title: Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).
abstract: 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.
authors.affiliation: Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom.
authors.forename: Naheed L
authors.initials: NL
authors.lastname: Khan
authors.forename: Paola
authors.initials: P
authors.lastname: Giunti
authors.forename: Mary G
authors.initials: MG
authors.lastname: Sweeney
authors.forename: Christoph
authors.initials: C
authors.lastname: Scherfler
authors.forename: Michael O
authors.initials: MO
authors.lastname: Brien
authors.forename: Paola
authors.initials: P
authors.lastname: Piccini
authors.forename: Nicholas W
authors.initials: NW
authors.lastname: Wood
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Lees
mesh_terms: 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
chemical_list: D015220:Calcium Channels; D019788:Fluorodeoxyglucose F18; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type