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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.
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.
Oculomotor apraxia
MedGen UID:
892858
Concept ID:
C4020886
Finding
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.
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.
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).
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.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Sign or Symptom
Reduction of neurologic reflexes such as the knee-jerk reaction.
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
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Muscle 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.

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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