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Article

The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2023

Hashemi Narges, Abadi Reza Nejad Shahrokh, Alavi Afagh, Rohani Mohammad, Ghasemi Aida, Tavasoli Ali Reza

Abstract excerpt

BACKGROUND: NBIA (neurodegeneration with brain iron accumulation) is a diverse collection of neurodegenerative illnesses defined by iron accumulation in the basal ganglia. The fatty acid hydroxylase-associated neurodegeneration, or FAHN, is one of the uncommon subtypes of NBIAs, associated with inherited autosomal recessive mutations in gene coding the membrane-bound fatty acid 2 hydroxylase (FA2H) enzyme. CASES:...

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PMID: 37410270
DOI: 10.1007/s10072-023-06932-4

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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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