Article
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
Molecular genetics and metabolism - 1 Nov 2023
Cawley Niamh X, Giddens Spencer, Farhat Nicole M, Luke Rachel A, Scott Katelin E J, Mohamed Hibaaq O, Dang Do An, Berry-Kravis Elizabeth, Cologna Stephanie M, Liu Fang, Porter Forbes D
Abstract excerpt
BACKGROUND: Niemann-Pick disease, type C1 (NPC1) is an ultrarare, recessive disorder due to pathological variants of NPC1. The NPC1 phenotype is characterized by progressive cerebellar ataxia and cognitive impairment. Although classically a childhood/adolescent disease, NPC1 is heterogeneous with respect to the age of onset of neurological signs and symptoms. While miglustat has shown to be clinically effective,...
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