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Spinocerebellar Ataxia Type 10

Synonym: SCA10

, MD and , MD.

Author Information

Initial Posting: ; Last Update: September 20, 2012.


Clinical characteristics.

SCA10 is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning dysarthria, and dysphagia. The disease is exclusively found in Latin American populations, particularly those with Amerindian admixture. Abnormal tracking eye movements are common. Recurrent seizures after the onset of gait ataxia have been reported with variable frequencies among different families. Some individuals have cognitive dysfunction, behavioral disturbances, mood disorders, mild pyramidal signs, and peripheral neuropathy. Onset ranges from age 12 to 48 years.


Diagnosis of SCA10 is based on clinical findings and confirmed by molecular genetic testing to detect an abnormal ATTCT pentanucleotide repeat expansion in ATXN10, the only gene in which mutation is known to cause the disorder. Affected individuals have expanded alleles with the number of repeats up to 4,500 ATTCT pentanucleotide repeats, although intermediate alleles (280 to 850 repeats) may show reduced penetrance. Molecular genetic testing detects 100% of affected individuals.


Treatment of manifestations: Treatment of SCA10 is primarily focused on control of seizures, as uncontrolled seizures may lead to potentially fatal status epilepticus. Conventional anticonvulsants such as phenytoin, carbamazepine, and valproic acid achieve reasonable control, although occasional breakthrough seizures may occur. Treatment for dysphagia may include percutaneous placement of a gastric tube for both prevention of aspiration and maintenance of nutritional intake. Additional treatment measures may include: weight control to avoid obesity; exercise and physical therapy; canes/walkers/mobilized chairs; standard home modifications; and speech/communication assistive devices.

Agents/circumstances to avoid: Alcohol and drugs that are known to adversely affect cerebellar functions; falls which may compromise motor function; activities that are potentially dangerous to individuals with ataxia or epilepsy.

Genetic counseling.

SCA10 is inherited in an autosomal dominant manner. As part of the genetic counseling and testing of at-risk asymptomatic family members, it is necessary to confirm the diagnosis in an affected person using molecular genetic testing of ATXN10 by assessing the size of the ATTCT pentanucleotide repeat. Offspring of an affected individual have a 50% chance of inheriting the repeat expansion. Anticipation has been observed in some families with paternal (but not maternal) transmission of the pentanucleotide repeat expansion. Prenatal testing by molecular genetic testing is possible for fetuses at 50% risk; however, requests for prenatal testing of typically adult-onset diseases are not common. The risk of developing the SCA10 phenotype in individuals with expanded alleles in the intermediate range (280-850) is uncertain because of the apparently reduced penetrance.


Clinical Diagnosis

The major findings of SCA10 include the following:

  • Slowly progressive cerebellar ataxia starting as poor balance and unsteady gait
  • Scanning dysarthria, dysphagia, and upper-limb ataxia following the gait ataxia
  • Family history consistent with autosomal dominant inheritance, often with Mexican American, Mexican, or Brazilian ethnicity [Matsuura et al 2002, Matsuura et al 2006].
  • Generalized motor seizures and/or complex partial seizures, frequently found in individuals of Mexican descent [Rasmussen et al 2001, Grewal et al 2002]

Other suggestive findings:

  • MRI. Progressive pan cerebellar atrophy with preservation of the cerebrum and brain stem
  • EEG. Evidence of cortical dysfunction with or without focal epileptiform discharges on interictal electroencephalography in some affected individuals
  • Neurophysiology. Polyneuropathy

Molecular Genetic Testing

Gene. ATXN10 is the only gene in which mutation is known to cause spinocerebellar ataxia type 10. An ATTCT pentanucleotide repeat expansion is associated with SCA10.

Allele sizes

Clinical testing

Table 1.

Summary of Molecular Genetic Testing Used in SCA10

Gene 1Test MethodVariants Detected 2Variant Detection Frequency by Test Method 3
ATXN10Targeted analysis for pathogenic variants & Southern blot analysis 4ATTCT pentanucleotide repeat expansion in intron 9100%

See Molecular Genetics for information on allelic variants.


The ability of the test method used to detect a variant that is present in the indicated gene


Southern blot analysis of both genomic DNA and amplicons from ATTCT-repeat primed PCR may be useful (see Testing Strategy).

