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 18F‐dopa uptake similar to Parkinson's diseas...

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Bibliographic Details
Published in:Movement disorders 2005-09, Vol.20 (9), p.1115-1119
Main Authors: Khan, Naheed L., Giunti, Paola, Sweeney, Mary G., Scherfler, Christoph, Brien, Michael O., Piccini, Paola, Wood, Nicholas W., Lees, Andrew J.
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Biological and medical sciences
CACNA1Al 18F Dopa PET
Calcium Channels - genetics
cerebellar ataxia
Corpus Striatum - metabolism
Corpus Striatum - physiopathology
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Fluorodeoxyglucose F18 - pharmacokinetics
Human viral diseases
Humans
Infectious diseases
Male
Medical sciences
Middle Aged
Neurology
Parkinsonian Disorders - diagnosis
Parkinsonian Disorders - etiology
Parkinsonian Disorders - physiopathology
parkinsonism
Pedigree
Phenotype
Point Mutation - genetics
Positron-Emission Tomography
SCA6
Spinocerebellar Ataxias - complications
Spinocerebellar Ataxias - diagnosis
Spinocerebellar Ataxias - genetics
Substantia Nigra - metabolism
Substantia Nigra - physiopathology
Trinucleotide Repeat Expansion - genetics
Viral diseases
Viral diseases of the nervous system
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Summary: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 18F‐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. © 2005 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.20564