Nationality: Japanese

Education

Tokyo Women’s Medical University

 Graduation: March 1998

Doctoral course (Postgraduate research course) at Tokyo Women’s Medical University

 Graduation: March, 2002

 PhD in Pediatrics: Genetic analysis of patients with congenital myasthenic syndrome

 

Extracurricular Activities:

(1)Studied Medical Education at Columbia University, New York and Case Western Reserve University, Cleveland, USA with sponsorship from the Ministry of Education, Culture, Sports, Science and Technology, Japan, March 2006

(2) Studied Neuromuscular disorders at the Dubowitz Neuromuscular Center, UCL, London, January-May 2010

(3) Clinical trial for patients with Duchenne muscular dystrophy at the Institut de Myologie, Universite Paris VI, Groupe Hospitalier Pitie-Salpetriere, Paris, France, June-October 2010

 

Work Experience:

Resident, Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan, 1998-2002

Research associate (Post-doctoral position), INSERM 523, Institut de Myologie, Universite Paris VI, Groupe Hospitalier Pitie-Salpetriere, Paris, France, 2000-2001

Assistant Professor: Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan, 2002-2010

Senior Lecturer: Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan, 2011-2018

Associate Professor: Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan, 2019 to the present

 

Qualifications:

National Board of Medical Examiners of Japan, certified May, 1998

Specialist in Pediatrics, certified October, 2002

PALS Provider, certified March, 2004

Specialist in Pediatric Neurology, certified October 2009

Board Certified Trainer of the Japan Pediatric Society, certified March 2016

 

Committee Service

Board Meeting of the Japanese Society of Child Neurology，2018-

 

Guideline decision committee of Myasthenia Gravis (Japanese Society of Neurology),2012

Guideline decision committee of Duchenne muscular dystrophy (Japanese Society of Neurology),2012

Guideline decision committee of Myasthenia Gravis/ Lambert-Eaton syndrome (Japanese Society of Neurology),2018

Guideline decision committee of Myotonic dystrophy (Japanese Society of Neurology),2018

 

Awards

(1) The Tokyo Women’s Medical University Association prize for an article entitled “Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency”, 2006

(2) The Yoshioka Yayoi Scientific Incentive Prize for an article entitled “Treatment approach to congenital myasthenic syndrome in a patient with acetylcholine receptor deficiency” ,2007

(3) The Young investigator award at the 3rd International Symposium on Lysosomal Storage Diseases, 2009

(4) The poster award (Basic science) for an article entitled “High-density of skeletal muscle CT imaging indicates accumulation of calcium in autophagic vacuoles in childhood-onset Pompe disease”, Step Forward in Pompe disease, 4^th European symposium, 2010

(5) The poster award for an article entitled “Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients ”, 58^th Annual meeting of the Japanese Society of Child Neurology, 2016

(6) SHISEIKAI Scientific Award for a project “Inhibition of Prostanoid as a potential therapy for Fukuyama congenital muscular dystrophy”, 2019

 

 

Publications:

(1) Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.  

Ishigaki K, Nicolle D, Krejci E, Leroy JP, Koenig J, Fardeau M, Eymard B, Hantaï D. Neuromuscul Disord. 2003 Mar;13 (3):236-44.

(2) TRH therapy in a patient with juvenile Alexander disease.

Ishigaki K, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M. Brain Dev. 2006 Nov;28 (10):663-7.

(3) Beta-blocker therapy for cardiac dysfunction in patients with muscular dystrophy. 

Kajimoto H, Ishigaki K, Okumura K, Tomimatsu H, Nakazawa M, Saito K, Osawa M, Nakanishi T.Circ J. 2006 Aug;70 (8):991-4.

(4) Benefits of FK 506 for refractory eye symptoms in a young child with ocular myasthenia gravis.

Ishigaki K, Shishikura K, Murakami T, Suzuki H, Hirayama Y, Osawa M.

Brain Dev. 2009 Sep; 31 (8):634-7.

(5) Treatment approach to congenital myasthenic syndrome in a patient with acetylcholine receptor deficiency

Ishigaki K, Murakami T, Ito Y, Yanagisawa A, Kodaira K, Shishikura K, Suzuki H, Hirayama Y, Osawa M.

