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

• Main Authors: Ali A. Mohamed (Author), Willy Gan (Author), Denis Babici (Author), Veronica Hagan (Author), Raphael Wald (Author), Marc Swerdloff (Author)
• Format: Book
• Published: MDPI AG, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: 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...