2019 Fiscal Year Final Research Report
Manitesfation of clinical features and pathological analysis of Hyperekplexia in Japan
| Project/Area Number |
16K19645
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Shimane University |
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Principal Investigator |
Mine Jun 島根大学, 医学部, 特別協力研究員 (80565234)
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| Project Period (FY) |
2016-04-01 – 2020-03-31
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| Keywords | 驚愕病 |
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| Outline of Final Research Achievements |
1) Clinical features of Japanese Hyperekplexia, investigation of natural history, and cleated of clinical guidelines: A survey was conducted at 1394 facilities of medical institutions nationwide, of which 25 facilities had experience of cases. 17 cases were in the pediatric area and 4 cases were in the adult area. The clinical manifestation was analyzed with the result of 2). Next, we cleated diagnostic criteria draft. After completing its public comment procedures, we confirmed guideline. 2) Analysis of gene abnormalities related to glycinergic neurotransmission system: 39 cases were analyzed between 2016 and 2019, 13 cases had GLRA1 mutation and one case had SLC6A5 mutation.
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| Free Research Field |
小児神経
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| Academic Significance and Societal Importance of the Research Achievements |
驚愕病は、新生児期より、予期できない刺激に対して全身を過剰に硬直させるなどの過度の驚愕反応と筋硬直を呈し、適切な治療や指導を行わなければ、過度な驚愕反応による呼吸停止や転倒により事故につながることもある疾患である。本邦において認知度は低く、てんかんや筋疾患、不安障害などと誤って診断され、不必要な治療が行われていることも少なくない。本研究では、日本人の驚愕症の臨床像、自然歴の調査、グリシン作動性神経伝達系に関連する遺伝子異常の解析を行い、その結果を基に診療ガイドラインを作成した。この結果、驚愕病の患者さんが適切な診療を受けることが可能となり、医療の均てん化に貢献できるものと考える。
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