No To Hattatsu. 2009 Jan;41(1):37-42, in Japanese [with English abstract]

(6) Enzyme replacement therapy in patients with childhood-onset Pompe disease (Glycogen storage disease type II)

Ishigaki K, Osawa M

Shinkeinaika. 2009 May; 70(5): 467-469, in Japanese

(7) Diagnosis of childhood-onset Pompe disease (Glycogen storage disease type II)

Osawa M, Ishigaki K

Shinkeinaika. 2009 May; 70(5): 448-452, in Japanese

(8) Steroid therapy in patients with Myasthenia gravis: Review

Ishigaki K, Hirano Y

Shouninaika. 2009 May; 41(5): 765-767, in Japanese

(9) Congenital myasthenic syndrome: Review-Progress of Clinical genetics in pediatric fields

Ishigaki K, Osawa M

Shounika. 2009 Jun; 50 (7): 1053-1058, in Japanese

(10) Congenital muscular dystrophy: Review-Updates of diagnosis and therapy for myopathy-

Ishigaki K, Osawa M

Shounika-Rinsho. 2010 Sep; 63(9): 1879-1889, in Japanese [with English abstract]

(11) High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation

Ishigaki K, Mitsuhashi S, Kuwatsuru R, Murakami T, Shishikura K, Suzuki H, Hirayama Y, Nonaka I, Osawa M

Acta Neuropathol. 2010 Oct; 120(4): 537-543

(12) Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disaease

Ishigaki K, Murakami T, Nakanishi T, Oda E, Sato T, Osawa M.

Brain Dev. 2012 ;34(2):98-102

(13) High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease

Ishigaki K, Yoshikawa Y, Kuwatsuru R, Oda E, Murakami T, Sato T, Saito T, Umezu R, Osawa M.

Brain Dev. 2012 ;34(2):103-6. Epub 2011 Jun 24.

(14) Clinical features and care of congenital and childhood-onset myotonic dystrophy

Ishigaki K, Muto A, Osawa M

Rinsho-shinkeigaku 2012; 52(11): 1264-1266

(15) Respiratory management in patients with neuromuscular disorders

Ishigaki K, Karaki K, Osawa M

Shounika. 2013 ;54(2): 213-222 in Japanese

(16) Long-term and low-dose steroid therapy for cardiomyopathy in Duchenne　muscular dystrophy patients

Ishigaki K, Kato I, Murakami T, Saito T, Sato T, Kajino S, Nakanishi T, Osawa M

J Tokyo Wom Med Univ. 2013; 83 Extra: 14-19

(17) Identification of a duplication breakpoint in the DMD gene using array comparative genomic hybridization

Saito T, Ishigaki K, Murakami T, Sato T, Kajino S, Takeda S, Osawa M

J Tokyo Wom Med Univ. 2013; 83 Extra: 20-24

(18) Insomnia in patients with Fukuyama congenital muscular dystrophy

Sato T, Ishigaki K, Kajino S, Sato T, Murakami T, Kato I, Funatsuka M, Saito K, Osawa M

J Tokyo Wom Med Univ. 2013; 83 Extra: 42-46

(19) Different Responses to Enzyme Replacement Therapy in Two Patients with Childhood-onset Pompe Disease

Oda E, Ishigaki K, Saito T, Murakami T, Sato T, Kajino S, Yoshikawa Y, Osawa M

J Tokyo Wom Med Univ. 2013; 83 Extra: 275-279

(20) Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy.

Murakami T, Ishigaki K, Shirakawa S, Ikenaka H, Sakauchi M, Osawa M.

Brain Dev. 2012 Apr;34(4):293-7.

(21) Pre-evening meal administration of tacrolimus improved refractory ocular symptoms in two young children with latent general myasthenia gravis.

Yoshikawa Y, Ishigaki K, Shishikura K, Hirasawa K, Sato T, Suzuki H, Hirayama Y, Osawa M.

No To Hattatsu. 2013 Jul;45(4):318-22.

(22) A case of spinal muscular atrophy type 0 in Japan

Okamoto K, Saito K, Sato T, Ishigaki K, Funatsuka M, Osawa M.

No To Hattatsu. 2012 Sep;44(5):387-91.

(23) Environmental maintenance for home care patients with Duchenne muscular dystrophy

Ishigaki K

Shinkeinaika 2013 79(2): 178-183

(24) Congenital fiber type disproportion myopathy caused by LMNA mutations.

Kajino S, Ishihara K, Goto K, Ishigaki K, Noguchi S, Nonaka I, Osawa M, Nishino I, Hayashi YK.

J Neurol Sci. 2014 May 15;340(1-2):94-8.

(25) Juvenile myasthenia gravis-standard treatment-

Ishigaki K

Clinical Neuroscience．2014 32(9) :1002-1005

(26) Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.

Azuma Y, Nakata T, Tanaka M, Shen XM, Ito M, Iwata S, Okuno T, Nomura Y, Ando N, Ishigaki K, Ohkawara B, Masuda A, Natsume J, Kojima S, Sokabe M, Ohno K.

Neuromuscul Disord. 2015 Jan;25(1):60-9.

(27)   Respiratory management of patients with Fukuyama congenital muscular dystrophy.

Sato T, Murakami T, Ishiguro K, Shichiji M, Saito K, Osawa M, Nagata S, Ishigaki K.

Brain Dev. 2016 Mar;38(3):324-30.

