ISSN:
1432-0533
Keywords:
Key words Ataxia
;
Autosomal dominance
;
Cerebello-olivary atrophy
;
CAG repeat expansion
;
SCA6
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract We describe a family with dominantly inherited ataxia of late adult onset. Expansion of a CAG repeat in the gene encoding the α1A voltage-dependent calcium channel was identified at autopsy in one patient, a 65-year-old woman with a disease duration of 11 years. In this patient, pathological changes were confined to the cerebellar cortex and inferior olivary complex. The cerebellar cortex showed severe loss of Purkinje cells with proliferation of Bergmann’s glia, being more pronounced in the superior parts of the vermis and hemispheres. In the inferior olivary complex, a reduced neuronal cell population, which could be interpreted as a change secondary to the cerebellar cortical lesion, was evident. We conclude that the pathological phenotype of this newly classified autosomal dominant cerebellar ataxia, SCA6, is cerebello-olivary atrophy, or more strictly cerebellar cortical atrophy.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004010050807
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