Spinocerebellar ataxia type 23: a genetic update.

doi:10.1007/s12311-008-0085-1

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Article

Spinocerebellar ataxia type 23: a genetic update.

Cerebellum (London, England) - 1 Jun 2009

Verbeek Dineke S

Abstract excerpt

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...

Topics

Adult
Age of Onset
Cerebellum
Chromosome Mapping
Chromosomes, Human, Pair 20
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Genetic Testing
Genotype
Humans
Inclusion Bodies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mutation

Nerve Degeneration

Netherlands

Neurons

Source

Open in PubMed Open full text

Identifiers

PMID: 19089525
DOI: 10.1007/s12311-008-0085-1
PMCID: PMC2694919

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