Screening for Niemann-Pick type C disease in neurodegenerative diseases.
Multiple System Atrophy
Niemann Pick-C
Progressive Supranuclear Palsy
Journal
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
ISSN: 1532-2653
Titre abrégé: J Clin Neurosci
Pays: Scotland
ID NLM: 9433352
Informations de publication
Date de publication:
Oct 2019
Oct 2019
Historique:
received:
10
04
2019
accepted:
10
06
2019
pubmed:
22
6
2019
medline:
4
12
2019
entrez:
22
6
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31221578
pii: S0967-5868(19)30732-5
doi: 10.1016/j.jocn.2019.06.025
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
266-267Informations de copyright
Copyright © 2019 Elsevier Ltd. All rights reserved.