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Article

Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration.

Brain & development - 1 Feb 2020

Kawaguchi Masahiro, Sassa Takayuki, Kidokoro Hiroyuki, Nakata Tomohiko, Kato Kohji, Muramatsu Hideki, Okuno Yusuke, Yamamoto Hiroyuki, Kaname Tadashi, Kihara Akio, Natsume Jun

Abstract excerpt

FA2H encodes fatty acid 2-hydroxylase, which plays a significant role in maintaining the neuronal myelin sheath. Previous reports have revealed that a FA2H mutation leads to spastic paraplegia, leukodystrophy, and neurodegeneration with brain iron accumulation, collectively referred to as fatty acid hydroxylase-associated neurodegeneration (FAHN). The disease severity of FAHN varies among individual patients and...

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PMID: 31837835
DOI: 10.1016/j.braindev.2019.11.006

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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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