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Article

Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.

Clinical neurology and neurosurgery - 1 Jan 2018

Yildiz Edibe Pembegül, Yesil Gözde, Bektas Gonca, Caliskan Mine, Tatlı Burak, Aydinli Nur, Ozmen Meral

Abstract excerpt

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare disorder caused by mutation in the ASAH1 gene, is characterized by progressive muscle weakness and intractable epilepsy. The literature about SMA-PME is very rare and most of the time limited to case reports. Mutation in the ASAH1 gene is also found in another rare syndrome which is Farber disease. We report a case of a 13.5-year-old...

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Source

Identifiers

PMID: 29169047
DOI: 10.1016/j.clineuro.2017.11.008

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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