Format

Send to:

Choose Destination

Links from PubMed

Spinocerebellar ataxia 6(SCA6)

MedGen UID:
148458
Concept ID:
C0752124
Disease or Syndrome
Synonyms: SCA6; Spinocerebellar Ataxia Type 6
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
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)
 
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.  http://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.
Impaired smooth pursuit
MedGen UID:
325176
Concept ID:
C1837458
Finding
An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.
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.
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.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is the most common type of chronic, episodic headache, as summarized by Featherstone (1985). One locus for migraine with or without aura (MGR1) has been identified on chromosome 4q24. Other loci for migraine have been identified on 6p21.1-p12.2 (MGR3; 607498), 14q21.2-q22.3 (MGR4; 607501), 19p13 (MGR5; 607508), 1q31 (MGR6; 607516), 15q11-q13 (MGR7; 609179), 5q21 (with or without aura, MGR8, 609570; with aura, MGR9, 609670), 17p13 (MGR10; 610208), 18q12 (MGR11; 610209), 10q22-q23 (MGR12; 611706), and the X chromosome (MGR2; 300125). Mutation in the KCNK18 gene (613655) on chromosome 10q25 causes migraine with aura (MGR13; 613656). A subtype of autosomal dominant migraine with aura (MA), familial hemiplegic migraine (FHM; see 141500), is caused by mutation in the CACNA1A gene (601011) on chromosome 19p13 (FHM1; 141500), by mutation in the ATP1A2 gene (182340) on chromosome 1q21 (FHM2; 602481), or by mutation in the SCN1A gene (182389) on chromosome 2q24 (FHM3; 609634). Another locus for FHM has been mapped to chromosome 1q31 (FHM4; see 607516). There is evidence that a polymorphism in the estrogen receptor gene (ESR1; 133430.0005) and a polymorphism in the TNF gene (191160.0004) may confer susceptibility to migraine. A polymorphism in the endothelin receptor type A gene (EDNRA; 131243.0001) may confer resistance to migraine.
Sensory neuropathy
MedGen UID:
101791
Concept ID:
C0151313
Disease or Syndrome
Peripheral neuropathy affecting the sensory nerves.
Progressive cerebellar ataxia
MedGen UID:
140727
Concept ID:
C0393525
Disease or Syndrome
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Atrophy (wasting) of the cerebellum.
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.

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. [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

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
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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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
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
Matsuyama Z, Kawakami H, Maruyama H, Izumi Y, Komure O, Udaka F, Kameyama M, Nishio T, Kuroda Y, Nishimura M, Nakamura S
Hum Mol Genet 1997 Aug;6(8):1283-7. PMID: 9259274

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...