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Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.

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Hereditary Ataxia Overview

, MD
Seattle VA Medical Center
Departments of Neurology and Medicine
University of Washington
Seattle, Washington

Initial Posting: ; Last Revision: April 3, 2014.


Disease characteristics. The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene in which causative mutations occur or chromosomal locus.

Diagnosis/testing. Inherited (genetic) forms of ataxia must be distinguished from the many acquired (non-genetic) causes of ataxia. The genetic forms of ataxia are diagnosed by family history, physical examination, neuroimaging, and molecular genetic testing.

Genetic counseling. The hereditary ataxias can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Genetic counseling and risk assessment depend on determination of the specific cause of an inherited ataxia in an individual.

Management. Treatment of manifestations: Canes, walkers, and wheelchairs for gait ataxia; use of special devices to assist with handwriting, buttoning, and use of eating utensils; speech therapy and/or computer-based devices for those with dysarthria and severe speech deficits.

Prevention of primary manifestations: No specific treatments exist for hereditary ataxia, except vitamin E therapy for ataxia with vitamin E deficiency (AVED).


Clinical Manifestations of Hereditary Ataxia

Clinical manifestations of hereditary ataxia are poor coordination of movement and a wide-based, uncoordinated, unsteady gait. Poor coordination of the limbs and of speech is often present.

Hereditary ataxia may result from one or any combination of the following:

  • Dysfunction of the cerebellum and its associated systems
  • Lesions in the spinal cord
  • Peripheral sensory loss

Establishing the Diagnosis of Hereditary Ataxia

Establishing the diagnosis of hereditary ataxia requires the following:

  • Detection on neurologic examination of typical clinical symptoms and signs including poorly coordinated gait and finger/hand movements, often associated with dysarthria and nystagmus
  • Exclusion of non-genetic causes of ataxia (see Differential Diagnosis)
  • Documenting the hereditary nature by finding a positive family history of ataxia, identifying an ataxia-causing mutation, or recognizing a clinical phenotype characteristic of a genetic form of ataxia
    Note: In some individuals with no family history of ataxia it may not be possible to establish a genetic cause if results of all available genetic tests are normal.

Differential Diagnosis of Hereditary Ataxia

Differential diagnosis of hereditary ataxia includes acquired, non-genetic causes of ataxia, such as alcoholism, vitamin deficiencies, multiple sclerosis, vascular disease, primary or metastatic tumors, or paraneoplastic diseases associated with occult carcinoma of the ovary, breast, or lung.

The possibility of an acquired cause of ataxia needs to be considered in each individual with ataxia because a specific treatment may be available [Shakkottai & Fogel 2013].

Prevalence of Hereditary Ataxia

Prevalence of the autosomal dominant cerebellar ataxias (ADCAs) is estimated to be approximately 1-5:100,000 population [van de Warrenburg et al 2002; Ruano et al 2014]. Worldwide, of the dominant ataxias, SCA3 is the most common, followed by SCA1, 2, 6, and 7 (see Figure 1). Prevalance of genetic childhood ataxia varies from 0.1 to 10 cases per 100,000 population [Musselman et al 2014]; autosomal recessive types account for approximately 3:100,000 [Ruano et al 2014] with Friedreich ataxia, ataxia-telangiectasia, and ataxia oculomotor apraxia being most common (see AOA1, AOA2).

Figure 1


Figure 1. Worldwide distribution of SCA subtypes [Schöls et al 1997, Moseley et al 1998, Saleem et al 2000, Storey et al 2000, Tang et al 2000, Maruyama et al 2002, Silveira et al 2002, van de Warrenburg et al 2002, Dryer et al 2003, Brusco et (more...)


The hereditary ataxias can be subdivided by mode of inheritance (i.e., autosomal dominant, autosomal recessive, X-linked, and mitochondrial) and gene in which causative mutations occur or chromosomal locus.

The hereditary ataxias have also been summarized by Duenas et al [2006], Finsterer [2009a], Paulson [2009] and Durr [2010].

Autosomal Dominant Cerebellar Ataxias (ADCA)

Synonyms for ADCA used prior to the identification of the molecular genetic basis of these disorders were Marie's ataxia, inherited olivopontocerebellar atrophy, cerebello-olivary atrophy, or the more generic term, spinocerebellar degeneration.

Molecular Genetics of ADCA

The autosomal dominant cerebellar ataxias for which specific genetic information is available are summarized in Table 1. Most are spinocerebellar ataxias (SCA), one is a complex form (DRPLA), two are episodic ataxias, and one is a spastic ataxia.

