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Article

Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2014

Masri Amira, Liao Jun, Kornreich Ruth, Haghighi Alireza

Abstract excerpt

Sandhoff disease is a rare, genetic, lipid storage disorder characterized by progressive degeneration of the nerve cells (neurons) in the brain and spinal cord. This disease is caused by mutations in the beta-hexosaminidase beta-subunit (HEXB) gene. Here, we investigated the clinical characteristics and molecular basis of Sandhoff disease in an infant female patient from Jordan. The initial sign was nystagmus,...

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Source

Identifiers

PMID: 24613245
DOI: 10.1016/j.ejpn.2014.02.002

Genes

HEXB

Provenance

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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