CareLit · DOI-Nachweis · Klinische Neurophysiologie
Neurophysiological Characterization of Autosomal Dominant Spinocerebellar Ataxia 17
DOI 10.1055/s-2004-832237
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Autor:innenA Wolters, U Walter, R Benecke, A Rolfs
ZeitschriftKlinische Neurophysiologie
Ausgabe08/2004
Jahrgang / SeitenNicht angegeben
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Abstract-Vorschau
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)…
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Zitierempfehlung
A Wolters, U Walter, R Benecke, A Rolfs (2004) Neurophysiological Characterization of Autosomal Dominant Spinocerebellar Ataxia 17. Klinische Neurophysiologie (08). https://doi.org/10.1055/s-2004-832237
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