Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C

• Main Authors: Nazgol Motamed-Gorji (Author), Youssef Khalil (Author), Cristina Gonzalez-Robles (Author), Shamsher Khan (Author), Philippa Mills (Author), Hector Garcia-Moreno (Author), Heather Ging (Author), Ambreen Tariq (Author), Peter T. Clayton (Author), Paola Giunti (Author)
• Format: Book
• Published: MDPI AG, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Ataxia is a common neurological feature of Niemann-Pick disease type C (NPC). In this disease, unesterified cholesterol accumulates in lysosomes of the central nervous system and hepatic cells. Oxidation by reactive oxygen species produces oxysterols that can be metabolised to specific bile acids. T...