Annals of Indian Academy of Neurology
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REVIEW: SYSTEMATIC (SYSTEMATIC REVIEW OF A SUBJECT)
Year : 2013  |  Volume : 16  |  Issue : 3  |  Page : 295-303

An update on Spino-cerebellar ataxias


R.G. Chamaria Medical Research Center Institute of Neurosciences, Kolkata, India

Correspondence Address:
Hrishikesh Kumar
Director, R.G. Chamaria Medical Research Center, Institute of Neurosciences, 185/1 AJC Bose Road, Kolkata - 700 017
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.116896

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The dominantly inherited ataxias, also known as Spino-cerebellar ataxias (SCAs), are rapidly expanding entities. New mutations are being identified at remarkable regularity. Recent awareness of molecular abnormalities in SCAs has addressed some of the long sought questions, but gaps in knowledge still exist. Three major categories of SCAs, according to molecular mechanisms, have evolved over recent few years: Polyglutamate expansion ataxia, non-coding zone repeat ataxia, and ataxia due to conventional mutation. Using the fulcrum of these mechanisms, the article provides an update of SCAs. Shared and specific clinical features, genetic abnormalities, and possible links between molecular abnormalities and cerebellar degeneration have been discussed. Emphasis has been placed on the mechanisms of polyglutamate toxicity.


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