Table 1. Molecular Genetics of Autosomal Dominant Cerebellar Ataxias

Disease NameGene or Chromosomal Locus 1Type of MutationReference
SCA1 ATXN1 CAG repeatSubramony & Ashizawa [2011]
SCA2 ATXN2 CAG repeatPulst [2013]
SCA3 ATXN3 CAG repeatPaulson [2011]
SCA4 216q22.1---Flanigan et al [1996], Hellenbroich et al [2003], Edener et al [2011]
SCA5SPTBN2 Non-repeat mutationsIkeda et al [2006]
SCA6 CACNA1A CAG repeatGomez [2013]
SCA7 ATXN7 CAG repeatGarden [2012]
SCA8 ATXN8 / ATXN80S CAG·CTGIkeda et al [2007]
SCA9 3------
SCA10 ATXN10 ATTCT repeatMatsuura & Ashizawa [2012]
SCA11TTBK2 Non-repeat mutationsHoulden [2013]
SCA12 PPP2R2B CAG repeatMargolis et al [2011]
SCA13 KCNC3 Non-repeat mutationsPulst [2012]
SCA14 PRKCG Non-repeat mutationsChen et al [2013]
SCA15 ITPR1 Deletion of the 5' part of the geneStorey [2011]
SCA16SCA16 ---Miura et al [2006]
SCA17 TBP CAA/CAG repeat mutationToyoshima et al [2012]
SCA187q22-q32---Brkanac et al [2002], Brkanac et al [2009]
SCA19/22KCND3---Chung et al [2003], Verbeek et al [2002], Chung & Soong [2004], Schelhaas et al [2004], Duarri et al [2012], Lee et al [2012]
SCA20 11q12.2-11q12.3260-kb duplicationStorey [2012]
SCA21SCA21 ---Vuillaume et al [2002]
SCA23PDYN---Verbeek et al [2004], Bakalkin et al [2010]
SCA25SCA25 ---
SCA26EEF2MissenseYu et al [2005], Hekman et al [2012]
SCA27FGF14 ---van Swieten et al [2003]
SCA28AFG3L2---Cagnoli et al [2006], Mariotti et al [2008]
SCA293p26---Dudding et al [2004]
SCA304q34.3-q35.1---Storey et al [2009]
SCA31 2BEAN1Sato et al [2009], Sakai et al [2010], Edener et al [2011]
SCA34ELOVL4MissenseCadieux-Dion et al [2014]
SCA35TGM6MissenseWang et al [2010]
SCA36NOP56GGCCTG Intronic repeat expansionKobayashi et al [2011]
SCA371p32---Serrano-Munuera et al [2013]
DRPLA ATN1CAG repeatTsuji [2010]
EA1KCNA1 ---D’Adamo et al [2012]
EA2 4 CACNA1A Non-repeat mutationsSpacey [2011]
CACNB4 ---
EA3 5 1q42---Damji et al [1996], Jen et al [2007]
EA4 6 ------Steckley et al [2001], Jen et al [2007]
EA5CACNB4---Jen et al [2007]
EA6SLC1A3---Jen et al [2007]
SPAX1VAMP1Non-repeat mutationsMeijer et al [2002], Bourassa et al [2012]

See Spinocerebellar ataxia: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.

See Episodic ataxia: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.

1. Chromosomal locus is given only when the gene is unknown.

2. Japanese families linked to the 16q22 region have a single-nucleotide substitution (-16C>T) in the 5' UTR of PLEKHG4 and often share a common haplotype [Ishikawa et al 2005, Ohata et al 2006]. It is not yet certain whether the nucleotide substitution is itself pathogenic [Sakai et al 2010]. Edener et al [2011] provide evidence that SCA4 and SCA31 are caused by different mutations, possibly in different genes at the same locus (16q22).

3. Although SCA9 has been reserved, no clinical or genetic information regarding this type has been published.

4. EA2, SCA6, and one type of familial hemiplegic migraine all represent allelic mutations in CACNA1A.

5. A single family with EA3 (periodic vestibulocerebellar ataxia with defective smooth pursuit)

6. A single family with EA4 (episodic ataxia with vertigo and tinnitus)

Other autosomal dominant cerebellar ataxias (not included in Table 1)

  • Cerebellar ataxia, deafness, narcolepsy, and optic atrophy (linked to 6p21-p23 in one family) [Melberg et al 1999]
  • Ataxia, cerebellar atrophy, intellectual disability, and possible attention deficit/hyperactivity disorder (ADHD) (associated with a heterozygous mutation in SCN8A, encoding a sodium channel [Trudeau et al 2006]
  • Late-onset (40s-60s) cerebellar ataxia preceded by many years of spasmodic coughing. One individual had calcification of the dentate nuclei on MRI [Coutinho et al 2006].
  • SCA32 has been reported in an abstract, associated with male infertility and linked to 7q32-q33 [Jiang et al 2010].
  • SCA34, was linked to 6p12.3-q16.2 in an unpublished thesis, associated with a French Canadian family with erthrokeratodermia [Giroux & Barbeau 1972], and found to be associated with a missense mutation (Leu168Phe) in ELOVL4 [Cadieux-Dion et al 2014].

Molecular genetic testing

  • CAG trinucleotide expansion disorders. SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, SCA17, and DRPLA are caused by CAG trinucleotide repeat expansions within the coding sequences of their respective genes. (Because the CAG tract codes for glutamine, such disorders have also been called polyglutamine disorders.)

    Molecular genetic testing for CAG repeat length is a highly specific and highly sensitive diagnostic test. The sizes of the normal CAG repeat allele and of the disease-causing (full-penetrance) CAG repeat expansion vary among the disorders (see individual GeneReview for each disorder; links in Table 1).

    Two notes of caution in interpretation of CAG repeat length:
    • Some disorders are associated with alleles for which overlap exists between the upper range of normal and the lower range of abnormal CAG repeat size. Typically, such alleles are categorized as mutable normal or reduced penetrance.

      Mutable normal alleles (previously referred to as intermediate alleles) do not cause disease in the individual but can expand upon transmission to a reduced or full penetrance allele. Therefore, children of an individual with a mutable normal allele are at increased risk of inheriting a disease-causing allele.

      Reduced penetrance alleles may or may not cause disease; the probability of disease in persons with such alleles is typically unknown.

      Interpretation of test results in which the CAG repeat length is at the interface between the allele categories mutable normal/reduced penetrance or reduced penetrance/disease-causing can be difficult. In such cases, a consultation with the testing laboratory may be helpful to determine the precision of the CAG repeat length measurement.
    • In some instances SCA2, SCA7, SCA8, and SCA10 result from extremely large CAG expansion lengths that may only be detected with Southern blot analysis. For these disorders, a test result of apparent homozygosity (detection of a single allele size by PCR analysis) must be interpreted in the context of multiple factors including clinical findings, family history, and age of onset of symptoms to determine whether Southern blot analysis to test for the presence of a large CAG expansion mutation is appropriate.
  • Other. SCA8 has a CTG trinucleotide repeat expansion in ATXN8OS [Koob et al 1999]. Extremely large repeats (~800) in ATXN8OS may be associated with an absence of clinical symptoms [Ranum et al 1999]. The pathogenesis of the SCA8 phenotype is complex and also involves a (CAG)n repeat in a second overlapping gene, ATXN8.

