Faculty Profiles - Ishiura Hiroyuki

Papers - Ishiura Hiroyuki

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Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations. Reviewed International journal

Hiroya Naruse, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Hiroki Takano, Jun Goto, Tatsushi Toda, Shoji Tsuji

Neurogenetics 20 ( 2 ) 65 - 71 2019.5

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

Intermediate-length CAG repeats in ATXN2 have been widely shown to be a risk factor for sporadic amyotrophic lateral sclerosis (SALS). To evaluate the association of ATXN2 intermediate-length CAG repeat alleles with an increased risk of SALS, we investigated distributions of CAG repeat alleles in 394 patients with SALS and 490 control individuals in the Japanese population. In the intermediate-length repeat units of 29 or more, we identified one SALS patient with 31 repeat units and two control individuals with 30 repeat units. Thus, no significant differences in the carrier frequency of intermediate-length CAG repeat alleles were detected between patients with SALS and control individuals. When we investigated the distribution of "large normal alleles" defined as ATXN2 CAG repeats ranging from 24 up to 33 in the Japanese population compared with those in other populations in previous studies, the frequency of large normal alleles was significantly higher in the European and North American series than in the Japanese series. Moreover, these frequencies in the Turkish, Chinese, Korean, and Brazilian (Latin American) series were also higher than that in the Japanese series. These results raise the possibility that the frequencies of large normal alleles in individual populations underlie the frequencies of ALS risk alleles in the corresponding populations.

DOI： 10.1007/s10048-019-00570-9

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Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion. Reviewed International journal

Yuta Ichinose, Hiroyuki Ishiura, Masaki Tanaka, Jun Yoshimura, Koichiro Doi, Takako Umeda, Hajime Yamauchi, Mai Tsuchiya, Kishin Koh, Nobuo Yamashiro, Jun Mitsui, Jun Goto, Hiroshi Onishi, Toshihisa Ohtsuka, Kazumasa Shindo, Shinichi Morishita, Shoji Tsuji, Yoshihisa Takiyama

Parkinsonism & related disorders 61 57 - 63 2019.4

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

INTRODUCTION: Glucocerebrosidase gene (GBA) variants are associated with Parkinson's disease (PD) and dementia with Lewy bodies (DLB). The molecular mechanisms underlying these diseases with GBA variants, however, are not well understood. In order to determine the effect of a deletion mutation in GBA, we performed a neuroimaging, genetic, and enzymatic study in a Japanese family with a gross deletion of exons 3 to 11 in GBA. METHODS: We performed [123I] FP-CIT SPECT and [123I] N-isopropyl-p-iodoamphetamine SPECT (IMP-SPECT), and determined GBA expression and glucocerebrosidase (GCase) activity in leukocytes in two GBA-associated PD patients and nine unaffected individuals (including four mutation carriers) in a Japanese family with a heterozygous gross deletion mutation in the GBA gene. RESULTS: The two PD patients and two of the four clinically unaffected carriers showed decreased [123I] FP-CIT uptake. IMP-SPECT showed a pattern like that in DLB in one patient. When we compared PD patients with GBA mutations with clinically unaffected carriers, there was a poor correlation between the development of PD and the expression level of GBA or GCase activity. CONCLUSION: We confirmed the gross deletion mutation in the GBA gene, which appeared to be associated with the PD or reduced [123I] FP-CIT in this family. However, since we cannot conclude whether a reduction of GCase activity is directly correlated with the pathogenesis of PD or not, longitudinal follow-up of this family is needed.

DOI： 10.1016/j.parkreldis.2018.11.028

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Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy Reviewed

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki, Sumio Sugano, Wei Qu, Kazuki Ichikawa, Hideaki Yurino, Koichiro Higasa, Shota Shibata, Aki Mitsue, Masaki Tanaka, Yaeko Ichikawa, Yuji Takahashi, Hidetoshi Date, Takashi Matsukawa, Junko Kanda, Fumiko Kusunoki Nakamoto, Mana Higashihara, Koji Abe, Ryoko Koike, Mutsuo Sasagawa, Yasuko Kuroha, Naoya Hasegawa, Norio Kanesawa, Takayuki Kondo, Takefumi Hitomi, Masayoshi Tada, Hiroki Takano, Yutaka Saito, Kazuhiro Sanpei, Osamu Onodera, Masatoyo Nishizawa, Masayuki Nakamura, Takeshi Yasuda, Yoshio Sakiyama, Mieko Otsuka, Akira Ueki, Ken Ichi Kaida, Jun Shimizu, Ritsuko Hanajima, Toshihiro Hayashi, Yasuo Terao, Satomi Inomata-Terada, Masashi Hamada, Yuichiro Shirota, Akatsuki Kubota, Yoshikazu Ugawa, Kishin Koh, Yoshihisa Takiyama, Natsumi Ohsawa-Yoshida, Shoichi Ishiura, Ryo Yamasaki, Akira Tamaoka, Hiroshi Akiyama, Taisuke Otsuki, Akira Sano, Akio Ikeda, Jun Goto, Shinichi Morishita, Shoji Tsuji

Nature Genetics 50 ( 4 ) 581 - 590 2018.4

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation Reviewed

Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Hidetoshi Date, Yuji Takahashi, Takashi Matsukawa, Masaki Tanaka, Akiko Ishii, Akira Tamaoka, Keiichi Hokkoku, Masahiro Sonoo, Mari Segawa, Yoshikazu Ugawa, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Goto, Shoji Tsuji

