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

被引：4

作者：

Nabatame, Shin ^{[1
]}

Tanigawa, Junpei ^{[1
]}

Tominaga, Koji ^{[1
,2
]}

Kagitani-Shimono, Kuriko ^{[1
,2
]}

Yanagihara, Keiko ^{[3
]}

Imai, Katsumi ^{[4
]}

Ando, Toru ^{[5
]}

Tsuyusaki, Yu ^{[6
]}

Araya, Nami ^{[7
,8
]}

Matsufuji, Mayumi ^{[9
]}

Natsume, Jun ^{[10
]}

Yuge, Kotaro ^{[11
]}

Bratkovic, Drago ^{[12
]}

Arai, Hiroshi ^{[13
]}

Okinaga, Takeshi ^{[14
]}

Matsushige, Takeshi ^{[15
]}

Azuma, Yoshiteru ^{[16
,17
]}

Ishihara, Naoko ^{[18
]}

Miyatake, Satoko ^{[17
,19
]}

Kato, Mitsuhiro ^{[20
]}

Matsumoto, Naomichi ^{[17
]}

Okamoto, Nobuhiko ^{[21
]}

Takahashi, Satoru ^{[22
]}

Hattori, Satoshi ^{[23
]}

Ozono, Keiichi ^{[1
]}

机构：

[1] Osaka Univ, Dept Pediat, Grad Sch Med, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan

[2] Osaka Univ, United Grad Sch Child Dev, Dept Child Dev, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan

[3] Osaka Womens & Childrens Hosp, Dept Pediat Neurol, 840 Murodocho, Osaka, Izumi 5941101, Japan

[4] NHO Shizuoka Inst Epilepsy & Neurol Disorders, Natl Epilepsy Ctr, Dept Clin Res, 886 Urushiyama, Shizuoka, Shizuoka 4208688, Japan

[5] Municipal Tsuruga Hosp, Dept Pediat Med, 1-6-60 Mishimacho, Tsuruga, Fukui 9148502, Japan

[6] Kanagawa Childrens Med Ctr, Div Neurol, 2-138-4 Mutsukawa, Yokohama, Kanagawa 2328555, Japan

[7] Iwate Med Univ, Sch Med, Dept Pediat, 2-1-1 Idaidori, Yahaba, Iwate 0283695, Japan

[8] Comfort Hotel Sendai Higashiguchi, Epilepsy Clin Bethel Satellite Sendai Stn, 1F,205-5 Nakakecho, Sendai, Miyagi 9830864, Japan

[9] Kagoshima City Hosp, Dept Pediat, 37-1 Uearatacho, Kagoshima, Kagoshima 8908760, Japan

[10] Nagoya Univ, Dept Dev Disabil Med, Grad Sch Med, 65 Tsurumaicho, Nagoya, Aichi 4668550, Japan

[11] Kurume Univ, Dept Pediat & Child Hlth, Sch Med, 67 Asahimachi, Kurume, Fukuoka 8300011, Japan

[12] Metab Clin, Womens & Childrens Hosp, 72 King William Rd, North Adelaide, SA 5006, Australia

[13] Bobath Mem Hosp, Dept Pediat Neurol, 1-6-5 Higashinakahama, Osaka, Osaka 5360023, Japan

[14] Bell Land Gen Hosp, Dept Pediat, 500-3 Higashiyama, Osaka, Sakai 5998247, Japan

[15] Yamaguchi Univ, Dept Pediat, Grad Sch Med, 1-1-1 Minamikogushi, Ube, Yamaguchi 7558505, Japan

[16] Aichi Med Univ, Dept Pediat, 1-1 Yazakokarimata, Nagakute, Aichi 4801195, Japan

[17] Yokohama City Univ, Dept Human Genet, Grad Sch Med, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan

[18] Fujita Hlth Univ, Dept Pediat, Sch Med, 1-98 Dengakugakubo, Toyoake, Aichi 4701192, Japan

[19] Yokohama City Univ Med, Clin Genet Dept, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan

[20] Showa Univ, Dept Pediat, Sch Med, 1-5-8 Hatanodai, Tokyo 1428555, Japan

[21] Osaka Womens & Childrens Hosp, Dept Med Genet, 840 Murodocho, Izumi, Osaka 5941101, Japan

[22] Asahikawa Med Univ, Dept Pediat, 2-1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, Japan

[23] Osaka Univ, Inst Open & Transdisciplinary Res Initiat OTRI, Grad Sch Med, Dept Biomed Stat, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2023年 / 447卷

关键词：

Glucose transporter 1 deficiency syndrome; Cerebrospinal fluid glucose; Cerebrospinal fluid lactate; Regression analysis; GLUT1; DEFICIENCY; BETA-HYDROXYBUTYRATE; GLUCOSE-TRANSPORT; KETOGENIC-DIET; BRAIN; LACTATE; MUTATIONS; SLC2A1; METABOLISM; SPECTRUM;

D O I：

10.1016/j.jns.2023.120597

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 param-eters. CSFG resulted in a higher R2 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 neuro-logical status and CSFG and CSFL, the multiple regression analysis for DQ and SARA resulted in strong associ-ations 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.

引用

页数：13

共 51 条

[1] β-Hydroxybutyrate Boosts Mitochondrial and Neuronal Metabolism but is not Preferred Over Glucose Under Activated Conditions [J].