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

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 may be explained by the enzyme activity of FA2H mutant proteins. Here we report a 10-year-old Japanese boy with FAHN having novel heterozygous mutations in FA2H.

Source: Brain and Development - December 15, 2019 Category: Neurology Authors: Masahiro Kawaguchi, Takayuki Sassa, Hiroyuki Kidokoro, Tomohiko Nakata, Kohji Kato, Hideki Muramatsu, Yusuke Okuno, Hiroyuki Yamamoto, Tadashi Kaname, Akio Kihara, Jun Natsume Tags: Case Report Source Type: research