Testing Strategy

To confirm/establish the diagnosis in a proband. The diagnosis of SCA10 should be considered in symptomatic or at-risk members of families in which the molecular diagnosis of SCA10 has been established.

The diagnosis may also be considered in individuals with cerebellar ataxia, especially those from a family with autosomal dominant cerebellar ataxia with a Latin American ethnicity and Amerindian admixture. To date most (if not all) individuals with SCA10 have shown this ethnic/racial background [Ashizawa 2012].

In individuals with sporadic cerebellar ataxia, SCA10 molecular testing gives a low yield. However, the testing may be considered if cerebellar ataxia is accompanied by epilepsy, especially when other extracerebellar manifestations are absent or mild.

Clinical diagnosis must be confirmed by the presence of an ATTCT repeat expansion.

Targeted analysis for pathogenic variants and Southern blot analysis may be performed sequentially or concurrently.

  • Analysis by PCR detects normal alleles. The presence of heterozygous ATXN10 alleles excludes the diagnosis of SCA10.
  • If PCR analysis shows only one allele, an alternate PCR test – the ATTCT-repeat-primed PCR [Matsuura & Ashizawa 2002] – can detect presence or absence of large numbers of repeats of reduced-penetrance or full-penetrance ATXN10 alleles, but it cannot determine the size of the repeat tract. The clear absence of large numbers of repeats excludes the diagnosis of SCA10.
  • Southern blot analysis of genomic DNA is necessary to determine the size of expanded alleles and to differentiate reduced-penetrance from full-penetrance alleles [Matsuura & Ashizawa 2002, Cagnoli et al 2004]. Long-range PCR may be a potentially useful clinical test in the future to distinguish between these two categories of alleles [Matsuura et al 2006, Kurosaki et al 2008].

Predictive testing for at-risk asymptomatic adult family members requires prior identification of the pathogenic variant in the family.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the pathogenic variant in the family.

Clinical Characteristics

Clinical Description

The clinical findings of SCA10 are relatively homogeneous. Ataxia causes progressive disability, and seizures may become life threatening if status epilepticus emerges. Reported age of onset ranges from 12 to 48 years [Matsuura et al 1999, Zu et al 1999, Rasmussen et al 2001, Teive et al 2004].

Ataxia. The central feature of the phenotype is slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait.

The gait ataxia gradually worsens, leading to an increasing number of falls and necessitating use of a cane, walker, and eventually wheelchair. In the advanced stage, the affected individual is unable to stand or sit without support.

Scanning dysarthria, a type of slurred speech typically seen in cerebellar ataxia, appears within a few years after the onset of gait ataxia. Scanning speech is the result of impaired coordination of the movements of the vocal cords, tongue, palate, cheeks, and lips. Impaired coordination of the diaphragm and other respiratory muscles contributes to the speech impairment.

Poor coordination of tongue, throat, and mouth muscles causes dysphagia in later stages of the disease, often leading to life-threatening aspiration pneumonia.

Upper-limb coordination begins deteriorating within a few years after the onset of gait ataxia. Handwriting and other fine motor tasks, such as buttoning, are the first to be impaired, followed by increasing difficulties in daily activities such as feeding, dressing, and personal hygiene.

Most individuals develop abnormal tracking eye movements: fragmented ocular pursuit, ocular dysmetria, and occasionally ocular flutter. Impaired ocular movements are attributable to cerebellar dysfunction. Some individuals with relatively severe ataxia show coarse gaze-induced nystagmus. Saccade velocity is normal.

Ataxia may be induced by small amounts of alcohol [Teive et al 2011c] or during pregnancy and puerperium [Teive et al 2011a].

Seizures. In most individuals, seizures are noted after the onset of gait ataxia.

Recurrent seizures have been reported in 20%-100% of affected individuals [Matsuura et al 1999, Zu et al 1999, Rasmussen et al 2001]. Generalized motor seizures are most common, but complex partial seizures occur. An attack of complex partial seizures may occasionally be followed by a generalized motor seizure, suggesting secondary generalization of focal seizure activity. Seizure characteristics do not appear to change with age. Family-dependent factors may alter the seizure phenotype and frequency [Grewal et al 2002].

Without treatment, generalized motor seizures may occur daily and complex partial seizures may occur up to several times a day. Poorly treated seizures may result in life-threatening status epilepticus and/or death [Grewal et al 2002].