(28)  [Clinical characteristics and managements of juvenile myasthenia gravis].

Ishigaki K.

Nihon Rinsho. 2015 Sep;73 Suppl 7:533-8. Japanese.

(29)  [Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy].

Ishigaki K.

Brain Nerve. 2016 Feb;68(2):119-27.

(30)  The gross motor function measure is valid for Fukuyama congenital muscular dystrophy.

Sato T, Adachi M, Nakamura K, Zushi M, Goto K, Murakami T, Ishiguro K, Shichiji M, Saito K, Ikai T, Osawa M, Kondo I, Nagata S, Ishigaki K.

Neuromuscul Disord. 2017 Jan;27(1):45-49

(31)  [The pitfalls of using diagnosis and treatment guidelines for patients with juvenile myasthenia gravis].

   Ishigaki K.

   No To Hattatsu. 2017 Mar;49(2):87-93. Japanese.

(32)  Renal dysfunction is rare in Fukuyama congenital muscular dystrophy.

   Ishigaki K, Kato I, Murakami T, Sato T, Shichiji M, Ishiguro K, Ishizuka K,    Funatsuka M, Saito K, Osawa M, Nagata S.

   Brain Dev. 2018 Aug 1. pii: S0387-7604(18)30343-7.

(33)  Characteristic findings of skeletal muscle MRI in caveolinopathies.

    Ishiguro K, Nakayama T, Yoshioka M, Murakami T, Kajino S, Shichiji M, Sato T, Hino-Fukuyo N, Kuru S, Osawa M, Nagata S, Okubo M, Murakami N, Hayashi YK, Nishino I, Ishigaki K.

    Neuromuscul Disord. 2018 Oct;28(10):857-862.

(34)  National registry of patients with Fukuyama congenital muscular dystrophy in Japan.

    Ishigaki K, Ihara C, Nakamura H, Mori-Yoshimura M, Maruo K, Taniguchi-Ikeda M, Kimura E, Murakami T, Sato T, Toda T, Kaiya H, Osawa M.

    Neuromuscul Disord. 2018 Oct;28(10):885-893.

(35)  Assessment of muscle involvement in patients with Duchenne muscular dystrophy via segmental multifrequency bioelectrical analysis.

Kuru S, Uchiyama T, Hattori A, Sato T, Murakami T, Ishigaki K, Nakayama T.

Neuromuscul Disord. 2019 Sep;29(9):671-677.

(36)  [Study of care practices for patients with myotonic dystrophy in Japan-Nationwide patient survey].

Takahashi MP, Yamamoto R, Kubota T, Matsuura T, Ishigaki K, Sunada Y, Komaki H, Takada H, Kuru S, Matsumura T.

Rinsho Shinkeigaku. 2020 Feb 27;60(2):130-136.Japanese

(37)  [Study of medical practices for patients with myotonic dystrophy in Japan-Nationwide specialist survey].

Matsumura T, Takada H, Ishigaki K, Komaki H, Takahashi MP.

Rinsho Shinkeigaku. 2020 Feb 27;60(2):120-129.Japanese

(38)  Early phase 2 trial of TAS-205 in patients with Duchenne muscular dystrophy.

Komaki H, Maegaki Y, Matsumura T, Shiraishi K, Awano H, Nakamura A, Kinoshita S, Ogata K, Ishigaki K, Saitoh S, Funato M, Kuru S, Nakayama T, Iwata Y, Yajima H, Takeda S.Ann Clin Transl Neurol. 2020 Feb;7(2):181-190.

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(39) A short form of gross motor function measure for Fukuyama congenital muscular dystrophy.

    Sato T, Adachi M, Matsuo A, Zushi M, Goto K, Hirose M, Ishiguro K, Shichiji M, Murakami T, Ikai T, Osawa M, Kondo I, Nagata S, Ishigaki K

Brain Dev. 2020 May;42(5):383-388

(40) Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study).

Yamauchi M, Nakayama H, Shiota S, Ohshima Y, Terada J, Nishijima T, Kosuga M, Kitamura T, Tachibana N, Oguri T, Shirahama R, Aoki Y, Ishigaki K, Sugie K, Yagi T, Muraki H, Fujita Y, Takatani T, Muro S. Sleep Breath. 2021 Jun;25(2):695-704. 

(41) Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. 

Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N, Matsumoto N. 

J Hum Genet. 2021 Apr;66(4):401-407.

(42) Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy.

Takeshita S, Saito Y, Oyama Y, Watanabe Y, Ikeda A, Iai M, Sato T, Ishigaki K, Ito SI.

Brain Dev. 2021 Mar;43(3):440-447

(43) Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy.

Sato T, Awano H, Ishiguro K, Shichiji M, Murakami T, Shirakawa T, Matsuo M, Nagata S, Ishigaki K.

Neuromuscul Disord. 2021 Mar;31(3):194-197