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Article

New Niemann-Pick type C1 gene mutation associated with very severe disease course and marked early cerebellar vermis atrophy.

Journal of child neurology - 1 Dec 2013

Fusco Carlo, Russo Angelo, Galla Daniela, Hladnik Uros, Frattini Daniele, Giustina Elvio Della

Abstract excerpt

Niemann-Pick type C is an autosomal recessive lipid storage disease caused by mutations in the NPC1 or NPC2 gene. In childhood-onset Niemann-Pick type C, the usual course is slowly progressive, with normal cerebral magnetic resonance at onset. Here the authors present the case of a patient carryi...

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Source

Identifiers

PMID: 23112236
DOI: 10.1177/0883073812462765

Genes

NPC1
NPC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23112236-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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