Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.

Autor: Sonoda Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Research Center for Environment and Developmental Medical Sciences, Kyushu University, Fukuoka, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Torio M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Mukaino T; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Sakata A; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan., Matsukura M; Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan., Yonemoto K; Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan., Hatae K; Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan., Ichimiya Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Chong PF; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Ochiai M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Research Center for Environment and Developmental Medical Sciences, Kyushu University, Fukuoka, Japan., Wada Y; Department of Obstetric Medicine, Osaka Women's and Children's Hospital, Osaka, Japan; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan., Kadoya M; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan., Okamoto N; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan., Murakami Y; Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Osaka, Japan., Suzuki T; Glycometabolic Biochemistry Laboratory, RIKEN Cluster for Pioneering Research, Saitama, Japan; Takeda-CiRA Joint Program (T-CiRA), Kanagawa, Japan., Isobe N; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Shigeto H; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Division of Medical Technology, Department of Health Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: sakai.yasunari.530@m.kyushu-u.ac.jp., Ohga S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104895. Date of Electronic Publication: 2023 Dec 07.
DOI: 10.1016/j.ejmg.2023.104895
Abstrakt: Introduction: NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have been documented in patients with CDDG1; however, deteriorating phenotypes of affected individuals remain elusive.
Case Presentation: A Japanese boy with delayed psychomotor development showed ataxic movements from age 5 years and myoclonic seizures from age 12 years. Appetite loss, motor and cognitive decline became evident at age 12 years. Electrophysiological studies identified paroxysmal discharges on myoclonic seizure and a giant somatosensory evoked potential. Perampanel was effective for controlling myoclonic seizures. Exome sequencing revealed that the patient carried compound heterozygous variants in NGLY1, NM_018297.4: c.857G > A and c.-17_12del, which were inherited from mother and father, respectively. A literature review confirmed that myoclonic seizures were observed in 28.5% of patients with epilepsy. No other patients had progressive myoclonic epilepsy or cognitive decline in association with loss-of-function variations in NGLY1.
Conclusion: Our data provides evidence that a group of patients with CDDG1 manifest slowly progressive myoclonic epilepsy and cognitive decline during the long-term clinical course.
Competing Interests: Declaration of competing interest The authors declare that there are no conflicts of interest concerning the present study.
(Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)
Databáze: MEDLINE
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