SCA1 molecular genetics: a history of a 13 year collaboration against glutamines.


Spinocerebellar ataxia type 1 (SCA1) is a relatively rare autosomal-dominant neurological disorder. SCA1 has the intriguing feature that the disease-causing mutation is the expansion of an unstable trinucleotide repeat, specifically a CAG repeat that encodes the amino acid glutamine in ataxin-1. During the past 10 years, substantial progress has been made… (More)