| MB Muzaimi |
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Section of Neurology, Deparment of Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, United Kingdom
e-mail: drchik@hotmail.com |
Poster Presentation: |
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| Writer's cramp, hypothyroidism and cerebellar ataxia: prelude to spinocerebellar ataxia type 6. |
| Muzaimi MB, Compston DAS, Wiles CM, Ravine D, Robertson NP |
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Department of Medicine/Neurology and Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XN, UK and Neurology Unit, University of Cambridge, Addenbrookes Hospital, Hills Road, Cambridge CB2 2QQ, UK |
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| Autosomal dominant cerebellar ataxias (ADCA) are characterised by clinical and
genetic heterogeneity. Spinocerebellar ataxia type 6 (SCA 6) is caused by
unstable CAG repeat expansions in the alpha-1 voltage-gated calcium channel
(CACNA1A) gene. Substantial overlapping features are recognised among
subtypes of ADCA. Availability of molecular testing has provided increasing
appreciation of a wider clinical spectrum than previously thought for each ADCA
subgroup. We present a confirmed case of SCA 6 with a focal dystonia presentation
for several years, and a diagnosis of autoimmune hypothyroidism, preceeding the onset
of progressive gait ataxia. |
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