2nd Workshop Neurogenetics in Germany, Munich, October 19-21, 1995
Autosomal dominant cerebellar ataxias (ADCA) are a clinically and genetically heterogenous group of neurological disorders primarily affecting the motor system. These diseases are characterized by degeneration of the cerebellum, spinal cord, and brainstem resulting in progressive ataxia, dysphagia, and dysarthria.
Defective genes causing the diseases were localized on chromosome 6p (SCAl) and 14q (SCA3/MJD). Highly polymorphic GAG repeats which are unstable and expanded in individuals with ADCA were identified in these genes. We investigated patients neurologically and determined the number of GAG repeats. Here, we report first results of our families with ADCA.
autosomal dominant cerebellar ataxia (ADCA)
CAG repeat expansion