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The Cerebellum
Published in: The Cerebellum 2/2009

Open Access 01-06-2009

Spinocerebellar Ataxia Type 23: A Genetic Update

Author: Dineke S. Verbeek

Published in: The Cerebellum | Issue 2/2009

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Abstract

The spinocerebellar ataxia type 23 locus was identified in 2004 based on linkage analysis in a large, two-generation Dutch family. The age of onset ranged 43–56 years and the phenotype was characterized by a slowly progressive, isolated ataxia. Neuropathological examination revealed neuronal loss in the Purkinje cell layer, dentate nuclei, and inferior olives. Ubiquitin-positive intranuclear inclusions were found in nigral neurons, but were considered to be Marinesco bodies. The disease locus on chromosome 20p13-12.3 was found to span a region of approximately 6 Mb of genomic DNA, containing 97 known or predicted genes. To date, no other families have been described that also map to this SCA locus. Direct sequencing of the coding regions of 21 prioritized candidate genes did not reveal any disease-causing mutation. Apparently, the SCA23 gene is a disease gene with a different function than the genes that have been associated with other known SCA types. Work to elucidate the chromosomal organization of the SCA23 locus will eventually discover the responsible disease gene.
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Metadata
Title
Spinocerebellar Ataxia Type 23: A Genetic Update
Author
Dineke S. Verbeek
Publication date
01-06-2009
Publisher
Springer-Verlag
Published in
The Cerebellum / Issue 2/2009
Print ISSN: 1473-4222
Electronic ISSN: 1473-4230
DOI
https://doi.org/10.1007/s12311-008-0085-1

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