Physiological and Molecular Study of Autosomal Dominant Neurodegenerative Diseases: Huntington's disease and Spinocerebellar Ataxias in Egyptian Patients

Abstract

Huntington's disease (liD) and spinocerebellar ataxias are autosomal dominant neurodegenerative diseases that elicit several pathological symptoms including movement abnormalities, cognitive and behavioral impairments. It was revealed that all genes associated with these genetic disorders contain CAG repeats in their coding region whose expansions are the major cause of disease progression. In this study it was found that three families (33%) were shown to be positive for HD, another two families (22%) were positive for SCA2 and one family (11%) was positive for SCAl. The remaining three families (33%) were negative for expansions in all tested genes.