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The Autosomal Recessive Cerebellar Ataxias
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The Autosomal Recessive Cerebellar Ataxias
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Journal Article
The Autosomal Recessive Cerebellar Ataxias
2012
Overview
Autosomal recessive cerebellar ataxia must be considered in any child or young adult with a progressive disorder of gait or balance or with hypotonia or excessive clumsiness. This review presents a practical approach to these neurodegenerative diseases.
The autosomal recessive cerebellar ataxias are a group of little known and often neglected diseases that are best understood by following a practical, multidisciplinary approach that focuses on clinical rather than molecular considerations. This review focuses on the main forms in which cerebellar ataxia is a prominent sign. It does not attempt to revisit all of the ataxias of this type. Cerebellar ataxia (from the Greek words “a,” meaning “not,” and “taxis,” meaning “order”) is characterized by an incoordination of movement and unsteadiness (see Video 1, available with the full text of this article at NEJM.org) due to cerebellar dysfunction. . . .
Publisher
Massachusetts Medical Society
Subject
/ Ataxia
/ Ataxia Telangiectasia - diagnosis
/ Ataxia Telangiectasia - genetics
/ Ataxia Telangiectasia - therapy
/ Atrophy
/ Balance
/ Biological and medical sciences
/ Cerebellar Ataxia - diagnosis
/ Cerebellar Ataxia - genetics
/ Disease
/ Friedreich Ataxia - diagnosis
/ Friedreich Ataxia - genetics
/ Gait
/ Humans
/ NMR
/ Patients
/ Proteins
/ Signs
