Abstract
Background The autosomal dominant spinocerebellar ataxias (ADCA) are a clinically and genetically heterogeneous group of neurodegenerative disorder characterized by progressive deterioration in balance and coordination as well as cerebellar ocular disturbance. There is a lack of information about the frequency of SCAs in Gujarat (western part of India), which can be used as a common screening test in our population. The study was conducted to analyze the frequencies of SCA1, SCA2, SCA3 and SCA6 in patients with ataxia from Gujarat.
Highlights
The autosomal dominant spinocerebellar ataxias (ADCA) are a clinically and genetically heterogeneous group of neurodegenerative disorder characterized by progressive deterioration in balance and coordination as well as cerebellar ocular disturbance
The study was conducted to analyze the frequencies of SCA1, SCA2, SCA3 and SCA6 in patients with ataxia from Gujarat
Our study demonstrates that SCA2 is the commonest dominant spinocerebellar ataxia in Gujarati population followed by SCA3 affecting in the 3rd - 6th decade of life
Summary
The autosomal dominant spinocerebellar ataxias (ADCA) are a clinically and genetically heterogeneous group of neurodegenerative disorder characterized by progressive deterioration in balance and coordination as well as cerebellar ocular disturbance. Frequency analysis of Spinocerebellar ataxia types 1, 2, 3 & 6 in patients with ataxia from Gujarat Harsh Patel*, Mehul Mistri, Chitra Ankleshwaria, Frenny Sheth, Jayesh Sheth From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India.
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