Faculty Profiles - TAKASHIMA Hiroshi

Papers - TAKASHIMA Hiroshi

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Shohei Beppu 1, Kensuke Ikenaka 1, Taiki Yabumoto 1, Kenichi Todo, Akihiro Hashiguchi, Hiroshi Takashima, Hideki Mochizuki . A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant . clinicalneurol.62 ( 3 ) 205 - 210 2022.5A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant

Yujiro Higuchi, Hiroshi Takashima . Clinical genetics of Charcot-Marie-Tooth disease . J Hum Genet 2022.5Clinical genetics of Charcot-Marie-Tooth disease

Yu Hiramatsu, Yuji Okamoto, Akiko Yoshimura, Jun-Hui Yuan, Masahiro Ando, Yujiro Higuchi, Akihiro Hashiguchi, Eiji Matsuura, Fumihito Nozaki, Tomohiro Kumada, Kei Murayama, Mikiya Suzuki, Yuki Yamamoto, Naoko Matsui, Yoshimichi Miyazaki, Masamitsu Yamaguchi, Youji Suzuki, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji, Hiroshi Takashima . Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes . Journal of Neurology- ( 8 ) 4129 - 4140 2022.5Reviewed International journal

Language：Japanese Publishing type：Research paper (scientific journal)

Mitochondrial disorders are a group of clinically and genetically heterogeneous multisystem disorders and peripheral neuropathy is frequently described in the context of mutations in mitochondrial-related nuclear genes. This study aimed to identify the causative mutations in mitochondrial-related nuclear genes in suspected hereditary peripheral neuropathy patients. We enrolled a large Japanese cohort of clinically suspected hereditary peripheral neuropathy patients who were mutation negative in the prescreening of the known Charcot-Marie-Tooth disease-causing genes. We performed whole-exome sequencing on 247 patients with autosomal recessive or sporadic inheritance for further analysis of 167 mitochondrial-related nuclear genes. We detected novel bi-allelic likely pathogenic/pathogenic variants in four patients, from four mitochondrial-related nuclear genes: pyruvate dehydrogenase beta-polypeptide (PDHB), mitochondrial poly(A) polymerase (MTPAP), hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase, beta subunit (HADHB), and succinate-CoA ligase ADP-forming beta subunit (SUCLA2). All these patients showed sensory and motor axonal polyneuropathy, combined with central nervous system or multisystem involvements. The pathological analysis of skeletal muscles revealed mild neurogenic changes without significant mitochondrial abnormalities. Targeted screening of mitochondria-related nuclear genes should be considered for patients with complex hereditary axonal polyneuropathy, accompanied by central nervous system dysfunctions, or with unexplainable multisystem disorders.

DOI： 10.1007/s00415-022-11026-w

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Masahiro Ando, Yujiro Higuchi, Mika Takeuchi, Akihiro Hashiguchi, Hiroshi Takashima . The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan . Neurol Sci .43 ( 3 ) 2133 - 2136 2022.5The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan

Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Ruriko Kitao, Takehiko Morimoto, Takaki Taniguchi, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima . Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan . Ann Clin Transl Neurol9 ( 5 ) 747 - 755 2022.5Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan

Maruta K, Nobuhara Y, Ijiri Y, Kojima F, Takashima H . Right optic perineuritis and myelitis 6 years following left optic perineuritis in anti-myelin oligodendrocyte glycoprotein-associated disorder: a case report. . Clinical neurology62 ( 4 ) 286 - 292 2022.4

