A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III-Reference-Cited by-同舟云学术

A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III

Published:2005-08-22 Issue:4 Volume:65 Page:629-632
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Owada K.,Ishikawa K.,Toru S.,Ishida G.,Gomyoda M.,Tao O.,Noguchi Y.,Kitamura K.,Kondo I.,Noguchi E.,Arinami T.,Mizusawa H.

Abstract

Presented is the new kindred with autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 (16q-ADCA type III) associated with progressive hearing loss. By haplotype analysis, the critical interval was slightly narrowed to three megabase regions between GATA01 and D16S3095. Neuropathologic study of 16q-ADCA type III demonstrated characteristic shrinkage of Purkinje cell bodies surrounded by synaptophysin-immunoreactive amorphous material containing calbindin- and ubiquitin-positive granules.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference10 articles.

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2. A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

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