Article
Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene.
Internal medicine (Tokyo, Japan) - 1 Jan 2014
Yoshinaga Tsuneaki, Sekijima Yoshiki, Koyama Shingo, Maruyama Keiko, Yoshida Toshikazu, Kato Takeo, Ikeda Shu-ichi
Abstract excerpt
We herein describe the case of a Japanese cerebrotendinous xanthomatosis (CTX) patient with a novel CYP27A1 gene mutation. The patient had been diagnosed with cataracts at 25 years of age and subsequently developed neurological symptoms in his forties, being referred to our hospital at 47 years of age. Upon admission, Achilles tendon xanthomas, cognitive impairment, dysphagia, dysarthria, dystonia, spasticity,...
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