SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

Abstract

Autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of progressive diseases characterized by cerebellar degeneration, often accompanied by degenerative changes in the brainstem, basal ganglia, cerebral cortex, spinal cord, and peripheral nervous system.^1-3 To date, 28 genetic loci have been linked to ADCAs, and, among these, 18 genes have been identified. However, the underlying cause of disease in up to 50% of patients with ADCAs remains unknown.^2,4