[From gene to disease; autosomal dominant cerebellar ataxias].
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.
Kremer
H P
HP
Universitair Medisch Centrum St Radboud, afd. Neurologie, Postbus 9101, 6500 HB Nijmegen.
van de Warrenburg
B P
BP
Sinke
R J
RJ
D002524:Cerebellar Ataxia / Q000235:genetics*; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D009154:Mutation; D009426:Netherlands; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*