Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein.
The spinocerebellar ataxia type 17 (SCA17) is characterized by cerebellar ataxia, dementia, and involuntary movements, including chorea and dystonia. In addition, psychiatric symptoms, pyramidal signs, and rigidity are common. MRI shows variable atrophy of the cerebrum, brainstem, and cerebellum. The autosomal dominantly inherited progressive neurodegenerative disorder is caused by an expanded CAA/CAG repeat coding for glutamine. Alleles of the normal range carry 25 to 42 glutamine residues, disease causing alleles 43 to 63. Alleles with 43 to 48 glutamine codons may be associated with incomplete penetrance. The mean age of onset is about 30 years for individuals with full-penetrance alleles, but ranges from three to 55 years.
Zühlke
Christine
C
Institute of Human Genetics, University of Lübeck, Lübeck, Germany. christine.zuehlke@uk-sh.de
Bürk
Katrin
K
D017668:Age of Onset; D000483:Alleles; D001480:Basal Ganglia Diseases / Q000209:etiology / Q000503:physiopathology; D002531:Cerebellum / Q000473:pathology; D003071:Cognition / Q000502:physiology; D004247:DNA / Q000235:genetics; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005820:Genetic Testing; D005838:Genotype; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics / Q000473:pathology; D006801:Humans; D009154:Mutation / Q000502:physiology*; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D035181:TATA-Box Binding Protein / Q000235:genetics* / Q000502:physiology*; D019680:Trinucleotide Repeat Expansion
D035181:TATA-Box Binding Protein; D004247:DNA