CareLit Fachartikel
Neurophysiological Characterization of Autosomal Dominant Spinocerebellar Ataxia 17
A Wolters, U Walter, R Benecke, A Rolfs · Klinische Neurophysiologie · 2004 · Heft 08
Dokument
1101309
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Jahr
2004
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Zusammenfassung
Recently, trinucleotide expansion (critical limit 42±2) has been described in the TATA box binding protein gene in autosomal dominant spinocerebellar ataxia 17 (SCA 17, OMIM 600075). The clinical presentation is very variable with psychiatric disturbance, gait ataxia, dysarthria, bradykinesia and/or dystonia. We neurophysiologically characterized two families with SCA-17 using transcranial magnetic stimulation (TMS) and brain parenchyma sonography (BPS). The two families consisted of 14 individuals with genetically proven SCA-17 (trinucleotide expansion 45 to 54). 7 family members (4 male, mean age 44±9 years, m…
Schlagworte
Ataxia
Dementia
Basal Ganglia
Depression
Dilatation
Klinische Neurophysiologie