    SCA10 has a large expansion of an ATTCT pentanucleotide repeat in ATXN10, with the abnormal expansion range being much larger than that seen in the CAG repeat disorders [Matsuura et al 2000].
  • Anticipation is observed in the autosomal dominant ataxias in which CAG trinucleotide repeats occur. Anticipation refers to earlier onset and increasing severity of disease in subsequent generations of a family. In the trinucleotide repeat diseases, anticipation results from expansion in the number of CAG repeats that occurs with transmission of the gene to subsequent generations. ATN1 (DRPLA) and ATXN7 (SCA7) have particularly unstable CAG repeats [La Spada 1997, Nance 1997]. In SCA7, anticipation may be so extreme that children with early-onset, severe disease die of disease complications long before the affected parent or grandparent is symptomatic.

    Anticipation is a significant issue in the genetic counseling of asymptomatic at-risk family members and in prenatal testing. Although general correlations exist between earlier age of onset and more severe disease with increasing number of CAG repeats, the age of onset, severity of disease, specific symptoms, and rate of disease progression are variable and cannot be accurately predicted by the family history or molecular genetic testing. While attention has been focused on the phenomena of anticipation and trinucleotide repeat expansion, it is important to note that the number of trinucleotide repeats can also remain stable or even contract on transmission to subsequent generations.

    In the CAG repeat disorders, expansion of the repeat is more likely to occur with paternal than with maternal transmission of the expanded allele. In contrast, in SCA8 the majority of expansions of the CTG repeat occur during maternal transmission [Koob et al 1999].

Clinical Features of ADCA

The age of onset and physical findings in the autosomal dominant ataxias overlap. Table 2 indicates a few more or less distinguishing clinical features for each type [Hammans 1996, Nance 1997, Schöls et al 1997, Klockgether et al 1998, Kerber et al 2005, Kraft et al 2005, Maschke et al 2005]. Often the autosomal dominant ataxias cannot be differentiated by clinical or neuroimaging studies; they are usually slowly progressive and often associated with cerebellar atrophy, as seen from brain imaging studies. Progressive adult-onset gait ataxia (often with hand dysmetria) and dysarthria associated with cerebellum atrophy on brain imaging are the most frequent clinical manifestations. In general SCA1 progresses faster and SCA6 has later onset [Ashizawa et al 2013] than other dominant ataxias. Neuropathologic freatures are detailed by Seidel et al [2012] and Rüb et al [2013].

The frequency of the occurrence of each disease within the autosomal dominant cerebellar ataxia (ADCA) population is noted in Table 2. Refer to Figure 1 for reported prevalence of ADCA subtypes worldwide.

Data are based on a comprehensive study in the US by Moseley et al [1998]. The prevalence of individual subtypes of ADCA may vary from region to region, frequently because of founder effects. For example, DRPLA and SCA3 are more common in Japan and in Portugal, respectively; SCA2 is common in Korea and SCA3 is much more common in Japan and Germany than in the United Kingdom [Leggo et al 1997, Schöls et al 1997, Watanabe et al 1998, Kim et al 2001, Silveira et al 2002]. SCA3 was originally described in Portuguese families from the Azores and called Machado-Joseph disease (MJD). DRPLA is rare in North America and common in Japan. A recent study found evidence of frequency variation between different regions in Japan [Matsumura et al 2003].

Table 2. Autosomal Dominant Cerebellar Ataxias: Clinical Features

Disease Name 1 Average Onset
(range in yrs)
Average Duration
(range in yrs)
Distinguishing Features 2 OtherReferences
SCA1 3rd - 4th decade
(<10 to >60)
15 yrs
Pyramidal signs, peripheral neuropathySubramony & Ashizawa [2011]
SCA2 3rd - 4th decade
(<10 to >60)
10 yrs
Slow saccadic eye movements, peripheral neuropathy, decreased DTRs, dementiaPulst [2013]
SCA3 4th decade (10-70)10 yrs
Pyramidal and extrapyramidal signs; lid retraction, nystagmus, decreased saccade velocity; amyotrophy fasciculations, sensory lossPaulson [2011]
SCA44th - 7th decade
DecadesSensory axonal neuropathy, deafnessMay be allelic with 16q22-linked SCAFlanigan et al [1996]
SCA53rd - 4th decade
>25 yrs Early onset, slow course1st reported in descendants of Abraham Lincoln Ranum et al [1994], Stevanin et al [1999], Burk et al [2004], Ikeda et al [2006]
SCA6 5th - 6th decade
>25 yrs Sometimes episodic ataxia, very slow progressionGomez [2013]
SCA7 3rd - 4th decade
(0.5 - 60)
20 yrs
(1-45; early onset correlates with shorter duration)
Visual loss with retinopathyGarden [2012]
SCA8 4th decade
Normal life spanSlowly progressive, sometimes brisk DTRs, decreased vibration sense; rarely, cognitive impairmentIkeda et al [2007]
SCA10 4th decade
9 yrs Occasional seizuresMost families are of Mexican backgroundMatsuura & Ashizawa [2012]
SCA11Age 30 yrs
Normal life spanMild, remain ambulatoryHoulden [2013]
SCA12 4th decade
Slowly progressive ataxia; action tremor in the 30s; hyperreflexia; subtle Parkinsonism possible; cognitive/psychiatric disorders incl dementiaMargolis et al [2011]
SCA13 Childhood or adulthoodUnknownMild intellectual disability, short staturePulst [2012]
SCA14 3rd - 4th decade
Early axial myoclonusChen et al [2013]
SCA15 4th decade
Decades Pure ataxia, very slow progressionStorey [2011]
SCA16Age 39 yrs
1-40 yrsHead tremorOne Japanese familyMiyoshi et al [2001], Miura et al [2006]
SCA17 4th decade
>8 yearsMental deterioration; occasional chorea, dystonia, myoclonus, epilepsyPurkinje cell loss, intranuclear inclusions with expanded polyglutamineToyoshima et al [2012]
DecadesAtaxia with early sensory/motor neuropathy, nystagmus, dysarthria, decreased tendon reflexes Muscle weakness, atrophy, fasiculations, Babinski responsesBrkanac et al [2002], Brkanac et al [2009]
SCA19/224th decade
DecadesSlowly progressive, rare cognitive impairment, myoclonus, hyper-reflexiaNine familiesSchelhaas et al [2001], Verbeek et al [2002], Chung et al [2003], Lee et al [2012]
SCA20 5th decade
DecadesEarly dysarthria, spasmodic dysphonia, hyperreflexia, bradykinesia Calcification of the dentate nucleusStorey [2012]
SCA21(6-30)DecadesMild cognitive impairmentDevos et al [2001]
SCA235th - 6th decade>10 yrsDysarthria, abnormal eye movements, reduced vibration and position senseOne Dutch family; neuropathology 3 Verbeek et al [2004]
SCA25 (1.5-39) Unknown Sensory neuropathy One French familyStevanin et al [2003]
SCA26 (26-60) Unknown Dysarthria, irregular visual pursuits One Norwegian-American family; MRI: cerebellar atrophy Yu et al [2005], Hekman et al [2012]
SCA27 Age 11 yrs
Decades Early-onset tremor; dyskinesia, cognitive deficits One Dutch familyvan Swieten et al [2003], Brusse et al [2006]
SCA28 Age 19.5 yrs
Decades Nystagmus, ophthalmoparesis, ptosis, increased tendon reflexes Two Italian familiesCagnoli et al [2006], Mariotti et al [2008], Edener et al [2010]
SCA29Early childhoodLifelongLearning deficitsDudding et al [2004]
SCA30(45-76)LifelongHyperreflexiaStorey et al [2009]
SCA315th-6th decadeLifelongNormal sensationNagaoka et al [2000]
SCA34Skin change (infancy); ataxia (adult)LifelongSkin changes disappear in adulthoodFrench Canadian familyCadieux-Dion et al [2014]
SCA3543.7 +/-2.9 (40-48) yrs15.9+/-8.8 (5-31) yrsHyperreflexia, Babinski responsesSpasmodic torticollisWang et al [2010]
SCA3652.8 +/- 4.3 yearsDecadesMuscle fasiculations, tongue atrophy, hyperreflexiaKobayashi et al [2011]
SCA37Adult onsetLife longAbnormal vertical eye movementsSerrano-Munuera et al [2013]
DRPLA 3rd - 4th decade
(8-20 or
Early onset correlates with shorter durationChorea, seizures, dementia, myoclonusOften confused with Huntington disease Tsuji [2010]
EA11st - 2nd decade
Attenuates after 20 yrs Myokymia; attacks lasting seconds to minutes; startle or exercise induced; no vertigoD’Adamo et al [2012]
EA2 (2-32)LifelongNystagmus; attacks lasting minutes to hours; posture change induced; vertigo; later, permanent ataxiaSpacey [2011]
SPAX1(10-20)Normal life spanInitial progressive leg spasticitySimilar to ARSACS