Language：Japanese Publisher：Societas Neurologica Japonica

We report a patient with myelin oligodendrocyte glycoprotein (MOG) antibody positivity who manifested myelitis with right optic perineuritis (OPN) 6 years following left OPN. A 45-year-old man treated 6 years previously for left OPN developed ascending numbness in both legs, urinary dysfunctions, and constipation. Neurologic examination disclosed bilateral hypesthesia extending downward over the chest from the T8 level. No motor weakness was evident. Visual field testing showed dense peripheral constriction with intact central vision on the right and a smaller superior scotoma on the left. Visual acuity and funduscopic findings were normal. Results of routine serologic investigations and autoimmune antibody titers, including those of anti-aquaporin 4 antibody, were within normal limits, except that both serum and cerebrospinal fluid were positive for anti-MOG antibody. MRI displayed a longitudinal cord lesion extending from T2 to T9, as well as optic nerve sheath enhancement characteristic of OPN. The patient was diagnosed with myelitis in addition to OPN, both resulting from MOG antibody-associated demyelination. Patients with myelitis, require careful assessment of visual acuity and visual fields to detect possible accompanying OPN and ON. We suspect that OPN in some other patients may likewise be caused by anti-MOG antibody.

DOI： 10.5692/clinicalneurol.cn-001705

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Yujiro Higuchi, Hiroshi Takashima . Clinical genetics of Charcot–Marie–Tooth disease . J Hum Genet. 2022.3

Tashiro Y, Matsuura E, Sagara Y, Nozuma S, Kodama D, Tanaka M, Koriyama C, Kubota R, Takashima H . High Prevalence of HTLV-1 Carriers Among the Elderly Population in Kagoshima, a Highly Endemic Area in Japan. . AIDS research and human retroviruses38 ( 5 ) 363 - 369 2022.2Reviewed International journal

Authorship：Last author Language：English Publisher：AIDS Research and Human Retroviruses

Japan is one of the world's highly endemic areas for human T cell leukemia virus type 1 (HTLV-1), and it is known that the infection rate of HTLV-1 increases with age. The infection rate among the elderly has been estimated based on data from blood donors under the age of 65, and the actual number and rate of infection among the elderly are unknown. Data of 26,090 preoperative HTLV-1 screening tests conducted at Kagoshima University Hospital from 2001 to 2020, including 2726 HTLV-1-positive patients, were used for calculating the decadal infection rates for the year of birth. Estimated infection rates by birth year and demographic tables were used to estimate the current number of infected people in Kagoshima. The estimated total numbers of people infected with HTLV-1 in Kagoshima prefecture were 139,436 in 2005 and 80,975 in 2019. The infection rate increased with age for both men and women, reaching 17.3% for women born before the 1920s. Next, we tried to clarify whether the increase in infection rates with age was due to post-school age infections. The age of birth with the greatest increase in infection rate after 10 years was women born in the 1970s, and the increase in infection rate was only 0.98%, which is not a statistically significant increase. The number of infected people in Kagoshima was >80,000 in 2019. No data were available in this study to point to the involvement of horizontal transmission after school age in the high infection rate among the elderly. The high infection rate among the elderly is thought to have been high even when they were infants.

DOI： 10.1089/AID.2021.0164

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Masahiro Ando, Yujiro Higuchi, Yuji Okamoto, Junhui Yuan, Akiko Yoshimura, Jun Takei, Takaki Taniguchi, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Hiroto Nakagawa, Ken Sonoda, Toru Yamashita, Akiko Tamura, Hideo Terasawa, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima . An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families . Journal of human genetics67 ( 7 ) 399 - 403 2022.1Reviewed International journal

Authorship：Last author Language：English Publishing type：Research paper (scientific journal)

