Van gen naar ziekte; autosomaal dominante cerebellaire ataxieën

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically homogeneous, yet genetically heterogeneous group of cerebellar neurodegenerative disorders for which at least 20 genes or loci have been identified to date. Trinucleotide repeat expansions constitute the predominant pathogenic mutations in about two-thirds of Dutch families with ADCAs, even though the mutational mechanisms are variable as well