ADCA = autosomal dominant cerebellar ataxias

SCA = spinocerebellar ataxia

DRPLA = dentatorubral-pallidoluysian atrophy

SAX = spastic ataxia

EA = episodic ataxia

DTRs = deep tendon reflexes

SPAX1 = autosomal dominant spastic ataxia 1

1. SCA9 has not been assigned.

2. All have gait ataxia.

3. Purkinje cell loss, demyelination of the posterior and lateral columns of the spinal cord, and neuronal intranuclear inclusions in the substantia nigra

Autosomal Recessive Hereditary Ataxias

Autosomal recessive disorders that include ataxia have been reviewed (see review: Embirucu et al [2009]).

Table 3 and Table 4 summarize information for eleven typical autosomal recessive disorders in which ataxia is a prominent feature. The disorders are selected to indicate the range of genetic understanding that presently exists regarding recessive causes of ataxia. Other rare autosomal recessive hereditary ataxias are described briefly.

Molecular Genetics of Autosomal Recessive Hereditary Ataxias

Table 3. Examples of Autosomal Recessive Hereditary Ataxias: Molecular Genetics

1. IOSCA = infantile-onset spinocerebellar ataxia

Clinical Features of Autosomal Recessive Hereditary Ataxias

Table 4. Examples of Autosomal Recessive Hereditary Ataxias: Clinical Features

Disease NamePopulation FrequencyOnset (range in yrs)Duration in YearsDistinguishing Features
Friedreich ataxia (FRDA)1-2:50,0001st - 2nd decade
10-30Hyporeflexia, Babinski responses, sensory loss, cardiomyopathy
Ataxia-telangiectasia (A-T)1:40,000 to 1:100,0001st decade10-20Telangiectasia, immune deficiency, cancer, chromosomal instability, increased alpha-fetoprotein
Ataxia with vitamin E deficiency (AVED)RareAge 2-52 yrs, usually <20DecadesSimilar to FRDA, head titubation (28%)
Ataxia with oculomotor apraxia type 1 (AOA1)UnknownChildhoodDecadesOculomotor apraxia, choreoathetosis, mild intellectual disability, hypoalbuminemia
Ataxia with oculomotor apraxia type 2 (AOA2)UnknownAge 10-22 yrsDecadesCerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia
IOSCA 1 Rare
InfancyDecadesPeripheral neuropathy, athetosis, optic atrophy, deafness, ophthalmoplegia
Marinesco-Sjögren syndromeRareInfancyDecadesIntellectual disability, cataract, hypotonia, myopathy
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)RareChildhoodDecadesSpasticity, peripheral neuropathy, retinal striation
Refsum diseaseRare1st-6th decadeDecadesNeuropathy, deafness, ichthyosis, retinopathy
CoQ10 deficiencyRareChildhoodDecadesSeizures, cognitive decline, pyramidial signs, myopathy
Cerebrotendinous xanthomatosis (CTX)1:50,000Childhood to young adulthoodDecadesThick tendons, cognitive decline, dystonia, white matter disease, cataract

1. IOSCA = infantile-onset spinocerebellar ataxia

Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years typically associated with depressed tendon reflexes, dysarthria, Babinski responses, and loss of position and vibration senses [Lynch et al 2006]. About 25% of affected individuals have an "atypical" presentation with later onset (age >25 years), retained tendon reflexes, or unusually slow progression of disease. The vast majority of individuals have a GAA triplet-repeat expansion in FXN. Unlike the autosomal dominant cerebellar ataxias caused by CAG trinucleotide repeats, FRDA is not associated with anticipation [Durr et al 1996].

Ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, frequent infections, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, and an increased risk for malignancy, particularly leukemia and lymphoma. Testing that supports the diagnosis of individuals with A-T is identification of a 7;14 chromosome translocation on routine karyotype of peripheral blood; the presence of immunodeficiency; and in vitro radiosensitivity assay. Molecular genetic testing of ATM is available clinically.

Ataxia with vitamin E deficiency (AVED) generally manifests in late childhood or early teens with dysarthria, poor balance when walking (especially in the dark), and progressive clumsiness resulting from early loss of proprioception. Some individuals experience dystonia, psychotic episodes (paranoia), pigmentary retinopathy and/or intellectual decline. Most individuals become wheelchair bound as a result of ataxia and/or leg weakness between ages 11 and 50 years. Although phenotypically similar to FRDA, AVED is more likely to be associated with head titubation or dystonia and less likely to be associated with cardiomyopathy. It is important to consider the diagnosis of AVED (which can be made by measuring serum concentration of vitamin E) because it is treatable with vitamin E supplementation [Yokota et al 1997, Cavalier et al 1998].

An individual with both SCA8 and recessive ataxia with vitamin E deficiency (AVED) did not respond to vitamin E replacement as would be expected with AVED alone [Cellini et al 2002].

A different autosomal recessive ataxia occurring on Grand Cayman Island is caused by mutations in ATCAY, the gene encoding the protein CRAL-TRIO, which may also be involved in vitamin E metabolism [Bomar et al 2003].

Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly progressive cerebellar ataxia (mean onset age ~7 years), followed in a few years by oculomotor apraxia that progresses to external ophthalmoplegia. All affected individuals have a severe primary motor peripheral neuropathy leading to quadriplegia with loss of ambulation about seven to ten years after onset. Intellect remains normal in affected individuals of Portuguese ancestry but mental deterioration has been seen in affected individuals of Japanese ancestry. The diagnosis of AOA1 is based on clinical findings and confirmed by molecular genetic testing [Barbot et al 2001, Date et al 2001, Moreira et al 2001, Le Ber et al 2003, Onodera 2006].

Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between ages ten and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and elevated serum concentration of alpha-fetoprotein (AFP) [Moreira et al 2003, Asaka et al 2006]. The diagnosis of AOA2 is based on clinical and biochemical findings, family history, and exclusion of the diagnosis of ataxia-telangiectasia and AOA1; it is confirmed by molecular genetic testing.

Infantile-onset SCA (IOSCA) is a rare disorder reported from Finland with degeneration of the cerebellum, spinal cord, and brain stem and sensory axonal neuropathy [Nikali et al 2005].

Marinesco-Sjögren syndrome is a rare disorder in which ataxia is associated with intellectual disability, cataract, short stature, and hypotonia [Zimmer et al 1992, Anttonen et al 2005, Senderek et al 2005].

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is characterized by early-onset (age 12-18 months) difficulty in walking and gait unsteadiness. Ataxia, dysarthria, spasticity, extensor plantar reflexes, distal muscle wasting, a distal sensorimotor neuropathy predominantly in the legs, and horizontal gaze nystagmus constitute the major neurologic signs, which are most often progressive. Yellow streaks of hypermyelinated fibers radiate from the edges of the optic fundi in the retina of Quebec-born individuals with ARSACS [Bouchard et al 1998]; the retinal changes are uncommon in French, Tunisian, and Turkish individuals with ARSACS [Mrissa et al 2000, Pulst & Filla 2000]. Individuals with ARSACS become wheelchair bound at the average age of 41 years; cognitive skills are preserved long term and individuals are able to accomplish activities of daily living late into adulthood. Death commonly occurs in the sixth decade.

Refsum disease generally presents in childhood or young adulthood; in addition to ataxia there may be peripheral neuropathy, deafness, ichthyosis or retinitis pigmentosa [Wanders et al 2010].

PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract), a syndrome similar to Refsum disease, is caused by mutations in ABHD12 [Fiskerstrand 2010].

CoQ10 deficiency is often associated with seizures, cognitive decline, pyramidal track signs, and myopathy, but may also have prominent cerebellar ataxia [Musumeci et al 2001, Lamperti et al 2003, Montero et al 2007]. The symptoms may respond to coenzyme Q10 treatment.

Cerebrotendinous xanthomatosis (CTX) has characteristic thickening of tendons often associated with cognitive decline, dystonia, cataract, and white matter changes on brain MRI.

Other autosomal recessive cerebellar ataxias (not included in Table 3 and Table 4) for which mutations in a gene have been identified:

Other autosomal recessive cerebellar ataxias (not included in Table 3 and Table 4) for which no mutations in a gene have been identified to date:

  • Ataxia with intellectual disability, peripheral neuropathy, and marked cerebellar atrophy, reported in Japan [Tachi et al 2000]
  • Ataxia with posterior column degeneration of the spinal cord and retinitis pigmentosa [Higgins et al 1997]
  • Ataxia with hypogonadotrophic hypogonadism. A similar sibship has shown a deficiency of coenzyme Q10 [Gironi et al 2003].
  • Ataxia with intellectual disability, optic atrophy, and skin abnormalities in a consanguineous Lebanese family (linked to 15q24-q26) [Megarbane et al 2001, Delague et al 2002]
  • Ataxia with deafness and optic atrophy (linked to 6p21-p23) [Bomont et al 2000]
  • A single Slovenian family in which five of 14 siblings have ataxia with saccadic intrusions, sensory neuropathy, and myoclonus [Swartz et al 2002]
  • A large consanguineous Norwegian family with infantile-onset non-progressive ataxia (linked to 20q11-q13) [Tranebjaerg et al 2003]
  • Ataxia and developmental delay, frequently seen in older children with biotinidase deficiency
  • A Palestinian family with MR and cerebellar atrophy (linked to 22q11) [Baris et al 2005]
  • A Dutch family with childhood-onset ataxia with pyramidal signs, postural tremor, and posterior column sensory loss (linked to 11p15) [Breedveld et al 2004]

X-Linked Hereditary Ataxias

X-linked sideroblastic anemia and ataxia (XLSA/A) is characterized by early-onset ataxia, dysmetria, and dysdiadochokinesis. The ataxia is either non-progressive or slowly progressive. Upper motor neuron (UMN) signs (brisk deep tendon reflexes, unsustained ankle clonus, and equivocal or extensor plantar responses) are present in some males. Mild learning disability is seen. Anemia is mild without symptoms. Carrier females have a normal neurologic examination. Causative mutations are present in ABC7, encoding a protein involved with mitochondrial iron transport, suggesting a common pathogenesis with Friedreich ataxia [Allikmets et al 1999, Bekri et al 2000, Maguire et al 2001].

