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Indian J Hum Genet. 2012 Sep;18(3):299-304. doi: 10.4103/0971-6866.107981.

Analysis of autosomal dominant spinocerebellar ataxia type 1 in an extended family of central India.

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  • 1Centre for Genomics, Jiwaji University, Gwalior, India.

Abstract

BACKGROUND:

Spinocerebeller ataxia type 1 (SCA1) is a specific type of ataxia among a group of inherited diseases of the central nervous system. In SCA1, genetic defects lead to impairment of specific nerve fibers carrying messages to and from the brain, resulting in the degeneration of the cerebellum, the coordination center of the brain. We investigated 24 members of an extended family in Gwalior city, India, some of which were earlier clinically diagnosed to be suffering from yet unconfirmed type of SCA neurodegenerative disorder.

MATERIALS AND METHODS:

All the family members from each age group were screened clinically and the characteristics of those resembling with ataxia were recorded for diagnosis by MRI. The confirmed patients of the family were genetically tested by PCR based molecular testing to identify the type of SCA (i.e., SCA 1, 2, 3, 4, 6 or 7). Family tree of the disease inheritance was constructed by pedigree based method.

RESULT AND CONCLUSION:

We found the clinical (symptoms and MRI) and genetic (Pedigree and PCR) results to be correlated. The PCR result revealed the disease to be of SCA 1 type being inherited in the family.

KEYWORDS:

Cerebellum; magnetic resonance imaging; pedigree; polymerase chain reaction; spinocerebeller ataxia

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