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Article

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

European journal of human genetics : EJHG - 1 Nov 2016

Filosto Massimiliano, Aureli Massimo, Castellotti Barbara, Rinaldi Fabrizio, Schiumarini Domitilla, Valsecchi Manuela, Lualdi Susanna, Mazzotti Raffaella, Pensato Viviana, Rota Silvia, Gellera Cinzia, Filocamo Mirella, Padovani Alessandro

Abstract excerpt

ASAH1 gene encodes for acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes. ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (SMA-PME), phenotypically characterized by childhood onset of proximal muscle weakness and atrophy due to spinal motor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27026573
DOI: 10.1038/ejhg.2016.28
PMCID: PMC5110045

Genes

ASAH1

Variants

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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