Seizures were found to occur in three of 80 Brazilians (3.75%) with SCA10; this in contrast to 40 Mexicans studied, in whom 24 (60%) were reported to have seizures [Teive et al 2004, Alonso et al 2006, Teive et al 2010].

Other. While overt progressive dementia is not observed, some individuals with SCA10 exhibit mild cognitive dysfunctions (IQ ~70) as well as mood disorders.

Mild pyramidal signs (either hyperreflexia, Babinski sign, or both), behavioral disturbances (including psychosis), dystonia, and peripheral neuropathy have been seen [Rasmussen et al 2001, Gatto et al 2007, Wexler & Fogel 2011].

Extraneural abnormalities including hepatic failure, anemia, and/or thrombocytopenia have been recorded in one family [Rasmussen et al 2001].

Low IQ, behavioral disturbances, and extraneural abnormalities have not been found in Brazilians with SCA10, although mild or equivocal pyramidal tract signs and rare sensory polyneuropathy were noted [Teive et al 2004, Alonso et al 2006].

Genotype-Phenotype Correlations

A comparison of clinical data and genotypes in individuals with SCA10 revealed an inverse correlation between expansion size and age of onset (p = 0.018) [Matsuura et al 2000]. The number of repeats ranged from 800 to 4500 and age of onset from 11 to 48 years. The correlation coefficient (r2) was 0.34, suggesting that the ATTCT expansion size can explain only about one third of the variation in age of onset and implying the existence of other determinants of age of onset. A later study of Brazilians with SCA10 showed a similar inverse correlation with r2=0.532 and p<0.01 [Teive et al 2004].

Though not as yet assessed quantitatively, the severity of the disease in individuals with SCA10 does not appear to correlate with expansion size, suggesting the influence of family-dependent factors on disease severity.

No correlation between expanded allele size and seizure phenotype has appeared [Teive et al 2004].

Longitudinal clinical data are needed to examine whether repeat size correlates with disease progression.


Penetrance is usually complete. However, apparent reduced penetrance has been reported [Alonso et al 2006, Matsuura et al 2006, Raskin et al 2007].


Anticipation is usually associated with progressively larger ATTCT repeat expansions in successive generations. The expanded repeat alleles are mostly unstable with paternal transmission but remarkably stable with maternal transmission [Grewal et al 2002]. However, some paternal transmissions have shown intergenerational contraction of the expanded repeat allele, in spite of the clinically observed anticipation [Matsuura et al 2004].

Anticipation was first noted in one large family with SCA10 [Zu et al 1999]; less marked anticipation was observed in another, larger family [Matsuura et al 1999]. Severe early-childhood onset has been reported and juvenile onset has also been observed [Zu et al 1999, Rasmussen et al 2001, Matsuura et al 2006]. In small families, anticipation may be variable and difficult to evaluate [Rasmussen et al 2001]. Anticipation has been suggested in Brazilian families with SCA10; further studies are needed to confirm this observation [Teive et al 2004].

Family-dependent factors may alter the pattern of intergenerational repeat changes [Grewal et al 2002].


The exact prevalence of SCA10 is unknown.

Initially, SCA10 was reported primarily in individuals with ataxia of Mexican ancestry [Matsuura et al 1999, Zu et al 1999, Rasmussen et al 2001]. Subsequently, in a cohort of families from Mexico who had inherited ataxia, SCA10 was determined to be the second most common inherited ataxia, after SCA2 [Rasmussen et al 2000]. More recently, ATXN10 expansions have been found in multiple Brazilian families [Teive et al 2004, Alonso et al 2006, Raskin et al 2007] and an Argentinean family [Gatto et al 2007]. In Brazil SCA10 is the second most common SCA after SCA3/MJD [Teive et al 2011b]. Taken together, the data suggest that the ATXN10 pathogenic variant may have arisen in the Native American population. Haplotype analysis also supports this [Almeida et al 2009].

To date, ATXN10 pathogenic variants have not been found in certain white populations (including American, French, Italian, Spanish, and Portuguese) or in certain Asian populations (Japanese, Chinese, and Indian) with ataxia in whom other known SCAs have been excluded [Fujigasaki et al 2002, Matsuura et al 2002, Sasaki et al 2003, Brusco et al 2004, Jiang et al 2005, Seixas et al 2005, Wang et al 2010, Vale et al 2010].

