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Spinocerebellar ataxia 2(SCA2)

MedGen UID:
155704
Concept ID:
C0752121
Disease or Syndrome
Synonyms: CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; Olivopontocerebellar atrophy 2; Olivopontocerebellar atrophy Holguin type; OLIVOPONTOCEREBELLAR ATROPHY II; SCA 2; SCA2; Spinocerebellar ataxia Cuban type; Spinocerebellar ataxia with slow eye movements; Spinocerebellar atrophy 2; SPINOCEREBELLAR ATROPHY II; Spinocerebellar degeneration with slow eye movements; Wadia Swami syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Genetic anticipation
MedGen UID:
109454
Concept ID:
C0600498
Organism Attribute
Source: HPO
The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Spinocerebellar ataxia type 2 (715751004)
 
Gene (location): ATXN2 (12q24.12)
OMIM®: 183090
Orphanet: ORPHA98756

Definition

Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements and, in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration. [from GeneReviews]

Additional descriptions

From OMIM
Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (164400), SCA2, and SCA3, or Machado-Joseph disease (109150). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).  http://www.omim.org/entry/183090
From GHR
Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include speech and swallowing difficulties, rigidity, tremors, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to a decreased ability to make rapid eye movements (saccadic slowing).Over time, individuals with SCA2 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle wasting (atrophy), uncontrolled muscle tensing (dystonia), and involuntary jerking movements (chorea). Individuals with SCA2 may have problems with short term memory, planning, and problem solving, or experience an overall decline in intellectual function (dementia).Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA2 usually survive 10 to 20 years after symptoms first appear.  https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2

Clinical features

Ophthalmoplegia
MedGen UID:
45205
Concept ID:
C0029089
Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Retinitis pigmentosa
MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). Juvenile Retinitis Pigmentosa Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Autosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863), and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively). An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused by mutation in the AIPL1 gene (604392).
Gaze-evoked nystagmus
MedGen UID:
75750
Concept ID:
C0271390
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.
Slow saccadic eye movements
MedGen UID:
232942
Concept ID:
C1321329
Finding
An abnormally slow velocity of the saccadic eye movements.
Dysmetric saccades
MedGen UID:
322908
Concept ID:
C1836392
Finding
The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.
Impaired horizontal smooth pursuit
MedGen UID:
355793
Concept ID:
C1866753
Finding
An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.
Oculomotor apraxia
MedGen UID:
483686
Concept ID:
C3489733
Disease or Syndrome
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Fasciculations
MedGen UID:
5124
Concept ID:
C0015644
Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Rigidity
MedGen UID:
7752
Concept ID:
C0026837
Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
Olivopontocerebellar degeneration
MedGen UID:
10435
Concept ID:
C0028968
Disease or Syndrome
Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Postural tremor
MedGen UID:
66696
Concept ID:
C0234378
Sign or Symptom
A type of tremors that is triggered by holding a limb in a fixed position.
Dysdiadochokinesis
MedGen UID:
115975
Concept ID:
C0234979
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee.
Progressive cerebellar ataxia
MedGen UID:
140727
Concept ID:
C0393525
Disease or Syndrome
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. Their personalities may change. They may become agitated or see things that are not there. . Memory loss is a common symptom of dementia. However, memory loss by itself does not mean you have dementia. People with dementia have serious problems with two or more brain functions, such as memory and language. Although dementia is common in very elderly people, it is not part of normal aging. Many different diseases can cause dementia, including Alzheimer's disease and stroke. Drugs are available to treat some of these diseases. While these drugs cannot cure dementia or repair brain damage, they may improve symptoms or slow down the disease. NIH: National Institute of Neurological Disorders and Stroke.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Sign or Symptom
Reduction of neurologic reflexes such as the knee-jerk reaction.
Limb ataxia
MedGen UID:
196692
Concept ID:
C0750937
Finding
A kind of ataxia that affects movements of the extremities.
Decreased vibratory sensation
MedGen UID:
220959
Concept ID:
C1295585
Finding
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding
Dilated fourth ventricle
MedGen UID:
376050
Concept ID:
C1847117
Finding
An abnormal dilatation of the fourth cerebral ventricle.
Spinocerebellar tract degeneration
MedGen UID:
401075
Concept ID:
C1866751
Disease or Syndrome
Oculomotor apraxia
MedGen UID:
483686
Concept ID:
C3489733
Disease or Syndrome
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Urinary bladder sphincter dysfunction
MedGen UID:
334804
Concept ID:
C1843663
Finding
Abnormal function of a sphincter of the urinary bladder.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Distal amyotrophy
MedGen UID:
338530
Concept ID:
C1848736
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia 2
Follow this link to review classifications for Spinocerebellar ataxia 2 in Orphanet.