Adult-onset ataxia, especially in men, may be part of the fragile X-associated tremor/ataxia syndrome (FXTAS) [Berry-Kravis et al 2007, Leehey 2009] (see FMR1-Related Disorders).

Spastic Ataxia

The combination of spasticity with signs of cerebellar ataxia is relatively common and one or the other finding may predominate [de Bot et al 2012]. For example, ataxia and cerebellar atrophy both frequently occur in spastic paraplegia 7 (a form of hereditary spastic paraplegia), caused by mutations in SPG7 coding the protein paraplegin [van Gassen et al 2012].

Five disorders have specifically been designated spastic ataxia (SPAX). SPAX1 is autosomal dominant and the other four are autosomal recessive:

Ataxias with Mitochondrial Disorders

A progressive ataxia is sometimes associated with mitochondrial disorders including MERRF (myoclonic epilepsy with ragged red fibers), NARP (neuropathy, ataxia, and retinitis pigmentosa) [Finsterer 2009b], and Kearns-Sayre syndrome. Mitochondrial disorders are often associated with additional clinical manifestations, such as seizures, deafness, diabetes mellitus, cardiomyopathy, retinopathy, and short stature [Da Pozzo et al 2009].

Pfeffer et al [2012] report that missense mutations in MTATP6 can cause both childhood and adult-onset cerebellar ataxia sometimes associated with abnormal eye movements, dysarthria, weakness, axonal neuropathy and hyperreflexia.

Evaluation Strategy

Once a hereditary ataxia is considered in an individual, the following approach can be used to determine the specific cause to aid in discussions of prognosis and genetic counseling. Establishing the specific cause of hereditary ataxia for a given individual usually involves a medical history, physical examination, neurologic examination, neuroimaging, detailed family history, and molecular genetic testing.

Clinical findings. Because of extensive clinical overlap between all of the forms of hereditary ataxia, it is difficult in any given individual with ataxia and a family history consistent with autosomal dominant inheritance to establish a diagnosis without molecular genetic testing. Clinical findings may help distinguish between some of the autosomal recessive ataxias.

Family history. A three-generation family history with attention to other relatives with neurologic signs and symptoms should be obtained. Documentation of relevant findings in relatives can be accomplished either through direct examination of those individuals or review of their medical records including the results of molecular genetic testing, neuroimaging studies, and autopsy examinations.

Testing. Non-DNA-based clinical tests are available for two autosomal recessive hereditary ataxias: ataxia-telangiectasia (A-T) and ataxia with vitamin E deficiency (AVED).

Molecular genetic testing. Gasser et al [2010] and Shakkottai & Fogel [2013] have discussed a clinical diagnosis testing strategy using DNA analysis.

Testing strategy when the family history suggests autosomal dominant inheritance

  • An estimated 50%-60% of the dominant hereditary ataxias (see Table 1) can be identified with highly accurate and specific molecular genetic testing for SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17, and DRPLA; all have trinucleotide repeat expansions in the pertinent genes.
  • Because of the broad clinical overlap, most laboratories that test for the hereditary ataxias have a battery of tests including testing for SCA1, SCA2, SCA3, SCA6, SCA7, SCA10, SCA12, SCA14, and SCA17. Many laboratories offer them as two groups in stepwise fashion based on population frequency, testing first for the more common ataxias, SCA1, SCA2, SCA3, SCA6, and SCA7.
  • Testing is also available for some autosomal dominant forms of SCA that are not associated with repeat expansions, namely SCA5, SCA13, SCA14, SCA27, and 16q22-linked SCA.
  • Testing for the less common hereditary ataxias should be individualized and may depend on such factors as ethnic background (SCA10 in the Mexican population, with some exceptions [Fujigasaki et al 2002, Matsuura et al 2002]); seizures (SCA10); presence of tremor (SCA12); presence of cognitive deficit or chorea (SCA17); or uncomplicated ataxia with long duration (SCA6, SCA8, and SCA14).
  • If a strong clinical indication of a specific diagnosis exists based on the affected individual's examination (e.g., the presence of retinopathy, which suggests SCA7) or if family history is positive for a known type, testing can be performed for a single disease.
  • Of note, the interpretation of test results can be complex because (1) the exact range for the abnormal CAG repeat expansion has not been fully established for many of these disorders; (2) only a few families have been reported with SCA8 and thus penetrance and gender effects have not been completely resolved [Gupta & Jankovic 2009]. Thus, diagnosis and genetic counseling of individuals undergoing such testing require the support of an experienced laboratory, medical geneticist, and genetic counselor.
  • Of note, the cost of the battery of ataxia tests often is equivalent to that of an MRI. Positive results from the molecular genetic testing are more specific than MRI findings in the hereditary ataxias. Although the probability of a positive result from molecular genetic testing is low in an individual with ataxia who has no family history of ataxia, such testing is usually justified to establish a specific diagnosis for the individual's medical evaluation and for genetic counseling.

Testing strategy when the family history suggests autosomal recessive inheritance (i.e., affected sibs only, consanguineous parents). A family history in which only sibs are affected and/or when the parents are consanguineous suggests autosomal recessive inheritance. Because of their frequency and/or treatment potential, Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, and metabolic or lipid storage disorders including Refsum disease and chronic or adult-onset hexosaminidase A deficiency (GM2 gangliosidosis) should be considered.

