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Article

Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins.

Journal of neurology - 1 Mar 2015

Benussi Alberto, Alberici Antonella, Premi Enrico, Bertasi Valeria, Cotelli Maria Sofia, Turla Marinella, Dardis Andrea, Zampieri Stefania, Marchina Eleonora, Paghera Barbara, Gallivanone Francesca, Castiglioni Isabella, Padovani Alessandro, Borroni Barbara

Abstract excerpt

We report the case of Niemann-Pick disease type C with extensive phenotypic heterogeneity in two monozygotic twins. One of the twins presented with a history of obsessive-compulsive disorder and slowly progressive inferior limb clumsiness, dysphagia and dysarthria. Neurological examination revealed a broad-based ataxic gait, limb dysmetria, downward vertical gaze palsy, brisk lower limb reflexes and ankle clonus,...

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Source

Identifiers

PMID: 25536905
DOI: 10.1007/s00415-014-7619-x

Genes

NPC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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