Differential Diagnosis

Significant overlap exists in the clinical presentation of the SCAs (see Hereditary Ataxia Overview). All are characterized by ataxia, and some by other neurologic signs. Clinical presentation may vary even among affected members of the same family. SCA type cannot generally be determined by clinical or neuroimaging studies of single individuals.

Although the combination of "pure" cerebellar ataxia (lacking other motor or cranial nerve involvement) and seizures is typical for SCA10 and has seldom been seen in other autosomal dominant cerebellar ataxias, it is possible that in some families, SCA10 could be a pure cerebellar ataxia without seizures.

Seizures occur in some individuals with DRPLA and SCA17 [Nakamura et al 2001], but individuals affected with these diseases also exhibit other conspicuous neurologic signs (such as extrapyramidal signs) not seen in SCA10.

Seizures may accompany relatively "pure" cerebellar ataxia in some individuals with SCA14, which is caused by single-nucleotide variants in the protein kinase C gamma gene, PRKCG [Alonso et al 2005].

SCA13, caused by pathogenic variants in KCNC3, may also present with “pure” cerebellar ataxia with seizures, mimicking SCA10. However, the ethnic and geographic populations affected by SCA13 (Filipino and French) and SCA14 (Europeans and Japanese) have been distinct from those of SCA10 (American continents/Amerindians).

In individuals with SCA10, pyramidal signs are subtle and not as robust as those observed in SCA1.

Individuals with SCA10 do not show the slow saccadic eye movements often found in people with SCA2.

Unlike individuals with SCA3, those with SCA10 exhibit few extrapyramidal signs and little involvement of lower motor neurons.

Individuals with SCA10 have never shown retinopathy with macular degeneration, which is a hallmark of SCA7.

It should also be noted that axial myoclonus, characteristic of SCA14 [Yamashita et al 2000], and head tremor, frequently found in SCA12 [Holmes et al 1999, O'Hearn et al 2001] and SCA16 [Miyoshi et al 2001], are not observed in SCA10.

Nerve conduction velocity studies indicate the presence of polyneuropathy in some individuals with SCA10; however, unlike those with SCA4, they have few signs or symptoms [Flanigan et al 1996].

Friedreich ataxia, characterized by autosomal recessive inheritance and sensorispinal ataxia, is easily distinguishable from SCA10 on the basis of clinical findings.

Unlike SCA10, in which all reported cases showed onset before age 50 years, fragile X-associated tremor/ataxia syndrome develops after age 50 years [Hagerman & Hagerman 2002]. However, some individuals with ATXN10 expanded alleles with reduced penetrance may develop ataxia at later ages [Alonso et al 2006, Matsuura et al 2006].

Because neurocysticercosis is one of the most common causes of seizures in Mexican Americans, it needs to be considered in individuals who do not have a strong family history of seizures. The MRI and CT findings of neurocysticercosis consist of either solid or cystic lesions associated with calcification and surrounding edema.


Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with spinocerebellar ataxia type 10 (SCA10), the following evaluations are recommended:

  • MRI. The extent of cerebellar atrophy on serial MRI studies may be useful for documenting the progression of the disease.
  • EEG. EEG is of particular importance, as many individuals with SCA10 develop epilepsy and epilepsy-related deaths have been recognized [Grewal et al 2002].
  • Nerve conduction tests. Nerve conduction studies are needed only when affected individuals have clinical evidence of polyneuropathy.
  • Neuropsychological tests. Formal neuropsychological tests are appropriate for individuals with problems in learning and social adaptation.
  • Speech pathology evaluation may be needed if dysarthria is atypical or severe enough to cause communication problems. For individuals with frequent choking or severe dysphagia, speech pathology evaluation may be important in assessing aspiration risks.
  • Clinical genetics consultation

Treatment of Manifestations

Control of seizures is the most important management issue, as uncontrolled seizures may lead to potentially fatal status epilepticus. Conventional anticonvulsants such as phenytoin, carbamazepine, and valproic acid achieve reasonable control, although occasional breakthrough seizures may occur.

When dysphagia becomes troublesome, video esophagrams can identify the consistency of food least likely to trigger aspiration. Severe dysphagia may require percutaneous placement of a gastric tube for prevention of aspiration and maintenance of nutritional intake.

Weight control is important because obesity can exacerbate difficulties with ambulation and mobility.

Although not specifically studied in SCA10, intensive coordinative training has shown sustainable improvements in motor performance in individuals with degenerative ataxias [Ilg et al 2009, Ilg et al 2010].

