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Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.

European neurology - 1 Jan 2016

Chamova Teodora, Kirov Andrey, Guergueltcheva Velina, Todorov Tihomir, Bojinova Veneta, Zhelyazkova Sashka, Samuel Jean, Radionova Melania, Sarafov Stayko, Cherninkova Sylvia, Krastev Stefan, Todorova Albena, Tournev Ivailo

Abstract excerpt

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in either the NPC1 (in 95% of cases) or the NPC2 gene. METHODS: In a prospective, observational cohort study, all Bulgarian patients diagnosed with NP-C to date (since 2010) underwent detailed neurological examination and neuro-ophthalmological, neuropsychological and psychiatric...

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Source

Identifiers

PMID: 26910362
DOI: 10.1159/000444480

Genes

NPC1
NPC2

Provenance

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