Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C

• Auteurs principaux: Ali A. Mohamed (Auteur), Willy Gan (Auteur), Denis Babici (Auteur), Veronica Hagan (Auteur), Raphael Wald (Auteur), Marc Swerdloff (Auteur)
• Format: Livre
• Publié: MDPI AG, 2024-05-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

(1) Background: Niemann-Pick type C1 (NP-C1) is a lysosomal storage disorder that results in the defective trafficking of cholesterol and other cellular lipids in the endosomal-lysosomal pathway. This rare autosomal recessive disorder presents in three forms based on the age of onset. The adult form...