Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome.

Autor: Nabatame S; Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. Electronic address: nabatames@ped.med.osaka-u.ac.jp., Tanigawa J; Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. Electronic address: tjunnp@ped.med.osaka-u.ac.jp., Tominaga K; Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Department of Child Development, United Graduate School of Child Development, Osaka University, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. Electronic address: yasuhito@ped.med.osaka-u.ac.jp., Kagitani-Shimono K; Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Department of Child Development, United Graduate School of Child Development, Osaka University, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. Electronic address: kuriko@ped.med.osaka-u.ac.jp., Yanagihara K; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, 840 Murodocho, Izumi, Osaka 594-1101, Japan. Electronic address: keikoy@wch.opho.jp., Imai K; Department of Clinical Research, National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi, Shizuoka, Shizuoka 420-8688, Japan. Electronic address: imai.katsumi.vj@mail.hosp.go.jp., Ando T; Department of Pediatric Medicine, Municipal Tsuruga Hospital, 1-6-60, Mishimacho, Tsuruga, Fukui 914-8502, Japan. Electronic address: ts242048@ton21.ne.jp., Tsuyusaki Y; Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami, Yokohama, Kanagawa 232-8555, Japan. Electronic address: y.tsuyu@gmail.com., Araya N; Department of Pediatrics, School of Medicine, Iwate Medical University, 2-1-1 Idaidori, Yahaba, Shiwa, Iwate 028-3695, Japan; Epilepsy Clinic Bethel Satellite Sendai-Station, Comfort Hotel Sendai-Higashiguchi #1F, 205-5 Nakakecho, Miyagino, Sendai, Miyagi 983-0864, Japan. Electronic address: arynami03@gmail.com., Matsufuji M; Department of Pediatrics, Kagoshima City Hospital, 37-1 Uearatacho, Kagoshima, Kagoshima 890-8760, Japan. Electronic address: m.mayumi@leaf.ocn.ne.jp., Natsume J; Department of Developmental Disability Medicine, Nagoya University Graduate School of Medicine, 65 Tsurumaicho, Showa, Nagoya, Aichi 466-8550, Japan. Electronic address: junnatsu@med.nagoya-u.ac.jp., Yuge K; Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahimachi, Kurume, Fukuoka 830-0011, Japan. Electronic address: yugekotaro@med.kurume-u.ac.jp., Bratkovic D; Metabolic Clinic, Women's and Children's Hospital, 72 King William Rd, North Adelaide 5006, SA, Australia. Electronic address: Drago.Bratkovic@sa.gov.au., Arai H; Department of Pediatric Neurology, Bobath Memorial Hospital, 1-6-5 Higashinakahama, Joto, Osaka, Osaka 536-0023, Japan. Electronic address: hrshr@titan.ocn.ne.jp., Okinaga T; Department of Pediatrics, Bell Land General Hospital, 500-3 Higashiyama, Naka, Sakai, Osaka, 599-8247, Japan. Electronic address: t_okinaga@seichokai.or.jp., Matsushige T; Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi 755-8505, Japan. Electronic address: matsu@yamaguchi-u.ac.jp., Azuma Y; Department of Pediatrics, Aichi Medical University, 1-1, Yazakokarimata, Nagakute, Aichi 480-1195, Japan; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa, Yokohama, Kanagawa 236-0004, Japan. Electronic address: ys.azm@outlook.jp., Ishihara N; Department of Pediatrics, Fujita Health University School of Medicine, 1-98 Dengakugakubo, Kutsukakecho, Toyoake, Aichi 470-1192, Japan. Electronic address: naokois@fujita-hu.ac.jp., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa, Yokohama, Kanagawa 236-0004, Japan; Clinical Genetics Department, Yokohama City University Hospital, 3-9 Fukuura, Kanazawa, Yokohama, Kanagawa 236-0004, Japan. Electronic address: miyatake@yokohama-cu.ac.jp., Kato M; Department of Pediatrics, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa, Tokyo 142-8555, Japan. Electronic address: ktmthr@gmail.com., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa, Yokohama, Kanagawa 236-0004, Japan. Electronic address: naomat@yokohama-cu.ac.jp., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, 840 Murodocho, Izumi, Osaka 594-1101, Japan. Electronic address: genetics@wch.opho.jp., Takahashi S; Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-higashi, Asahikawa, Hokkaido 078-8510, Japan. Electronic address: satoru5p@asahikawa-med.ac.jp., Hattori S; Department of Biomedical Statistics, Graduate School of Medicine and Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives (OTRI), Osaka University, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. Electronic address: hattoris@biostat.med.osaka-u.ac.jp., Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. Electronic address: keioz@ped.med.osaka-u.ac.jp.
Jazyk: angličtina
Zdroj: Journal of the neurological sciences [J Neurol Sci] 2023 Apr 15; Vol. 447, pp. 120597. Date of Electronic Publication: 2023 Mar 02.
DOI: 10.1016/j.jns.2023.120597
Abstrakt: Objective: In glucose transporter 1 deficiency syndrome (Glut1DS), cerebrospinal fluid glucose (CSFG) and CSFG to blood glucose ratio (CBGR) show significant differences among groups classified by phenotype or genotype. The purpose of this study was to investigate the association between these biochemical parameters and Glut1DS severity.
Methods: The medical records of 45 patients who visited Osaka University Hospital between March 2004 and December 2021 were retrospectively examined. Neurological status was determined using the developmental quotient (DQ), assessed using the Kyoto Scale of Psychological Development 2001, and the Scale for the Assessment and Rating of Ataxia (SARA). CSF parameters included CSFG, CBGR, and CSF lactate (CSFL).
Results: CSF was collected from 41 patients, and DQ and SARA were assessed in 24 and 27 patients, respectively. Simple regression analysis showed moderate associations between neurological status and biochemical parameters. CSFG resulted in a higher R 2 than CBGR in these analyses. CSF parameters acquired during the first year of life were not comparable to those acquired later. CSFL was measured in 16 patients (DQ and SARA in 11 and 14 patients, respectively). Although simple regression analysis also showed moderate associations between neurological status and CSFG and CSFL, the multiple regression analysis for DQ and SARA resulted in strong associations through the use of a combination of CSFG and CSFL as explanatory variables.
Conclusion: The severity of Glut1DS can be predicted from CSF parameters. Glucose and lactate are independent contributors to the developmental and neurological status in Glut1DS.
Competing Interests: Declaration of Competing Interest Shin Nabatame has received a research grant from Morinaga Houshikai and honoraria for lecture from the Internatinal Symposium on Genetic Role of Neurometabolic Diseases with Infantile Epilepsy (ISGNIE), the 22nd Annual Meeting of the Infantile Seizure Society. Jun Natsume is affiliated with the endowed department from Aichi prefecture (Department of Developmental Disability Medicine). Satoshi Hattori has received consulting fee for statistical advice from Chugai Pharmaceuticals, and honoraria for the BSJ award for outstanding scientific contribution from the Biometric Society of Japan. He also participates in the data safety monitoring board of Shionogi Pharmaceuticals and the scientific advisory committee of the Radiation Effects Research Foundation.
(Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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