BACKGROUND AND AIMS: Mutations in neurofilament genes have been linked to several neuromuscular disorders. The neurofilament heavy (NEFH) gene was identified as the causative gene of Charcot-Marie-Tooth disease type 2CC (CMT2CC) in 2016, with a toxic gain of function mechanism caused by the translation and aggregation of cryptic amyloidogenic element (CAE) in the 3' untranslated region (UTR). But the NEFH-related clinical and genetic spectrums are still unclear in Japan. METHODS: We analyzed all variants in the NEFH gene from our in-house whole-exome sequencing data, established from Japanese nationwide patients with neuromuscular disorders, including Charcot-Marie-Tooth (CMT) disease and spinal muscular atrophy (SMA). RESULTS: We identified a c.3017dup (p.Pro1007Alafs*56) variant in NEFH from three families clinically diagnosed with CMT, and one family with SMA. In addition to the patients presented with typical peripheral neuropathies, pyramidal signs were observed from one CMT patient. Whereas the SMA patients showed severe characteristic weakness of triceps brachii and quadriceps femoris. All of these four families reside in Kagoshima Prefecture of Japan, and a following haplotype analysis strongly suggests a founder effect. INTERPRETATION: This is the original report referring to a founder mutation in NEFH. The clinical diversity in our study, comprising CMT, with or without pyramidal signs, and SMA, suggest an extensive involvement of peripheral nerve, anterior horn cells, or both. Our findings broaden the phenotypic spectrum of NEFH-related disorders.

DOI： 10.1038/s10038-022-01019-y

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Lee J., Iwasaki T., Kaida T., Chuman H., Yoshimura A., Okamoto Y., Takashima H., Miyata K. . A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene . American Journal of Ophthalmology Case Reports25 101315 2022.1International journal

Language：English Publisher：American Journal of Ophthalmology Case Reports

Purpose: Wolfram syndrome is a rare genetic disorder characterized by juvenile onset of diabetes mellitus with bilateral optic atrophy. We report a case of adult onset Wolfram syndrome with diabetes mellitus at age 22 and optic atrophy after age 40. The WFS1 gene sequence was analyzed in the patient and her father. Observations: A 46-year-old woman presented with bilateral vision loss. She had developed diabetes mellitus at age 22 and underwent bilateral cataract surgery at age 37. Visual acuity was 20/50 in the right eye and 20/200 in the left eye. The pupillary light reflex was sluggish in both eyes. Fundus examination showed bilateral optic atrophy, but there was no diabetic retinopathy. Cecocentral scotoma of both eyes was observed in Goldmann perimetry. There were no intracranial lesions on magnetic resonance imaging. Audiometry demonstrated high-frequency sensorineural hearing loss. Sequence analysis of the WFS1 gene revealed compound heterozygous mutation: c.908T>C p.L303P and c.1232_1233del, p.S411Cfs*131 in the patient and heterozygous mutation c. 908 T>C, p. L303P in her father. Conclusions and importance: The patient was diagnosed with adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 alleles. Wolfram syndrome must be ruled out even in adult-onset diabetic patients with optic atrophy.

DOI： 10.1016/j.ajoc.2022.101315

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Takaki Taniguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Akihiro Hashiguchi, Nozomu Matsuda, Mamoru Yamamoto, Eisuke Dohi, Makoto Takahashi, Masanao Yoshino, Taichi Nomura, Masaaki Matsushima, Ichiro Yabe, Yui Sanpei, Hiroyuki Ishiura, Jun Mitsui, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima . Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments . J Hum Genet.67 ( 6 ) 353 - 362 2022.1Reviewed International journal

Authorship：Last author,　Corresponding author Language：English Publishing type：Research paper (scientific journal)

BACKGROUND AND AIMS: Some hereditary transthyretin (ATTRv) amyloidosis patients are misdiagnosed as Charcot-Marie-Tooth disease (CMT) at onset. We assess the findings to identify ATTRv amyloidosis among patients with suspected CMT to screen transthyretin gene variants for treatments. METHODS: We assessed clinical, cerebrospinal fluid, and electrophysiological findings by comparing ATTRv amyloidosis patients with suspected CMT (n = 10) and CMT patients (n = 489). RESULTS: The median (interquartile range) age at onset of neurological symptoms was 69 (64.2-70) years in the ATTRv amyloidosis vs 12 (5-37.2) years in CMT group (Mann-Whitney U, p < 0.01). The proportion of patients with initial sensory symptoms was 70% in the ATTRv amyloidosis group vs 7.1% in CMT group (Fisher's exact, p < 0.01). The proportion of patients with histories of suspected chronic inflammatory demyelinating polyneuropathy (CIDP) were 50% in the ATTRv amyloidosis group vs 8.7% in CMT group (Fisher's exact, p < .01). Other measures and outcomes were not different between the two groups. Five of the six patients with ATTRv amyloidosis received treatment and survived. INTERPRETATION: For effective treatments, the transthyretin gene should be screened in patients with suspected CMT with old age at onset of neurological symptoms, initial sensory symptoms, and histories of suspected CIDP.

