Erschienen in:
01.12.2014 | Case Report
Cerebrotendinous Xanthomatosis: The Effectiveness of High-Dose Piracetam for the Treatment of Cerebellar and Sensorial Ataxia
verfasst von:
Ugur Uygunoglu, Aysegul Gunduz, Sukriye F Menku, Basak Yilmaz, Esra Hatipoglu, Cengiz Yalcinkaya, Sabahattin Saip, Hulya Apaydin
Erschienen in:
The Cerebellum
|
Ausgabe 6/2014
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Excerpt
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease that is based in a deficiency of sterol 27-hydroxylase, which leads to the storage of cholestanol and cholesterol in the lenses, central nervous system and tendons [
1,
2]. The most common neurological manifestations of CTX include pyramidal signs, cerebellar ataxia, cognitive impairment, dysphagia, dysarthria and peripheral neuropathy [
3]. Brain magnetic resonance imaging (MRI) usually reveals cerebral atrophy and T2 signal changes in the dentate nucleus and, less commonly, in the spinal cord and basal ganglia [
4]. …