Professional guidelines

PubMed

van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O
Eur J Neurol 2014 Apr;21(4):552-62. Epub 2014 Jan 13 doi: 10.1111/ene.12341. PMID: 24418350
Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS.
Eur J Neurol 2010 Feb;17(2):179-88. Epub 2009 Dec 28 doi: 10.1111/j.1468-1331.2009.02873.x. PMID: 20050888

Recent clinical studies

Etiology

Singh A, Faruq M, Mukerji M, Dwivedi MK, Pruthi S, Kapoor S
J Child Neurol 2014 Jan;29(1):139-44. Epub 2013 Dec 2 doi: 10.1177/0883073813509015. PMID: 24300164
Kasumu A, Bezprozvanny I
Cerebellum 2012 Sep;11(3):630-9. doi: 10.1007/s12311-010-0182-9. PMID: 20480274Free PMC Article
Federighi P, Cevenini G, Dotti MT, Rosini F, Pretegiani E, Federico A, Rufa A
Brain 2011 Mar;134(Pt 3):879-91. doi: 10.1093/brain/awr009. PMID: 21354979
Velázquez-Perez L, Rodríguez-Labrada R, Canales-Ochoa N, Sanchez-Cruz G, Fernandez-Ruiz J, Montero JM, Aguilera-Rodríguez R, Diaz R, Almaguer-Mederos LE, Truitz AP
J Neurol Sci 2010 Mar 15;290(1-2):22-6. Epub 2010 Jan 12 doi: 10.1016/j.jns.2009.12.013. PMID: 20070987
Moutou C, Nicod JC, Gardes N, Viville S
Prenat Diagn 2008 Feb;28(2):126-30. doi: 10.1002/pd.1909. PMID: 18236424

Diagnosis

Salvatore E, Tedeschi E, Mollica C, Vicidomini C, Varrone A, Coda AR, Brunetti A, Salvatore M, De Michele G, Filla A, Pappatà S
Mov Disord 2014 May;29(6):780-6. Epub 2013 Dec 27 doi: 10.1002/mds.25757. PMID: 24375449
Velázquez-Perez L, Rodríguez-Labrada R, Canales-Ochoa N, Sanchez-Cruz G, Fernandez-Ruiz J, Montero JM, Aguilera-Rodríguez R, Diaz R, Almaguer-Mederos LE, Truitz AP
J Neurol Sci 2010 Mar 15;290(1-2):22-6. Epub 2010 Jan 12 doi: 10.1016/j.jns.2009.12.013. PMID: 20070987
Rottnek M, Riggio S, Byne W, Sano M, Margolis RL, Walker RH
Am J Psychiatry 2008 Aug;165(8):964-7. doi: 10.1176/appi.ajp.2008.08020285. PMID: 18676601
Lastres-Becker I, Rüb U, Auburger G
Cerebellum 2008;7(2):115-24. doi: 10.1007/s12311-008-0019-y. PMID: 18418684
Moutou C, Nicod JC, Gardes N, Viville S
Prenat Diagn 2008 Feb;28(2):126-30. doi: 10.1002/pd.1909. PMID: 18236424