Canes and walkers help prevent falling. Modification of the home with grab bars, raised toilet seats, and ramps to accommodate motorized chairs may be necessary.

Speech therapy and communication devices such as writing pads and computer-based devices may benefit those with dysarthria.

Weighted eating utensils and dressing hooks help maintain a sense of independence.

Prevention of Primary Manifestations

No therapy is known to delay or halt the progression of the disease.

No drugs have been proven to provide symptomatic relief of ataxia; however, minor tranquilizers may show some benefits in motor coordination in those persons who experience anxiety.

Prevention of Secondary Complications

No dietary factor that curtails symptoms has been documented; however, vitamin supplements are recommended, particularly for those with poor nutritional status.

Falls and aspiration are two major threats to individuals with ataxia, including those with SCA10. Walking aids and proactive plans for feeding strategies are useful.


Follow-up outpatient clinical evaluation every four to six months is indicated to identify early signs of potential complications and to adjust anticonvulsant treatments.

Agents/Circumstances to Avoid

Alcohol and drugs known to adversely affect cerebellar functions should be avoided.

Falls should be avoided because resulting injuries may greatly compromise motor function and the ability to perform activities of daily living.

Any activities that are potentially dangerous to individuals with ataxia or epilepsy should be avoided, depending on the severity of the manifestations.

Evaluation of Relatives at Risk

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

Pregnancy Management

At-risk individuals should be aware of the possibility of inducing ataxia during pregnancy or puerperium [Teive et al 2011a].

Epilepsy should be managed during pregnancy according to the American Academy of Neurology Practice Parameter Update: Management issues for women with epilepsy (an evidence-based review).

Therapies Under Investigation

Search 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.


Although taltirelin hydrate is widely used for symptomatic treatment of ataxia in Japan, it has never been used for individuals with SCA10.

Tremor-controlling drugs, such as beta blockers and primidone, are ineffective for cerebellar tremors.

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

SCA10 is inherited in an autosomal dominant manner.

Risk to Family Members

Parents of a proband

  • Most individuals diagnosed with SCA10 have an affected parent.
  • De novo expansion of the ATXN10 repeat has not been identified.
  • Neurologic evaluation and molecular genetic testing of the parents in index cases is appropriate.

Note: Although most individuals diagnosed with SCA10 have an affected parent, the family history may appear to be negative because of failure to recognize the disorder in family members, early death of the parent before the onset of symptoms, or late onset of the disease in the transmitting parent.

Sibs of a proband. The risk to the sibs of a proband depends on the genetic status of the proband's parents.

Offspring of a proband

  • Each child of an individual with SCA10 has a 50% chance of inheriting the pathogenic variant.
  • Further expansion in ATXN10 may occur when the expanded ATXN10 allele is transmitted to offspring, possibly resulting in anticipation (an earlier age of onset and more severe disease manifestations in offspring). The age of onset, severity, specific symptoms, and progression of the disease are variable and cannot be predicted by the family history or molecular genetic testing.

Other family members. The risk to other family members depends on the genetic status of the proband's parents: if a parent is affected, his or her family members are at risk.

Specific risk issues. All individuals with SCA10 identified to date are from families originally from Latin American countries, mostly with documented Amerindian admixture.

Related Genetic Counseling Issues

Considerations in families with an apparent de novo pathogenic variant. When the parents of a proband with SCA10 are unaffected and do not have a full-penetrance allele, possible non-medical explanations including alternate paternity or maternity (e.g., with assisted reproduction) or undisclosed adoption could also be explored.

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.

Testing of at-risk asymptomatic individuals. Testing of at-risk adults for SCA10 is possible using the techniques described in Molecular Genetic Testing. Such testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in asymptomatic individuals. When testing at-risk individuals for SCA10, an affected family member should be tested first to confirm the molecular diagnosis of SCA10.

Testing for the pathogenic variant in the absence of definite symptoms of the disease is predictive testing. At-risk asymptomatic adult family members may seek testing in order to make personal decisions regarding reproduction, financial matters, and career planning. Others may have different motivations, including simply "the need to know." Testing of asymptomatic at-risk adult family members usually involves pre-test interviews in which the motives for requesting the test, the individual's knowledge of SCA10, the possible impact of positive and negative test results, and neurologic status are assessed. Those seeking testing should be counseled about possible problems that they may encounter with regard to health, life, and disability insurance coverage, employment and educational discrimination, and changes in social and family interaction. Other issues to consider are implications for the at-risk status of other family members. Informed consent should be procured and records kept confidential. Individuals with a positive test result need arrangements for long-term follow up and evaluations.

