FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

doi:10.1093/brain/awz102

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Article

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Brain : a journal of neurology - 1 Jun 2019

Rattay Tim W, Lindig Tobias, Baets Jonathan, Smets Katrien, Deconinck Tine, Söhn Anne S, Hörtnagel Konstanze, Eckstein Kathrin N, Wiethoff Sarah, Reichbauer Jennifer, Döbler-Neumann Marion, Krägeloh-Mann Ingeborg, Auer-Grumbach Michaela, Plecko Barbara, Münchau Alexander, Wilken Bernd, Janauschek Marc, Giese Anne-Katrin, De Bleecker Jan L, Ortibus Els, Debyser Martine, Lopez de Munain Adolfo, Pujol Aurora, Bassi Maria Teresa, D'Angelo Maria Grazia, De Jonghe Peter, Züchner Stephan, Bauer Peter, Schöls Ludger, Schüle Rebecca

Abstract excerpt

The endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FA2H deficiency in mice leads to severe central demyelination and axon loss. In humans it has been associated with phenotypes from the neurodegeneration with brain iron accumulation (fatty acid hydroxylase-associated neurodegeneration, FAHN), hereditary...

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PMID: 31135052
DOI: 10.1093/brain/awz102
PMCID: PMC6536916

Genes

FA2H

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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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