DOI： 10.1038/s10038-021-01005-w

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M.D. Beppu Shohei, M.D. Ph.D. Ikenaka Kensuke, M.D. Ph.D. Yabumoto Taiki, M.D. Ph.D. Todo Kenichi, M.D. Ph.D. Hashiguchi Akihiro, M.D. Ph.D. Takashima Hiroshi, M.D. Ph.D. Mochizuki Hideki . A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant . Rinsho Shinkeigakuadvpub ( 0 ) 205 - 210 2022A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant

Language：Japanese Publisher：Societas Neurologica Japonica

A 67-year-old man presented slowly progressive weakness of the extremities visited our hospital. Nerve conduction study showed axonal neuropathy and needle electromyography showed neurogenic changes with denervation findings in multiple limb muscles. While he was diagnosed as Probable amyotrophic lateral sclerosis (ALS), which is defined by the Awaji criteria for diagnosis of ALS, he did not develop either respiratory muscle paralysis or bulbar palsy, which are characteristic symptoms of sporadic ALS. Genetic testing revealed a novel gene variant in senataxin (SETX), the causative gene of ALS4. We could not make a definite diagnosis of ALS4 because he had no relatives who could perform genetic testing (segregation study). However, we considered the variant can be pathogenic because it was not previously reported and absent in at least 1,000 healthy control individuals, the variant site was highly conserved in mammals, and it may impair the function of senataxin protein (in silico analysis).

DOI： 10.5692/clinicalneurol.cn-001675

PubMed

Shirakawa Shunichi, Murakami Tatufumi, Hashiguchi Akihiro, Takashima Hiroshi, Hasegawa Hiroshi, Ichida Kimiyoshi, Sunada Yoshihide . A Novel PRPS1 Mutation in a Japanese Patient with CMTX5 . Internal Medicine61 ( 11 ) 1749 - 1751 2021.12Reviewed

Language：English Publisher：The Japanese Society of Internal Medicine

The PRPS1 gene encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). The phenotypes associated with PRPS1 mutations include DFN2 (mild PRS-1 deficiency), X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) (moderate PRS-1 deficiency), Arts syndrome (severe PRS-1 deficiency), and PRS-1 superactivity1. CMTX5 is a very rare hereditary neuropathy characterized by deafness, optic atrophy, and polyneuropathy. We herein report a Japanese patient with CMTX5 who had a novel hemizygous mutation c.82 G>C in PRPS1. Despite showing a typical clinical picture, the decrease in enzyme activity measured in the patient's erythrocytes was milder than in previously reported cases.

DOI： 10.2169/internalmedicine.8029-21

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Kimura Yasuyoshi, Naka Takashi, Nishikawa Akira, Hashiguchi Akihiro, Etoh Masaki, Yoshimura Akiko, Asai Kanako, Miyashita Noriko, Takashima Hiroshi, Sumi Hisae . An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness . Internal Medicine61 ( 11 ) 1743 - 1747 2021.12Reviewed

Language：English Publisher：The Japanese Society of Internal Medicine

Charcot-Marie-Tooth disease (CMT) is a common hereditary peripheral polyneuropathy encompassing distinct monogenetic disorders. Pathogenic mutations in mitofusin 2 (MFN2) are the most frequent cause of its axonal type, CMT type 2A, with diverse phenotypes. We herein report a Japanese patient with a novel heterozygous MFN2 pathogenic variant (c.740 G>C, p.R247P) and severe CMT phenotypes, including progressive muscle weakness, optic atrophy, urinary inconsistency, and restrictive pulmonary dysfunction with eventration of the diaphragm that developed over her 60-year disease course. Our case expands the clinico-genetic features of MFN2-related CMT and highlights the need to evaluate infrequent manifestations during long-term care of CMT patients.

