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Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).

Genes - 20 Dec 2023

German Alexander, Jukic Jelena, Laner Andreas, Arnold Philipp, Socher Eileen, Mennecke Angelika, Schmidt Manuel A, Winkler Jürgen, Abicht Angela, Regensburger Martin

Abstract excerpt

Fatty acid hydroxylase-associated neurodegeneration (FAHN/SPG35) is caused by pathogenic variants in FA2H and has been linked to a continuum of specific motor and non-motor neurological symptoms, leading to progressive disability. As an ultra-rare disease, its mutational spectrum has not been fully elucidated. Here, we present the prototypical workup of a novel FA2H variant, including clinical and in silico...

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Identifiers

PMID: 38275596
DOI: 10.3390/genes15010014
PMCID: PMC10815826

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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