Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

TitleMutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
Publication TypeJournal Article
Year of Publication2012
AuthorsFogel, BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G
JournalMovement disorders : official journal of the Movement Disorder Society
Volume27
Issue3
Pagination442-6
Date Published2012 Mar
ISSN1531-8257
KeywordsAdult, Aged, Cerebellar Ataxia, Databases, Bibliographic, Enkephalins, Female, Genetic Predisposition to Disease, Genetic Testing, Heat-Shock Proteins, Humans, Lamin Type B, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Nerve Tissue Proteins, Nuclear Proteins, Phenotype, Protein Precursors, RNA Helicases, Transglutaminases
Abstract

Sporadic-onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia.

DOI10.1111/j.1460-9568.2012.08054.x
Alternate JournalMov. Disord.