General Oral Presentation

[O14] 代謝・神経変性疾患 2

Thu. May 30, 2024 2:20 PM - 3:20 PM Room9 (Bldg.1 3F 133＋134)

Organizer:Tokiko Fukuda(Department of CHild Health and Development, Hamamatsu University School of Medicine),Norio Sakai(Center for Promoting Treatment of Intractable Diseases, ISEIKAI International General Hospital)

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[O14-1] The current situation of expanded newborn screening for spinal muscular atrophy in Nagano prefecture

^○Maki Shirai¹, Mitsuo Motobayashi¹, Saki Ootao¹, Masaru Nasuno¹, Shihoko Takeuchi¹, Yuka Misawa², Shinji Yamada¹, Yuji Inaba¹ (1.Division of Neuropediatrics, Nagano Children's Hospital, Azumino, Japan, 2.Division of Rehabilitation, Nagano Children's Hospital, Azumino, Japan)

[O14-2] Some pit falls in the interpretation of cerebrospinal fluid glycine levels

^○Hiroki Tsuchiya, Hiromi Sumitomo, Atsushi Simasaki, Sayaka Enomoto, Yukako Ohno, Rie Tsukahara, Yukie Tokioka, Satoshi Takenaka, Rie Michiue, Tomoyuki Akiyama, Katsuhiro Kobayashi (Department of Child Neurology, Okayama University Hospital, Okayama, Japan)

[O14-3] Is EEG useful in determining the indication for hematopoietic stem cell transplantation in adrenoleukodystrophy?

^○Kaori Sassa^1,2, Satomi Ohtaki^1,2, Hiromi Teranishi^1,2, Sayaka Ajihara¹, Ikuma Musya¹, Hiroshi Matsumoto^1,2, Makiko Kaga^3,4, Hideo Yamanouchi^1,2 (1.Department of Pediatrics,Saitama Medical University Hospital,Saitama,Japan, 2.Comprehensive Epilepsy Center,Saitama Medical University Hospital,Saitama,Japan, 3.National Center of Neurology and Psychiatry,Tokyo,Japan, 4.Tokyo Metropolitan Tobu Medical(Ryoiku)Center,Tokyo,Japan)

[O14-4] Relationship between compound muscle action potential and motor function in infantile-onset SMA in ENDEAR/SHINE studies

^○Kayoko Saito¹, C. Sumner², B. Youn³, M. Farrar^4,5, B. Tichler⁶, Z. Berger³, C. Zhu³, A. Paradis³ (1.Institute of Medical Genetics, Tokyo Women's Medical University, 2.Johns Hopkins Univ Sch Medicine, Baltimore, USA, 3.Biogen, Cambridge, USA, 4.UNSW Sydney, 5.Sydney Childrens Hosp Network, Sydney, Australia, 6.Biogen, Baar, Switzerland)

[O14-5] Efficacy of combination therapy in a patient with SMA type 0 who acquired the ability to walk with the help of a walker

^○Reiko Arakawa^1,2,3, Mikiko Hasegawa⁴, Kozue Takano^1,2,3, Masao Kaneshige⁵, Katsuyoshi Shimozawa⁶, Hideko Uryu⁷, Shinji Mochizuki⁷, Keiji Goishi⁵, Hiroyuki Shichino⁷, Jyunko Fujitani⁸, Kayoko Saito³ (1.Department of Genomic Medicine, National Center for Global Health and Medicine, Tokyo, Japan, 2.Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, Japan, 3.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 4.Department of Rehabilitation,Dokkyo Medical University Saitama Medical Center, Saitama,Japan, 5.Department of Neonatology, National Center for Global Health and Medicine, Tokyo, Japan, 6.Department of Pediatrics,Nihon university school of Medicine, Tokyo, Japan, 7.Department of Pediatrics, National Center for Global Health and Medicine, Tokyo, Japan, 8.Department of Rehabilitation, National Center for Global Health and Medicine, Tokyo, Japan)

[O14-6] Langerhans Cell Histiocytosis-associated Neurodegeneration (LCH-ND): Clinico-Radiological Correlation.

^○Nobuaki Tsuiki¹, Itaru Hayakawa¹, Yoko Shioda², Yoshiyuki Tsutsumi³, Saeko Irie¹, Tatsuya Takahashi¹, Tsuyoshi Aihara¹, Satoko Fujii¹, Yuichi Abe¹ (1.Division of Neurology, National Center for Child Health and Development, Tokyo, Japan, 2.Division of Oncology, National Center for Child Health and Development, Tokyo, Japan, 3.Department of Radiology, National Center for Child Health and Development, Tokyo, Japan)

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