Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention

Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention

Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by mutations in the <i>CYP27A1</i> gene, leading to cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is an underrecognized feature with considerable variability in clinical pr...

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Main Authors: Antonio Edvan Camelo-Filho, Pedro Lucas Grangeiro Sá Barreto Lima, Francisco Luciano Honório Barreto Cavalcante, Oliver Reiks Miyajima, Carolina Figueiredo Santos, Rodrigo Fagundes da Rosa, André Luiz Santos Pessoa, Pedro Braga-Neto, Paulo Ribeiro Nóbrega
Format: Article
Language:English
Published: MDPI AG 2024-11-01
Series:Brain Sciences
Subjects:
cerebrotendineous xanthomatosis
polyneuropathy
EMG
nerve ultrasound
Online Access:https://www.mdpi.com/2076-3425/14/11/1159
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