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

著者 Schneider SA , Tahirovic S , Hardy J , Strupp M , Bremova-Ertl T
J Neurol.2019 Nov 07 ; ():.
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Monogenic diseases are important models for the study of neurodegenerative diseases, such as Parkinson's disease (PD) and dementia. Notably, for some disorders, homozygosity is associated with a complex metabolic disease, while heterozygosity predisposes to late-onset neurodegeneration. For instance, biallelic glucocerebrosidase gene mutations cause Gaucher's disease, while heterozygous mutations are a common genetic risk factor for late-onset PD. Little is known about similar risks of related diseases, such as Niemann-Pick type C (NPC). Given that both conditions map into related, i.e., lysosomal, pathways, we hypothesize a similar risk of single-NPC gene mutations. Indeed, there is increasing evidence based on clinical observations in humans and animal studies. Here we review the current knowledge of NPC heterozygosity.
PMID: 31701332 [PubMed - as supplied by publisher]
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