Studies Of Hereditary Neurological Disease: Disease Gene Identification

$988,642ZIAFY2009NSNIH

National Institute Of Neurological Disorders And Stroke

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Abstract

The purpose of this research program is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. A genetic outreach program allows the identification and characterization of patients and families with hereditary neurological diseases. Specific research accomplishments in the past year include the evaluation of novel mutations for lafora body disease and spinocerebellar ataxia type 20, and candidate genes for familial autoimmune myasthenia gravis (ENOX), Charcot-Marie-Tooth disease type 2C (TRPV4), and a new form of hereditary spastic paraplegia mapped to chromosome 19.

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