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Spinocerebellar ataxia 6(SCA6)

MedGen UID:
148458
Concept ID:
C0752124
Disease or Syndrome
Synonyms: SCA6
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 6 (715752006)
 
Gene (location): CACNA1A (19p13.13)
OMIM®: 183086
Orphanet: ORPHA98758

Definition

Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Mean age of onset is 43 to 52 years. Initial symptoms are gait unsteadiness, stumbling, and imbalance (in ~90%) and dysarthria (in ~10%). Eventually all persons have gait ataxia, upper-limb incoordination, intention tremor, and dysarthria. Dysphagia and choking are common. Visual disturbances may result from diplopia, difficulty fixating on moving objects, horizontal gaze-evoked nystagmus, and vertical nystagmus. Hyperreflexia and extensor plantar responses occur in up to 40%-50%. Basal ganglia signs, including dystonia and blepharospasm, occur in up to 25%. Mentation is generally preserved. [from GeneReviews]

Additional description

From GHR
Spinocerebellar ataxia type 6 (SCA6) 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 SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia).Signs and symptoms of SCA6 typically begin in a person's forties or fifties but can appear anytime from childhood to late adulthood. Most people with this disorder require wheelchair assistance by the time they are in their sixties.  https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6

Clinical features

Gaze-evoked nystagmus
MedGen UID:
75750
Concept ID:
C0271390
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.
Abnormal vestibulo-ocular reflex
MedGen UID:
867213
Concept ID:
C4021571
Anatomical Abnormality
An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia 6
Follow this link to review classifications for Spinocerebellar ataxia 6 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

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
Reetz K, Costa AS, Mirzazade S, Lehmann A, Juzek A, Rakowicz M, Boguslawska R, Schöls L, Linnemann C, Mariotti C, Grisoli M, Dürr A, van de Warrenburg BP, Timmann D, Pandolfo M, Bauer P, Jacobi H, Hauser TK, Klockgether T, Schulz JB; axia Study Group Investigators.
Brain 2013 Mar;136(Pt 3):905-17. Epub 2013 Feb 18 doi: 10.1093/brain/aws369. PMID: 23423669
Hayashi M, Adachi Y, Mori M, Nakano T, Nakashima K
Acta Neurol Scand 2007 Aug;116(2):123-7. doi: 10.1111/j.1600-0404.2007.00815.x. PMID: 17661799
Tsuchiya K, Oda T, Yoshida M, Sasaki H, Haga C, Okino H, Tominaga I, Matsui K, Akiyama H, Hashizume Y
Neuropathology 2005 Jun;25(2):125-35. PMID: 15875905
Murata Y, Kawakami H, Yamaguchi S, Nishimura M, Kohriyama T, Ishizaki F, Matsuyama Z, Mimori Y, Nakamura S
Arch Neurol 1998 Oct;55(10):1348-52. PMID: 9779664

Diagnosis

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
Reetz K, Costa AS, Mirzazade S, Lehmann A, Juzek A, Rakowicz M, Boguslawska R, Schöls L, Linnemann C, Mariotti C, Grisoli M, Dürr A, van de Warrenburg BP, Timmann D, Pandolfo M, Bauer P, Jacobi H, Hauser TK, Klockgether T, Schulz JB; axia Study Group Investigators.
Brain 2013 Mar;136(Pt 3):905-17. Epub 2013 Feb 18 doi: 10.1093/brain/aws369. PMID: 23423669
Sethi KD, Jankovic J
Mov Disord 2002 Jan;17(1):150-3. PMID: 11835453
Arpa J, Cuesta A, Cruz-Martínez A, Santiago S, Sarriá J, Palau F
Acta Neurol Scand 1999 Jan;99(1):43-7. PMID: 9925237
Murata Y, Kawakami H, Yamaguchi S, Nishimura M, Kohriyama T, Ishizaki F, Matsuyama Z, Mimori Y, Nakamura S
Arch Neurol 1998 Oct;55(10):1348-52. PMID: 9779664

Prognosis

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
Arpa J, Cuesta A, Cruz-Martínez A, Santiago S, Sarriá J, Palau F
Acta Neurol Scand 1999 Jan;99(1):43-7. PMID: 9925237
Yue Q, Jen JC, Nelson SF, Baloh RW
Am J Hum Genet 1997 Nov;61(5):1078-87. doi: 10.1086/301613. PMID: 9345107Free PMC Article

Clinical prediction guides

Reetz K, Costa AS, Mirzazade S, Lehmann A, Juzek A, Rakowicz M, Boguslawska R, Schöls L, Linnemann C, Mariotti C, Grisoli M, Dürr A, van de Warrenburg BP, Timmann D, Pandolfo M, Bauer P, Jacobi H, Hauser TK, Klockgether T, Schulz JB; axia Study Group Investigators.
Brain 2013 Mar;136(Pt 3):905-17. Epub 2013 Feb 18 doi: 10.1093/brain/aws369. PMID: 23423669
Wang X, Wang H, Xia Y, Jiang H, Shen L, Wang S, Shen R, Huang L, Wang J, Xu Q, Li X, Luo X, Tang B
J Clin Neurosci 2010 Jun;17(6):751-5. Epub 2010 Mar 31 doi: 10.1016/j.jocn.2009.10.007. PMID: 20359894
Nishimura M, Kawakami H, Maruyama H, Izumi Y, Kuno S, Kaji R, Nakamura S
Neurosci Lett 2001 Jul 13;307(2):128-30. PMID: 11427317
Arpa J, Cuesta A, Cruz-Martínez A, Santiago S, Sarriá J, Palau F
Acta Neurol Scand 1999 Jan;99(1):43-7. PMID: 9925237
Murata Y, Kawakami H, Yamaguchi S, Nishimura M, Kohriyama T, Ishizaki F, Matsuyama Z, Mimori Y, Nakamura S
Arch Neurol 1998 Oct;55(10):1348-52. PMID: 9779664

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