Testing of at-risk asymptomatic individuals during childhood. Consensus holds that individuals younger than age 18 years who are at risk for adult-onset disorders should not have testing in the absence of symptoms unless effective treatments are available. The principal arguments against testing asymptomatic individuals during childhood are that it removes their choice to know or not know this information, it raises the possibility of stigmatization within the family and in other social settings, and it could have serious educational and career implications. Thus, predictive genetic testing of asymptomatic individuals younger than age 18 years who are at risk for SCA10 is generally unavailable. Individuals younger than age 18 years who are symptomatic usually benefit from having a specific diagnosis established. See also the National Society of Genetic Counselors position statement on genetic testing of minors for adult-onset conditions and the American Academy of Pediatrics and American College of Medical Genetics and Genomics policy statement: ethical and policy issues in genetic testing and screening of children.

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, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing and Preimplantation Genetic Diagnosis

Once the ATXN10 pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at 50% risk for SCA10 and preimplantation genetic diagnosis are possible.

Requests for prenatal diagnosis of adult-onset diseases such as SCA10 are not common. Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, as it is generally being considered for the purpose of pregnancy termination or presymptomatic testing of a child. Although most centers would consider decisions about prenatal testing to be the choice of the parents, discussion of these issues is appropriate.


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.

  • NCBI Genes and Disease
  • Spinocerebellar Ataxia: Making an Informed Choice about Genetic Testing
    Booklet providing information about Spinocerebellar Ataxia
  • Ataxia UK
    Lincoln House
    1-3 Brixton Road
    London SW9 6DE
    United Kingdom
    Phone: 0845 644 0606 (helpline); 020 7582 1444 (office); +44 (0) 20 7582 1444 (from abroad)
  • euro-ATAXIA (European Federation of Hereditary Ataxias)
    Ataxia UK
    Lincoln House, Kennington Park, 1-3 Brixton Road
    London SW9 6DE
    United Kingdom
    Phone: +44 (0) 207 582 1444
  • Spanish Ataxia Federation (FEDAES)
    Phone: 34 983 278 029; 34 985 097 152; 34 634 597 503

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Spinocerebellar Ataxia Type 10: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
ATXN1022q13​.31Ataxin-10ATXN10 databaseATXN10ATXN10

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for Spinocerebellar Ataxia Type 10 (View All in OMIM)

611150ATAXIN 10; ATXN10

Gene structure. ATXN10 consists of 12 exons spanning 172.8 kb. The open reading frame is 1428 bp. An ATTCT repeat is located within the 66.4-kb intron 9.

Benign allelic variants. Normal alleles are ten to 32 ATTCT repeats in length [Matsuura et al 2000, Matsuura et al 2006]. ATTCT repeats ranging from 400 to 760 have been found in Brazilian individuals with SCA10; whether they are full-penetrance alleles is at present unclear [Alonso et al 2006]. Alleles of 280, 360, and 370 ATTCTs may be intermediate alleles with reduced or no penetrance [Alonso et al 2006, Matsuura et al 2006]. A category of mutable normal alleles has not been identified.

Note: See Molecular Genetic Testing, Allele sizes for issues related to the differentiation of reduced- and full-penetrance alleles.

Pathogenic allelic variants. Expanded alleles range from about 800 to 4,500 ATTCT repeats [Matsuura et al 2000]

