Journal of Genetic Syndromes & Gene Therapy
Open Access
ISSN: ISSN: 2157-7412
ISSN: ISSN: 2157-7412
Steve D Wilton
Perron Institute for Neurological and Translational Science, Sarich Neuroscience Institute,
Verdun Street, Nedlands WA 6009
Australia
Review Article
Polyglutamine ataxias: From Clinical and Molecular Features to Current Therapeutic Strategies
Author(s): Craig S McIntosh, May Thandar Aung-Htut, Sue Fletcher and Steve D Wilton
Craig S McIntosh, May Thandar Aung-Htut, Sue Fletcher and Steve D Wilton
Spinocerebellar ataxias are a large group of heterogeneous diseases that all involve selective neuronal degeneration and accompanied cerebellar ataxia. These diseases can be further broken down into discrete groups according to their underlying molecular genetic cause. The most common are the polyglutamine ataxias, of which there are six; Spinocerebellar ataxia type 1, 2, 3, 6, 7 and 17. These diseases are characterised by a pathological expanded cytosine–adenine–guanine (CAG) repeat sequence, in the protein coding region of a given gene. Common clinical features include lack of coordination and gait ataxia, speech and swallowing difficulties, as well as impaired hand and motor functions. The polyglutamine spinocerebellar ataxias are typically late onset diseases that are progressive in nature and often lead to premature death, for which there is currently no known cure or.. View More»
DOI:
10.4172/2157-7412.1000319