Journal
MOVEMENT DISORDERS
Volume 20, Issue 9, Pages 1115-1119Publisher
WILEY-BLACKWELL
DOI: 10.1002/mds.20564
Keywords
SCA6; cerebellar ataxia; CACNA1Al (18)F dopa PET; parkinsonism
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Funding
- MRC [MC_U120036861] Funding Source: UKRI
- Medical Research Council [MC_U120036861] Funding Source: researchfish
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SCA6 is a slowly progressive, late-onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L-dopa-responsive with a pattern of (18)F-dopa uptake similar to Parkinson's disease, and the second case was not L-dopa-responsive and had an atypical pattern of nigrostriatal dysfunction. We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy. (C) 2005 Movement Disorder Society.
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