Testing strategy for individuals who represent a simplex case (i.e., a single occurrence of a disorder in a family, sometimes incorrectly referred to as a "sporadic" case). If no acquired cause of the ataxia is identified, the probability is about 13% that the affected individual has SCA1, SCA2, SCA3, SCA6, SCA8, SCA17, or Friedreich ataxia [Abele et al 2002]. Other possibilities to consider are a de novo mutation in a different autosomal dominant ataxia, decreased penetrance, alternate paternity, or a single occurrence of an autosomal recessive or X-linked disorder in a family.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Hereditary ataxias may be inherited in an autosomal dominant manner, an autosomal recessive manner, or an X-linked recessive manner. If a proband has a specific syndrome associated with ataxia (e.g., ataxia as a finding in a mitochondrial disorder or FXTAS), counseling for that condition is indicated.

Risk to Family Members — Autosomal Dominant Hereditary Ataxia

Parents of a proband

Sibs of a proband

  • The risk to sibs depends on the genetic status of the proband's parents.
  • If one of the proband's parents has a mutant allele, the risk to the sibs of inheriting the mutant allele is 50%.

Offspring of a proband. Individuals with autosomal dominant ataxia have a 50% chance of transmitting the mutant allele to each child.

Risk to Family Members — Autosomal Recessive Hereditary Ataxia

Parents of a proband

  • The parents are obligate heterozygotes and therefore carry a single copy of a disease-causing mutation.
  • Heterozygotes are asymptomatic.

Sibs of a proband

  • At conception, each sib of a proband has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
  • Once an at-risk sib is known to be unaffected, the chance of his/her being a carrier is 2/3.

Offspring of a proband. All offspring are obligate carriers.

Risk to Family Members — X-Linked Hereditary Ataxia

Parents of a proband

  • The father of an affected male will not have the disease nor will he be a carrier of the mutation.
  • Women who have an affected son and another affected male relative are obligate heterozygotes.

Sibs of a proband

  • The risk to sibs depends on the carrier status of the mother.
  • If the mother of the proband has a disease-causing mutation, the chance of transmitting it in each pregnancy is 50%. Male sibs who inherit the mutation will be affected; female sibs who inherit the mutation will be carriers and will usually not be affected.
  • If the proband represents a simplex case (i.e., a single occurrence in a family) and if the disease-causing mutation cannot be detected in the leukocyte DNA of the mother, the risk to sibs is low but greater than that of the general population because of the possibility of maternal germline mosaicism.

Offspring of a proband. All the daughters of an affected male are carriers; none of his sons will be affected.

Related Genetic Counseling Issues

Testing of at-risk asymptomatic adult relatives of individuals with autosomal dominant cerebellar ataxia is possible after molecular genetic testing has identified the specific disorder and mutation in the family. Such testing should be performed in the context of formal genetic counseling. This testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in asymptomatic individuals. Testing of asymptomatic at-risk individuals with nonspecific or equivocal symptoms is predictive testing, not diagnostic testing. When testing at-risk individuals, an affected family member should be tested first to confirm that the mutation is identifiable by currently available techniques. Results of testing of 29 asymptomatic persons at risk for autosomal dominant ataxias have been reported [Goizet et al 2002].

Molecular genetic testing of asymptomatic individuals younger than age 18 years who are at risk for adult-onset disorders for which no treatment exists is not considered appropriate, primarily because it negates the autonomy of the child with no compelling benefit. Further, concern exists regarding the potential unhealthy adverse effects that such information may have on family dynamics, the risk of discrimination and stigmatization in the future, and the anxiety that such information may cause.

For more information, see also the National Society of Genetic Counselors position statement on genetic testing of minors for adult-onset conditions and the American Society of Human Genetics and American College of Medical Genetics points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, mutations, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing

Prenatal diagnosis for some of the hereditary ataxias is possible by analyzing fetal DNA (extracted from cells obtained by chorionic villus sampling [CVS] at ~10-12 weeks' gestation or amniocentesis usually performed at ~15-18 weeks' gestation) for disease-causing mutations. The disease-causing allele(s) of an affected family member must be identified before prenatal testing can be performed.

Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period or by ultrasound measurements.

Requests for prenatal testing for (typically) adult-onset diseases are not common. Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. Although most centers would consider decisions about prenatal testing to be the choice of the parents, discussion of these issues is appropriate.

Preimplantation genetic diagnosis (PGD) may be an option for families in which the disease-causing mutation(s) have been identified.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • International Network of Ataxia Friends (INTERNAF)
    Email: internaf-owner@yahoogroups.com
  • National Ataxia Foundation
    2600 Fernbrook Lane
    Suite 119
    Minneapolis MN 55447
    Phone: 763-553-0020
    Email: naf@ataxia.org
  • Spinocerebellar Ataxia: Making an Informed Choice about Genetic Testing
    Booklet providing information about Spinocerebellar Ataxia
  • euro-ATAXIA (European Federation of Hereditary Ataxias)
    Ataxia UK
    9 Winchester House
    Kennington Park
    London SW9 6EJ
    United Kingdom
    Phone: +44 (0) 207 582 1444
    Email: marco.meinders@euro-ataxia.eu
  • NCBI Genes and Disease


Treatment of Manifestations

Management of ataxias is usually directed at providing assistance for coordination problems through established methods of rehabilitation medicine and occupational and physical therapy.

  • Canes, walkers, and wheelchairs are useful for gait ataxia.
  • Special devices are available to assist with handwriting, buttoning, and use of eating utensils.
  • Speech therapy may benefit persons with dysarthria. Computer devices are available to assist persons with severe speech deficits.

Prevention of Primary Manifestations

With the exception of vitamin E therapy for AVED, no specific treatments exist for hereditary ataxia.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Underwood & Rubinsztein [2008] review potential strategies for treating ataxias associated with trinucleotide repeat expansions.

Search ClinicalTrials.gov for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.


Medical Genetic Searches: A specialized PubMed search designed for clinicians that is located on the PubMed Clinical Queries page Image PubMed.jpg

Published Guidelines/Consensus Statements

  1. American Society of Human Genetics and American College of Medical Genetics. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Available online. 1995. Accessed 4-1-14. [PMC free article: PMC1801355] [PubMed: 7485175]
  2. National Society of Genetic Counselors. Position statement on genetic testing of minors for adult-onset disorders. Available online. 2012. Accessed 4-1-14.

