Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

• Main Authors: Kiersten Campbell (Author), Niamh X. Cawley (Author), Rachel Luke (Author), Katelin E. J. Scott (Author), Nicholas Johnson (Author), Nicole Y. Farhat (Author), Derek Alexander (Author), Christopher A. Wassif (Author), Wenping Li (Author), Stephanie M. Cologna (Author), Elizabeth Berry-Kravis (Author), An Dang Do (Author), Ryan K. Dale (Author), Forbes D. Porter (Author)
• Format: Book
• Published: BMC, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Niemann-Pick disease, type C1 (NPC1) is an ultrarare, recessive, lethal, lysosomal disease characterized by progressive cerebellar ataxia and cognitive impairment. Although the NPC1 phenotype is heterogeneous with variable age of onset, classical NPC1 is a pediatric disorder. Cur...