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Article

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.

Brain : a journal of neurology - 1 Apr 2007

Mihaylova Violeta, Hantke Janina, Sinigerska Ivanka, Cherninkova Silvia, Raicheva Margarita, Bouwer Sonja, Tincheva Radka, Khuyomdziev Djako, Bertranpetit Jaume, Chandler David, Angelicheva Dora, Kremensky Ivo, Seeman Pavel, Tournev Ivailo, Kalaydjieva Luba

Abstract excerpt

Niemann-Pick disease (NPD), an autosomal recessive disorder resulting from mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is subdivided into the acute, lethal neuronopathic type A, and the chronic visceral type B, explained by the different residual activity levels of acid sphin...

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Identifiers

PMID: 17360762
DOI: 10.1093/brain/awm026

Genes

SMPD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17360762-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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