Focal dystonia as a presenting sign of spinocerebellar ataxia 17.
We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia.
Department of Neurology, University of Lübeck, Lübeck, Germany. Hagenah_J@neuro.mu-luebeck.de
Johann M
JM
Hagenah
Christine
C
Zühlke
Yorck
Y
Hellenbroich
Wolfgang
W
Heide
Christine
C
Klein
D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations; D003704:Dementia / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D018450:Disease Progression; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant / Q000235:genetics; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D010455:Peptides / Q000235:genetics*; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*; D035181:TATA-Box Binding Protein / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014103:Torticollis / Q000175:diagnosis / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D009419:Nerve Tissue Proteins; D010455:Peptides; D035181:TATA-Box Binding Protein; C097188:polyglutamine