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Article

A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant.

Brain & development - 1 Nov 2021

Shibuya Moriei, Uneoka Saki, Onuma Akira, Kodama Kaori, Endo Wakaba, Okubo Yukimune, Inui Takehiko, Togashi Noriko, Nakashima Ichiro, Hino-Fukuyo Naomi, Ida Hiroyuki, Miyatake Satoko, Matsumoto Naomichi, Haginoya Kazuhiro

Abstract excerpt

BACKGROUND: The clinical severity of Sandhoff disease is known to vary widely. Furthermore, long-term follow-up report is very limited in the literature. CASE PRESENTATION: We present a long-term follow-up report of a patient with juvenile-onset Sandhoff disease with a motor neuron disease phenotype. The patient had compound heterozygous variants of HEXB (p.Trp460Arg, p. Arg533His); the Trp460Arg was a novel...

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PMID: 34217565
DOI: 10.1016/j.braindev.2021.06.007

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