Do heterozygous mutations of Niemann –Pick type C predispose to late-onset neurodegeneration: a review of the literature

Discussion/conclusionThis finding has wider implications in so far as NPC-related forms of Parkinsonian syndromes, dementia, motor neuron disease and other neurodegenerative disorders may benefit from NPC-mechanistic therapies, in particular related to lysosomal dysfunction. Further research is warranted to generate systematic data of heterozygous mutation carriers, including longitudinal data.
Source: Journal of Neurology - Category: Neurology Source Type: research