Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).
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.
Khan
Naheed L
NL
Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom.
Giunti
Paola
P
Sweeney
Mary G
MG
Scherfler
Christoph
C
Brien
Michael O
MO
Piccini
Paola
P
Wood
Nicholas W
NW
Lees
Andrew J
AJ
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015220:Calcium Channels / Q000235:genetics*; D003342:Corpus Striatum / Q000378:metabolism / Q000503:physiopathology*; D005260:Female; D019788:Fluorodeoxyglucose F18 / Q000493:pharmacokinetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D049268:Positron-Emission Tomography; D020754:Spinocerebellar Ataxias / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D013378:Substantia Nigra / Q000378:metabolism / Q000503:physiopathology*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; D019788:Fluorodeoxyglucose F18; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type