DOI： 10.2169/internalmedicine.6487-20

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Aoki Sho, Nagashima Kazuaki, Shibata Makoto, Kasahara Hiroo, Fujita Yukio, Hashiguchi Akihiro, Takashima Hiroshi, Ikeda Yoshio . Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening(和訳中) . Internal Medicine60 ( 24 ) 3975 - 3981 2021.12Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening(和訳中)Reviewed International journal

Language：English Publisher：(一社)日本内科学会

症例1は62歳女性で、51歳時に神経障害が疑われ、紹介受診していた。本再受診時には瞳孔の著明な縮瞳を認め、両眼の瞳孔光反射が認められなかった。四肢の遠位筋優位の筋力低下と萎縮を認め、足関節の背屈が重度に障害されて鶏歩をきたしていた。遠位下肢の感覚鈍麻、痛覚鈍麻、振動覚低下を認め、バビンスキー反射のない全身性反射消失が判明した。腰椎MRIでは、著明な馬尾肥厚が明らかとなった。遺伝子検査では、シャルコー・マリー・トゥース病4H型の原因遺伝子であるFGD4遺伝子にホモ接合ミスセンス変異(c.1730G>A[p.Arg577Gln])が認められた。症例2は68歳男性(症例1の兄)で、症例1と同様の症状を認め、腰椎MRIで馬尾肥厚が示された。FGD4遺伝子の解析では、症例1と同一のホモ接合ミスセンス変異が認められた。

Shota Hirakata, Yusuke Sakiyama, Akiko Yoshimura, Mei Ikeda, Katsunori Takahata, Yuichi Tashiro, Michiyoshi Yoshimura, Hitoshi Arata, Hajime Yonezawa, Mari Kirishima, Michiyo Higashi, Miho Hatanaka, Takuro Kanekura, Kenji Yagita, Eiji Matsuura, Hiroshi Takashima . The application of shotgun metagenomics to the diagnosis of granulomatous amoebic encephalitis due to Balamuthia mandrillaris: a case report . 21 ( 1 ) 392 2021.10International journal

Yujiro Higuchi, Masahiro Ando, Akiko Yoshimura, Satoshi Hakotani, Yuki Koba, Yusuke Sakiyama, Yu Hiramatsu, Yuichi Tashiro, Yoshimitsu Maki3, Akihiro Hashiguchi, Junhui Yuan, Yuji Okamoto, Eiji Matsuura, Hiroshi Takashima . Prevalence of Fragile X‑Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan . The Cerebellum21 ( 5 ) 851 - 860 2021.9Reviewed International journal

Inada R, Hirano M, Oka N, Samukawa M, Saigoh K, Suzuki H, Udaka F, Hashiguchi A, Takashima H, Hamada Y, Nakamura Y, Kusunoki S. . Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan . J Neurol.268 ( 8 ) 2933 - 2942 2021.8Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan

Kengo Maeda, Yutaka Yamamoto, Masatsugu Ohuchi, Takuto Sakashita, Masanori Shiohara, Tomo Namura, Masayuki Shintaku, Eiji Matsuura, Hiroshi Takashima . Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F . eNeurologicalSci . 2021.7Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F

Sho Aoki, Kazuaki Nagashima, Makoto Shibata, Hiroo Kasahara, Yukio Fujita, Akihiro Hashiguchi, Hiroshi Takashima, Yoshio Ikeda . Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening . Intern Med . 2021.6Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening

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Papers - TAKASHIMA Hiroshi