  • Structure of ATTCT repeats
    • Normal alleles. Sequence analysis of ATXN10 alleles ranging from 11 to 16 repeats showed tandem ATTCT repeats without interruptions [Matsuura et al 2000].
      About 70% of large normal alleles (≥17 repeats), which comprise about 7% of normal alleles, have ATTGT-TTTCT or TTTCT interruptions at the second to the last repeat [Matsuura et al 2006].
    • Reduced-penetrance alleles. The sequence of one allele of 280 ATTCT repeats with apparent reduced penetrance showed a complex pattern of interruptions, including multiple repetitive ATGCT repeats at the 5' end of the expansion and ATTCTAT septanucleotide repeats at the 3' end.
    • Full-penetrance alleles. Limited sequencing of fully expanded ATTCT repeat alleles showed interruptions by multiple ATTTTCTs and ATATTCTs or uninterrupted ATTCTs, depending on the family from which the mutated allele was obtained [Matsuura et al 2006].
  • Mechanism. In vitro studies with plasmid constructs showed that uninterrupted alleles of 11 to 46 ATTCT repeats formed unpaired structures [Potaman et al 2003]. These short ATTCT repeats undergo repeat-length mutation involving complex events including inversion and transition at the 3' end within the AGAAT, presumably derived from inversion repeat [Potaman et al 2006]. Studies in yeast suggested that the instability of ATTCT repeats is dependent on Rad5 and Tof1, genes involved in replication irregularities [Cherng et al 2011]. Whether the behavior of these plasmid constructs of relatively short ATTCT repeats is relevant to the expanded ATTCT repeat in humans is unclear. However, inter- and intramolecular strand switches may play a role in derivation of the complex interruptions of the expanded ATTCT repeat observed in individuals with SCA10.
  • Evolution. Comparative genome analysis showed that the ATXN10 pentanucleotide repeat originated from the poly (A) tail of AluSx inserted into an early primate genome and evolved into unstable ATTCT repeats during primate evolution, similar to the trinucleotide repeats that cause Friedreich ataxia and myotonic dystrophy type 2 [Kurosaki et al 2009, Kurosaki et al 2012].
  • Instability of expanded ATTCT repeats
    • Gender effects. The expanded ATTCT repeat shows repeat-size instability when it is transmitted from generation to generation [Matsuura et al 2004]. The pattern of the instability depends on the gender of the transmitting parent. During paternal transmission, the expanded ATTCT repeats are highly unstable, whereas maternal transmission is mostly accompanied by no changes or changes of a smaller magnitude.
    • Somatic instability. The expansion size is unstable in somatic tissues as evidenced by the "smeared" appearance of expanded alleles and multiple distinct expansion alleles on PCR and Southern blot analyses; however, the instability in some individuals with SCA10 is relatively limited compared with that seen in other repeat-expansion disorders. For example, blood samples obtained over a five-year interval showed no changes of expanded alleles. Expanded ATXN10 alleles show a greater degree of instability in a small number of sperm samples, consistent with the instability observed with paternal transmissions. Judging from the stable maternal transmission of expanded alleles, the expansion size is expected to be relatively stable in female germline cells. No data regarding the instability of expanded alleles during fetal development are available.

Table 2.

Selected ATXN10 Allelic Variants

Variant ClassificationDNA Nucleotide ChangePredicted Protein ChangeReference Sequences
(10 to 32 ATTCT repeats)
Pathogenicc.1430+54822_54826ATTCT[280] 1None
c.1430+54822_54826ATTCT(360_370) 1
(360 to 370 ATTCT repeats)
c.1430+54822_54826ATTCT(400_760) 1
(400 to 760 ATTCT repeats)
c.1430+54822_54826ATTCT(850) 1
(850 ATTCT repeats)
c.1430+54822_54826ATTCT(800_4500) 2
(800 to 4500 ATTCT repeats)

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​ See Quick Reference for an explanation of nomenclature.


May be alleles with reduced or no penetrance [Alonso et al 2006, Matsuura et al 2006]. See Molecular Genetic Testing, Allele sizes.


Alleles with full penetrance. The lower end of the fully penetrant allele range of 800 is not well defined; overlap with reduced-penetrance alleles exists.

Normal gene product. The 475-amino acid ataxin-10 protein is a globular protein that tends to form a tip-to-tip homotrimeric complex with the concave sides of the molecule facing each other in solution [März et al 2004]. The protein is without transmembrane domains, nuclear localization signal, or other type of signal peptide (Golgi, peroxisomal, vacuolar, or endoplasmic reticulum retention). It does not appear to contain any known functional motifs, clusters, or unusual patterns of charged amino acids or internal repeats of specific amino acid runs. The predicted tertiary structure is unremarkable [Matsuura et al 2000]. However, the C-terminal domain (287-433) contains two armadillo repeat domains [März et al 2004].