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Suggested Reading

  1. Rottnek M, Riggio S, Byne W, Sano M, Margolis RL, Walker RH. Schizophrenia in a patient with spinocerebellar ataxia 2: coincidence of two disorders or a neurodegenerative disease presenting with psychosis? Am J Psychiatry. 2008;165:964–7. [PubMed: 18676601]

Chapter Notes

Revision History

  • 3 April 2014 (tb) Revision: to information on KIAA0226 [Assoum et al 2013]
  • 20 March 2014 (tb) Revision: SCA34; SPTBN2 associated with autosomal recessive cerebellar ataxia; update in prevalence information
  • 27 February 2014 (tb) Revision: addition of CLCN2, WWOX, and links to OMIM Phenotypic Series
  • 13 February 2014 (tb) Revision: review of spastic ataxia
  • 23 January 2014 (tb) Revision: edits to prevalence, clinical features of ADCA, AR single cases; added SCA37 to Tables 1&2; added SCA32 and SCA34 to Table 1.
  • 7 November 2013 (tb) Revision: autosomal recessive SCA with eye movement abnormalities (most notably tonic upgaze) caused by mutations in GRID2
  • 17 January 2013 (tb) Revision: mutation in KCND3 found to cause SCA19 and SCA22 (SCA19/22)
  • 3 January 2013 (tb) Revision: clinical testing available for SCA35
  • 1 November 2012 (tb) Revision: mutations in EEF2 identified as causative for SCA26
  • 11 October 2012 (tb) Revision: mutations in VAMP1 identified as causative for SPAX1; mutations in GRM1 identified as causative for ARCA
  • 13 September 2012 (tb) Revision: addition of Emre Onat et al [2012]
  • 31 May 2012 (tb) Revision: to include Pfeffer et al 2012 re: ataxia associated with missense mutations in MTATP6; SCA18 assigned by OMIM to ataxia phenotype described by Brkanac et al 2002 and 2009.
  • 26 April 2012 (tb) Revision: autosomal recessive SCA caused by mutation in ANO10 added
  • 16 February 2012 (tb) Revision: SCA35 added
  • 26 January 2012 (tb) Revision: updated information on SCA with axonal neuropathy; SCAR9 added
  • 15 September 2011 (tb) Revision: additional rare form of autosomal recessive ataxia
  • 21 July 2011 (tb) Revision: addition of SCA36
  • 17 February 2011 (me) Comprehensive update posted live
  • 6 January 2009 (cd) Revision: 260-kb duplication of 11q12.2-11q12.3 identified as probable cause of SCA20
  • 25 September 2008 (tb) Revision: heterozygous mutations in AFG3L2 identified as the cause of SCA28
  • 27 February 2008 (tb) Revision: deletion of part of ITPR1 identified as cause of SCA15
  • 18 December 2007 (tb) Revision: mutations in TTBK2 associated with SCA11
  • 27 June 2007 (me) Comprehensive update posted to live Web site
  • 27 October 2006 (tb) Revision: SCA16 reassigned to 3p26.2-pter
  • 31 August 2006 (tb) Revision: clinical testing available for infantile-onset spinocerebellar ataxia (IOSCA)
  • 4 August 2006 (tb) Revision: clinical testing available for SCA5, SCA13, SCA27, and 16q22-linked SCA
  • 27 April 2006 (tb) Revision: mutations in KCNC3 cause SCA13; additions to Causes- Autosomal Dominant Cerebellar Ataxias, References
  • 1 February 2006 (tb) Revision: mutations in SPTBN2 cause SCA5
  • 19 December 2005 (tb) Revision: Marinesco-Sjögren caused by mutations in SIL1
  • 8 November 2005 (tb) Revision: SCA28
  • 17 October 2005 (tb) Revision: SCA27
  • 14 September 2005 (tb) Revision: author changes
  • 12 July 2005 (tb) Revision: SCA4 gene and protein identified
  • 4 April 2005 (tb) Revision: SCA26 added
  • 8 February 2005 (me) Comprehensive update posted to live Web site
  • 23 November 2004 (tb) Revision: author changes
  • 14 October 2004 (tb/cd) Revision
  • 30 June 2004 (tb) Revision: SCA20 added
  • 11 June 2004 (tb) Revision: SCA12 gene identified
  • 27 May 2004 (ca) Revision: addition of SCA world map (Figure 1)
  • 23 January 2004 (tb) Revision: SCA19
  • 30 December 2003 (tb) Revision: change in test availability
  • 2 October 2003 (tb) Revision: X-linked sideroblastic anemia gene identified
  • 17 July 2003 (tb) Revision: SCA22
  • 20 May 2003 (tb) Revision
  • 27 February 2003 (me) Comprehensive update posted to live Web site
  • 9 January 2002 (tb) Revision: SCA18
  • 8 November 2001 (tb) Revision: SCA15, SCA18
  • 14 August 2001 (tb) Revision: SCA17
  • 25 July 2001 (tb) Revision: SCA16
  • 11 April 2001 (tb) Revision: SCA12
  • 8 December 2000 (tb) Revision: SCA10
  • 15 November 2000 (tb) Revision: AOA
  • 8 November 2000 (tb) Revision: SCA10
  • 25 September 2000 (tb) Revision: SCA8
  • 25 August 2000 (tb) Revision: SCA14
  • 7 August 2000 (tb) Revision: Hereditary Ataxias/Clinical Features & References
  • 14 June 2000 (tb) Revision
  • 22 May 2000 (tb) Revision
  • 14 January 2000 (tb) Revision
  • 25 October 1999 (tb) Revision
  • 31 August 1999 (tb) Revision
  • 11 March 1999 (tb) Revision: SCA8
  • 5 March 1999 (tb) Revision: SCA10
  • 28 October 1998 (me) Overview posted to live Web site
  • 23 June 1998 (tb) Original submission
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