Literature DB >> 25432731

Ataxia.

Umar Akbar1, Tetsuo Ashizawa2.   

Abstract

Ataxia is a disorder of balance and coordination resulted from dysfunctions involving cerebellum and its afferent and efferent connections. While a variety of disorders can cause secondary ataxias, the list of genetic causes of ataxias is growing longer. Genetic abnormalities may involve mitochondrial dysfunction, oxidative stress, abnormal mechanisms of DNA repair, possible protein misfolding, and abnormalities in cytoskeletal proteins. Few ataxias are fully treatable while hope for efficacious gene therapy and pharmacotherapy is emerging. A discussion of the ataxias is presented here with brief mention of acquired ataxias, and a greater focus on inherited ataxias.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Ataxia; Autosomal dominant; Autosomal recessive; Diagnosis; Inherited; Mitochondrial; Sporadic; Treatment

Mesh:

Year:  2015        PMID: 25432731      PMCID: PMC4251489          DOI: 10.1016/j.ncl.2014.09.004

Source DB:  PubMed          Journal:  Neurol Clin        ISSN: 0733-8619            Impact factor:   3.806


  133 in total

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