A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant-Reference-Cited by-同舟云学术

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

Published:2021-11 Issue:10 Volume:43 Page:1029-1032
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

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

Funder

Takeda Science Foundation

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Ministry of Health, Labour and Welfare

National Center of Neurology and Psychiatry

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis);O'Dowd;J Biol Chem,1986

2. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients;Sekiguchi;J Hum Genet,2019

3. The GM2 gangliosidosis;Gravel,2001

4. Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype;Yoshizawa;J Neurol Sci,2002

5. New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype;Delnooz;J Neurol Neurosurg Psychiatry,2010

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1. Clinical and genetic features of a case with juvenile onset sandhoff disease;BMC Neurology;2023-06-21