Screening for Niemann-Pick type C disease in neurodegenerative diseases

Sara Boenzi, Andrea Dardis, Paola Russo, Marta Bellofatto, Tiziana Imbriglio, Tommasina Fico, Giuseppe De Michele, Anna De Rosa

Research output: Contribution to journalArticlepeer-review


Niemann Pick type C (NP-C) is an autosomal recessive neurovisceral lysosomal storage disorder caused by NPC1 and NPC2 gene mutations. We screened for NP-C 24 patients with Progressive Supranuclear Palsy and 10 with Multiple System Atrophy cerebellar type (MSA-C). Among PSP patients, no NPC1 or NPC2 gene variants were detected. One patient with MSA-C (10%) resulted to carry a pathogenic missense NPC1 gene mutation (p.C184Y) in heterozygous state. NPC1 genes variants might represent a risk or susceptibility factor in the development of α-synucleinopathies such as MSA. The common pattern of lysosomal dysfunction might explain the pathophysiological link between these disorders.

Original languageEnglish
JournalJournal of Clinical Neuroscience
Publication statusE-pub ahead of print - Jun 17 2019


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