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Article

Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.

Neuromuscular disorders : NMD - 1 Dec 2015

Gan Joanna J, Garcia Virginie, Tian Jane, Tagliati Michele, Parisi Joseph E, Chung Jeffrey M, Lewis Richard, Baloh Robert, Levade Thierry, Pierson Tyler Mark

Abstract excerpt

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is an extremely rare disorder related to the lysosomal storage disease, Farber lipogranulomatosis. Both disorders are autosomal recessive conditions caused by mutations in the ASAH1 gene encoding acid ceramidase. Farber disease is associated with joint deformities, lipomatous skin nodules, and often is fatal by 2-3 years of age; while SMA-PME...

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Source

Identifiers

PMID: 26526000
DOI: 10.1016/j.nmd.2015.09.007

Genes

ASAH1

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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