Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Atrophy
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Brain / pathology
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Chromosome Aberrations
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Dementia / diagnosis
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Dementia / genetics*
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Diagnosis, Differential
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Disease Progression
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Dystonic Disorders / diagnosis
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Dystonic Disorders / genetics*
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Female
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Follow-Up Studies
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Genes, Dominant / genetics
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Genotype
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Humans
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Magnetic Resonance Imaging
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Middle Aged
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Mutation / genetics*
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Nerve Tissue Proteins / genetics*
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Neurologic Examination
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Pedigree
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Peptides / genetics*
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Phenotype
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Spinocerebellar Ataxias / diagnosis
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Spinocerebellar Ataxias / genetics*
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Spinocerebellar Degenerations / diagnosis
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Spinocerebellar Degenerations / genetics*
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TATA-Box Binding Protein / genetics*
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Tomography, X-Ray Computed
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Torticollis / diagnosis
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Torticollis / genetics*
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Trinucleotide Repeat Expansion / genetics*
Substances
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Nerve Tissue Proteins
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Peptides
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TATA-Box Binding Protein
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polyglutamine