ATXN10 is ubiquitously expressed. Strong expression is observed in brain, heart, muscle, kidney, and liver [Wakamiya et al 2006]. The physiologic function of ataxin-10 is poorly understood. However, ataxin-10 deficiency by small interfering RNA (siRNA) caused apoptosis of cerebellar neurons in primary cell culture [März et al 2004]. Ataxin-10 has been shown to interact with O-linked GlcNAc transferase, which catalyzes modifications of several nuclear and cytoplasmic proteins in metazoans [Andrali et al 2005], and with heteromeric G-protein beta 2 subunit (Gβ2) [Waragai et al 2006]. PC12 cells overexpressing ataxin-10 show evidence of enhanced differentiation with long neurite outgrowth. Coexpression of ataxin-10 and Gβ2 further potentiates the ataxin-10-induced differentiation by activating the Ras-MAP kinase-Elk-1 cascade in PC12 cells [Waragai et al 2006]. Thus, ataxin-10 may play a role in survival and differentiation of neurons or neuron-like cells.

Abnormal gene product. Data from in vitro and animal model systems support a RNA-gain-of-function hypothesis as the cause of SCA10. .

Because the ATTCT repeat is located within intron 9, it does not code for a protein. The pathogenic effect of the ATTCT expansion in intron 9 of ATXN10 is not fully understood. However, studies of lymphoblastoid cells, fibroblasts, and somatic cell hybrids derived from individuals with SCA10 suggest that expansion of the ATTCT repeat does not interfere with the transcription and post-transcriptional processing of mutated ATXN10 [Wakamiya et al 2006]. Therefore, the expanded ATTCT repeat is transcribed into expanded AUUCU repeats in the unprocessed mutated RNA transcript, and intron 9 containing the expanded AUUCU repeat is correctly spliced out. Consequently, the level of processed mRNA from mutated ATXN10 is unaltered. Furthermore, genetically altered mice heterozygous for ataxin-10 deficiency exhibit no disease phenotype, while homozygous deficiency of ataxin-10 is embryonically lethal [Wakamiya et al 2006]. In addition, a case of balanced translocation that disrupts ATXN10 showed no phenotype, suggesting that haploinsufficiency is an unlikely mechanism for SCA10 [Keren et al 2010]. These data suggest that aberrant ataxin-10 proteins are unlikely to play a role in SCA10 pathogenesis, and raises the hypothesis that gain of function by the mutated RNA leads to abnormal cellular functions in target tissues. In fibroblasts derived from individuals affected with SCA10 and in cells ectopically expressing expanded AUUCU repeats, RNA foci containing AUUCU repeats were observed. AUUCU repeats bind in vitro to the heterogeneous nuclear ribonucleoprotein K (hnRNP K), a ribonuclear protein which regulates RNA homeostasis. The RNA foci colocalize with hnRNP K, suggesting that expanded AUUCU repeats sequester hnRNP K. Overexpression of expanded AUUCU induces caspase 3-mediated apoptosis, as does down-regulation of hnRNP K by siRNA. Overexpression of hnRNP K rescued the cells expressing expanded AUUCU from apoptosis. The sequestration of hnRNP K leads to translocation of protein kinase C delta (PKCδ) to mitochondria, a process known to induce apoptosis. Sequestration of hnRNP K also induces changes in splicing of its target transcripts [White et al 2010]. The hnRNP K sequestration and mitochondrial translocation of PKCδ were recapitulated in two transgenic mouse models that express untranslated expanded AUUCU repeats. These mice show neuronal loss, a motor phenotype, and susceptibility to seizures [White et al 2010, White et al 2012].


Published Guidelines/Consensus Statements

  • Committee on Bioethics, Committee on Genetics, and American College of Medical Genetics and Genomics Social, Ethical, Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Available online. 2013. Accessed 11-7-16. [PubMed: 23428972]
  • National Society of Genetic Counselors. Position statement on genetic testing of minors for adult-onset disorders. Available online. 2017. Accessed 11-7-16.

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Chapter Notes


This work was supported by grants from NIH NS041547 (TA), National Ataxia Foundation, National Organization for Rare Disorders and Grants-in Aid from the Ministry of Education, Culture, Sports, Science, and Technology as well as the Ministry of Health, Labor, and Welfare of Japan (TM).

Revision History

  • 20 September 2012 (me) Comprehensive update posted live
  • 9 March 2010 (me) Comprehensive update posted live
  • 13 July 2006 (me) Comprehensive update posted to live Web site
  • 13 May 2004 (me) Comprehensive update posted to live Web site
  • 23 April 2002 (me) Review posted to live Web site
  • 14 December 2001 (tm) Original submission
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