Therapy

Wilkins A, Brown JM, Barker RA
Mov Disord 2004 May;19(5):593-5. doi: 10.1002/mds.10715. PMID: 15133829
Payami H, Nutt J, Gancher S, Bird T, McNeal MG, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton AA, Singleton AB, Hardy J, Farrer M
Mov Disord 2003 Apr;18(4):425-9. doi: 10.1002/mds.10375. PMID: 12671950
Sasaki H, Wakisaka A, Sanpei K, Takano H, Igarashi S, Ikeuchi T, Iwabuchi K, Fukazawa T, Hamada T, Yuasa T, Tsuji S, Tashiro K
J Neurol Sci 1998 Aug 14;159(2):202-8. PMID: 9741408
Sasaki H, Fukazawa T, Wakisaka A, Hamada K, Hamada T, Koyama T, Tsuji S, Tashiro K
J Neurol Sci 1996 Dec;144(1-2):176-81. PMID: 8994121

Prognosis

Salvatore E, Tedeschi E, Mollica C, Vicidomini C, Varrone A, Coda AR, Brunetti A, Salvatore M, De Michele G, Filla A, Pappatà S
Mov Disord 2014 May;29(6):780-6. Epub 2013 Dec 27 doi: 10.1002/mds.25757. PMID: 24375449
Kim JS, Kim JS, Youn J, Seo DW, Jeong Y, Kang JH, Park JH, Cho JW
Mov Disord 2013 Aug;28(9):1271-7. Epub 2013 Apr 22 doi: 10.1002/mds.25464. PMID: 23609488
Velázquez-Perez L, Rodríguez-Labrada R, Canales-Ochoa N, Sanchez-Cruz G, Fernandez-Ruiz J, Montero JM, Aguilera-Rodríguez R, Diaz R, Almaguer-Mederos LE, Truitz AP
J Neurol Sci 2010 Mar 15;290(1-2):22-6. Epub 2010 Jan 12 doi: 10.1016/j.jns.2009.12.013. PMID: 20070987
Bürk K, Globas C, Bösch S, Gräber S, Abele M, Brice A, Dichgans J, Daum I, Klockgether T
Brain 1999 Apr;122 ( Pt 4):769-77. PMID: 10219787
Aguiar J, Santurlidis S, Nowok J, Alexander C, Rudnicki D, Gispert S, Schulz W, Auburger G
Biochem Biophys Res Commun 1999 Jan 19;254(2):315-8. doi: 10.1006/bbrc.1998.9929. PMID: 9918835

Clinical prediction guides

Velázquez-Pérez L, Rodríguez-Labrada R, Cruz-Rivas EM, Fernández-Ruiz J, Vaca-Palomares I, Lilia-Campins J, Cisneros B, Peña-Acosta A, Vázquez-Mojena Y, Diaz R, Magaña-Aguirre JJ, Cruz-Mariño T, Estupiñán-Rodríguez A, Laffita-Mesa JM, González-Piña R, Canales-Ochoa N, González-Zaldivar Y
Cerebellum 2014 Oct;13(5):568-79. doi: 10.1007/s12311-014-0574-3. PMID: 24906824
Federighi P, Cevenini G, Dotti MT, Rosini F, Pretegiani E, Federico A, Rufa A
Brain 2011 Mar;134(Pt 3):879-91. doi: 10.1093/brain/awr009. PMID: 21354979
Velázquez-Perez L, Rodríguez-Labrada R, Canales-Ochoa N, Sanchez-Cruz G, Fernandez-Ruiz J, Montero JM, Aguilera-Rodríguez R, Diaz R, Almaguer-Mederos LE, Truitz AP
J Neurol Sci 2010 Mar 15;290(1-2):22-6. Epub 2010 Jan 12 doi: 10.1016/j.jns.2009.12.013. PMID: 20070987
Lastres-Becker I, Rüb U, Auburger G
Cerebellum 2008;7(2):115-24. doi: 10.1007/s12311-008-0019-y. PMID: 18418684
Moutou C, Nicod JC, Gardes N, Viville S
Prenat Diagn 2008 Feb;28(2):126-30. doi: 10.1002/pd.1909. PMID: 18236424

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