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Myoclonus and dystonia in cerebrotendinous xanthomatosis

✍ Scribed by Lagarde, Julien; Roze, Emmanuel; Apartis, Emmanuelle; Pothalil, Deepa; Sedel, Frédéric; Couvert, Philippe; Vidailhet, Marie; Degos, Bertrand

Book ID
118764311
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
238 KB
Volume
27
Category
Article
ISSN
0885-3185

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Cerebrotendinous Xanthomatosis (CTX) is an inherited metabolic disease characterized by an inability to form specific bile acids. Bile acid precursors and cholestanol accumulate in various tissues, resulting in multiple neurologic sequelae. We report a case of a young woman who developed oromandibu