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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 type 2; 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
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
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)
 
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 are 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.  http://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2

Clinical features

Urinary bladder sphincter dysfunction
MedGen UID:
334804
Concept ID:
C1843663
Finding
Slow saccadic eye movements
MedGen UID:
232942
Concept ID:
C1321329
Finding
Dysmetric saccades
MedGen UID:
322908
Concept ID:
C1836392
Finding
Impaired horizontal smooth pursuit
MedGen UID:
355793
Concept ID:
C1866753
Finding
Retinitis pigmentosa
MedGen UID:
504473
Concept ID:
CN000477
Finding
Hereditary degeneration and atrophy of the retina.
Ophthalmoplegia
MedGen UID:
504518
Concept ID:
CN000564
Finding
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Gaze-evoked nystagmus
MedGen UID:
504533
Concept ID:
CN000601
Finding
Nystagmus made apparent by looking to the right or to the left.
Oculomotor apraxia
MedGen UID:
504541
Concept ID:
CN000618
Finding
Inability to follow objects visually with compensatory head movements, decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Hyporeflexia
MedGen UID:
101804
Concept ID:
C0151888
Finding
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
Dysarthria
MedGen UID:
333395
Concept ID:
C1839743
Finding
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding
Dilated fourth ventricle
MedGen UID:
376050
Concept ID:
C1847117
Finding
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Progressive cerebellar ataxia
MedGen UID:
347902
Concept ID:
C1859521
Finding
Oculomotor apraxia
MedGen UID:
504541
Concept ID:
CN000618
Finding
Inability to follow objects visually with compensatory head movements, decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Dementia
MedGen UID:
504574
Concept ID:
CN000683
Finding
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Myoclonus
MedGen UID:
504806
Concept ID:
CN001224
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Rigidity
MedGen UID:
505075
Concept ID:
CN001866
Finding
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.
Bradykinesia
MedGen UID:
505077
Concept ID:
CN001869
Finding
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).
Limb ataxia
MedGen UID:
505079
Concept ID:
CN001872
Finding
A kind of ataxia that affects movements of the extremities.
Dysdiadochokinesis
MedGen UID:
505084
Concept ID:
CN001877
Finding
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.
Postural tremor
MedGen UID:
505141
Concept ID:
CN001971
Finding
A type of tremors that is triggered by holding a limb in a fixed position.
Fasciculations
MedGen UID:
505219
Concept ID:
CN002161
Finding
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.
Impaired vibratory sensation
MedGen UID:
505253
Concept ID:
CN002266
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.
Spinocerebellar tract degeneration
MedGen UID:
505255
Concept ID:
CN002274
Finding
Olivopontocerebellar atrophy
MedGen UID:
505268
Concept ID:
CN002308
Finding
Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Ophthalmoplegia
MedGen UID:
504518
Concept ID:
CN000564
Finding
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
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:
504771
Concept ID:
CN001152
Finding
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:
505575
Concept ID:
CN003339
Finding
Muscular atrophy affecting muscles in the distal portions of the extremities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGSpinocerebellar ataxia 2

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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

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. [Epub ahead of print] 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. [Epub ahead of print] 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
Moutou C, Nicod JC, Gardes N, Viville S
Prenat Diagn 2008 Feb;28(2):126-30. doi: 10.1002/pd.1909. PMID: 18236424
Velázquez-Pérez L, Seifried C, Santos-Falcón N, Abele M, Ziemann U, Almaguer LE, Martínez-Góngora E, Sánchez-Cruz G, Canales N, Pérez-González R, Velázquez-Manresa M, Viebahn B, von Stuckrad-Barre S, Fetter M, Klockgether T, Auburger G
Ann Neurol 2004 Sep;56(3):444-7. doi: 10.1002/ana.20220. PMID: 15349876

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 20070987
Estrada R, Galarraga J, Orozco G, Nodarse A, Auburger G
Acta Neuropathol 1999 Mar;97(3):306-10. PMID: 10090679
Cancel G, Dürr A, Didierjean O, Imbert G, Bürk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimarães J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, Saudou F, Lebre AS, Yahyaoui M, Hentati F, Vernant JC, Klockgether T, Mandel JL, Agid Y, Brice A
Hum Mol Genet 1997 May;6(5):709-15. PMID: 9158145

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