Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy
Copyright © 2022 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved..
BACKGROUND: Spinal muscular atrophy (SMA) is a rare neuromuscular disorder characterised by muscle weakness and muscle atrophy and classified into five known subtypes based on clinical features. The recent development of novel drugs to treat SMA has been encouraging, and nusinersen is the first drug approved to treat SMA.
OBJECTIVE: To explore cerebrospinal fluid (CSF) biomarkers of SMA and investigate their relationship with symptoms and the treatment response in pediatric patients.
METHODS: We analyzed the CSF levels of chitotriosidase 1 (CHIT1) and inflammatory cytokines (tumor necrosis factor [TNF]-α and interferon [INF]-γ) using enzyme-linked immunosorbent assays in pediatric SMA patients treated at Hiroshima University Hospital over 2 years.
RESULTS: This study analyzed pediatric SMA patients. While the CSF inflammatory cytokines (TNF-α and INF-γ) in these SMA children were unchanged, the CHIT1 levels decreased significantly from year 1 to 2 of treatment. We also found a trend toward an inverse correlation between the motor function score (HINE-2 scores) and CHIT1 level from year 1 to 2 of treatment.
CONCLUSIONS: CHIT1 may be a CSF biomarker of the treatment response in pediatric SMA.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:45 |
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| Enthalten in: |
Brain & development - 45(2023), 1 vom: 07. Jan., Seite 2-7 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Kobayashi, Yoshiyuki [VerfasserIn] |
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| Links: |
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| Themen: |
82115-62-6 |
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| Anmerkungen: |
Date Completed 16.12.2022 Date Revised 21.12.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.braindev.2022.09.008 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM34725506X |
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| 245 | 1 | 0 | |a Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy |
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| 500 | |a Date Completed 16.12.2022 | ||
| 500 | |a Date Revised 21.12.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2022 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. | ||
| 520 | |a BACKGROUND: Spinal muscular atrophy (SMA) is a rare neuromuscular disorder characterised by muscle weakness and muscle atrophy and classified into five known subtypes based on clinical features. The recent development of novel drugs to treat SMA has been encouraging, and nusinersen is the first drug approved to treat SMA | ||
| 520 | |a OBJECTIVE: To explore cerebrospinal fluid (CSF) biomarkers of SMA and investigate their relationship with symptoms and the treatment response in pediatric patients | ||
| 520 | |a METHODS: We analyzed the CSF levels of chitotriosidase 1 (CHIT1) and inflammatory cytokines (tumor necrosis factor [TNF]-α and interferon [INF]-γ) using enzyme-linked immunosorbent assays in pediatric SMA patients treated at Hiroshima University Hospital over 2 years | ||
| 520 | |a RESULTS: This study analyzed pediatric SMA patients. While the CSF inflammatory cytokines (TNF-α and INF-γ) in these SMA children were unchanged, the CHIT1 levels decreased significantly from year 1 to 2 of treatment. We also found a trend toward an inverse correlation between the motor function score (HINE-2 scores) and CHIT1 level from year 1 to 2 of treatment | ||
| 520 | |a CONCLUSIONS: CHIT1 may be a CSF biomarker of the treatment response in pediatric SMA | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Biomarker | |
| 650 | 4 | |a CHIT1 | |
| 650 | 4 | |a Cerebrospinal fluid | |
| 650 | 4 | |a Nusinersen | |
| 650 | 4 | |a Spinal muscular atrophy | |
| 650 | 7 | |a Biomarkers |2 NLM | |
| 650 | 7 | |a Interferon-gamma |2 NLM | |
| 650 | 7 | |a 82115-62-6 |2 NLM | |
| 650 | 7 | |a Cytokines |2 NLM | |
| 700 | 1 | |a Ishikawa, Nobutsune |e verfasserin |4 aut | |
| 700 | 1 | |a Tateishi, Yuichi |e verfasserin |4 aut | |
| 700 | 1 | |a Izumo, Hiroki |e verfasserin |4 aut | |
| 700 | 1 | |a Eto, Syohei |e verfasserin |4 aut | |
| 700 | 1 | |a Eguchi, Yuta |e verfasserin |4 aut | |
| 700 | 1 | |a Okada, Satoshi |e verfasserin |4 aut | |
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