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NPC1 variants are not associated with Parkinson's disease, REM-sleep behaviour disorder or Dementia with Lewy bodies in European cohorts.

2022-11-08 genetic and genomic medicine Title + abstract only
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NPC1 encodes a lysosomal protein involved in cholesterol transport. Biallelic mutations in this gene may lead to Nieman-Pick disease type C, a lysosomal storage disorder. The role of NPC1 in alpha synucleinopathies is still unclear, as different genetic, clinical, and pathological studies have reported contradictory results. This study aimed to evaluate the association of NPC1 variants with the synucleinopathies Parkinsons disease (PD), dementia with Lewy bodies (DLB), and rapid eye movement (RE...

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