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Article

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.

Journal of neurology - 1 Jan 2014

Anheim Mathieu, Lagha-Boukbiza Ouhaïd, Fleury-Lesaunier Marie-Céline, Valenti-Hirsch Maria-Paola, Hirsch Edouard, Gervais-Bernard Hélène, Broussolle Emmanuel, Thobois Stéphane, Vanier Marie T, Latour Philippe, Tranchant Christine

Abstract excerpt

Niemann-Pick type C disease (NPC) is a recessive neurolipidosis. We report five adolescent and adult NPC cases to underscore the frequency and heterogeneity of movement disorders in NPC. Clinical, morphologic, biochemical and genetic study was performed in the five patients. Disease onset was between 8 and 50 years. Movement disorders were present in all cases, were heterogeneous and often combined [cerebellar...

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Source

Identifiers

PMID: 24178705
DOI: 10.1007/s00415-013-7159-9

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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