TY - JOUR
T1 - Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome
AU - Nabatame, Shin
AU - Tanigawa, Junpei
AU - Tominaga, Koji
AU - Kagitani-Shimono, Kuriko
AU - Yanagihara, Keiko
AU - Imai, Katsumi
AU - Ando, Toru
AU - Tsuyusaki, Yu
AU - Araya, Nami
AU - Matsufuji, Mayumi
AU - Natsume, Jun
AU - Yuge, Kotaro
AU - Bratkovic, Drago
AU - Arai, Hiroshi
AU - Okinaga, Takeshi
AU - Matsushige, Takeshi
AU - Azuma, Yoshiteru
AU - Ishihara, Naoko
AU - Miyatake, Satoko
AU - Kato, Mitsuhiro
AU - Matsumoto, Naomichi
AU - Okamoto, Nobuhiko
AU - Takahashi, Satoru
AU - Hattori, Satoshi
AU - Ozono, Keiichi
N1 - Publisher Copyright:
© 2023 The Authors
PY - 2023/4/15
Y1 - 2023/4/15
N2 - 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 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 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.
AB - 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 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 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.
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U2 - 10.1016/j.jns.2023.120597
DO - 10.1016/j.jns.2023.120597
M3 - Article
C2 - 36965413
AN - SCOPUS:85150783724
SN - 0022-510X
VL - 447
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
M1 - 120597
ER -