NEUROBIOLOGY OF AGING 61 255.e9 - 255.e16 2018.1

Partial duplication of DHH causes minifascicular neuropathy A novel mutation detection of DHH Reviewed

Naoko Saito Sato, Risa Maekawa, Hiroyuki Ishiura, Jun Mitsui, Hiroya Naruse, Shin-ichi Tokushige, Kazuma Sugie, Genshu Tate, Jun Shimizu, Jun Goto, Shoji Tsuji, Yasushi Shiio

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY 4 ( 6 ) 415 - 421 2017.6

Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum. Reviewed International journal

Kagari Koshi Mano, Takashi Matsukawa, Jun Mitsui, Hiroyuki Ishiura, Shin-Ichi Tokushige, Yuji Takahashi, Naoko Saito Sato, Fumiko Kusunoki Nakamoto, Yaeko Ichikawa, Yu Nagashima, Yasuo Terao, Jun Shimizu, Masashi Hamada, Yoshikazu Uesaka, Genko Oyama, Go Ogawa, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Jun Goto

Neurology. Genetics 2 ( 1 ) e48 2016.2

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

OBJECTIVE: To delineate molecular and clinical characteristics of 3 families with PRNP P105L mutation, a variant of Gerstmann-Sträussler-Scheinker syndrome whose main motor symptoms were parkinsonism and/or involuntary movements. METHODS: The causative mutation was first determined in the affected patients of family 1 using whole-exome sequencing, and then mutational analysis was extended to families 2 and 3. The clinical features of the patients of these 3 families were summarized. Haplotype analysis was performed using high-density single nucleotide polymorphism array. RESULTS: The whole-exome sequencing revealed that the heterozygous mutation c.314C>T (p.P105L) in PRNP was the only known pathogenic mutation shared by the 3 patients of the family with autosomal dominant parkinsonism. We further identified the same mutation in patients of the other 2 families with autosomal dominant parkinsonism and/or involuntary movements. The clinical features of our patients with PRNP P105L mutation included various motor symptoms such as parkinsonism and involuntary movements in addition to progressive dementia. The clinical features in part overlapped with those of other forms of inherited prion diseases, such as fatal familial insomnia and Huntington disease-like type 1. The patients with PRNP P105L mutation shared a haplotype spanning 7.1 Mb around PRNP, raising the possibility that the mutations in the patients originated from a common founder. CONCLUSION: Most of the patients presented with parkinsonism in addition to progressive dementia. Although spastic paraparesis has been emphasized as the main clinical feature, the clinical spectrum of patients with PRNP P105L is broader than expected.

DOI： 10.1212/NXG.0000000000000048

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Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72 Reviewed

Hiroyuki Ishiura, Shoji Tsuji

JOURNAL OF NEUROGENETICS 29 ( 2-3 ) 85 - 94 2015

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses Reviewed

Hiroyuki Ishiura, Yuji Takahashi, Toshihiro Hayashi, Kayoko Saito, Hirokazu Furuya, Mitsunori Watanabe, Miho Murata, Mikiya Suzuki, Akira Sugiura, Setsu Sawai, Kazumoto Shibuya, Naohisa Ueda, Yaeko Ichikawa, Ichiro Kanazawa, Jun Goto, Shoji Tsuji

JOURNAL OF HUMAN GENETICS 59 ( 3 ) 163 - 172 2014.3

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19 Reviewed

Yuji Takahashi, Yoko Fukuda, Jun Yoshimura, Atsushi Toyoda, Kari Kurppa, Hiroyoko Moritoyo, Veronique V. Belzil, Patrick A. Dion, Koichiro Higasa, Koichiro Doi, Hiroyuki Ishiura, Jun Mitsui, Hidetoshi Date, Budrul Ahsan, Takashi Matsukawa, Yaeko Ichikawa, Takashi Moritoyo, Mayumi Ikoma, Tsukasa Hashimoto, Fumiharu Kimura, Shigeo Murayama, Osamu Onodera, Masatoyo Nishizawa, Mari Yoshida, Naoki Atsuta, Gen Sobue, Jennifer A. Fifita, Kelly L. Williams, Ian P. Blair, Garth A. Nicholson, Paloma Gonzalez-Perez, Robert H. Brown, Masahiro Nomoto, Klaus Elenius, Guy A. Rouleau, Asao Fujiyama, Shinichi Morishita, Jun Goto, Shoji Tsuji

AMERICAN JOURNAL OF HUMAN GENETICS 93 ( 5 ) 900 - 905 2013.11

Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy Reviewed

Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Yoko Fukuda, Yaeko Ichikawa, Hidetoshi Date, Budrul Ahsan, Yasuo Nakahara, Yoshio Momose, Yuji Takahashi, Atsushi Iwata, Jun Goto, Yorihiro Yamamoto, Makiko Komata, Katsuhiko Shirahige, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hiroshi Takashima, Ryozo Kuwano, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Hiroyuki Soma, Ichiro Yabe, Hidenao Sasaki, Masashi Aoki, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Takamichi Hattori, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Tomoyoshi Kondo, Shigeo Murayama, Nobutaka Hattori, Mitsutoshi Yamamoto, Miho Murata, Wataru Satake, Tatsushi Toda, Alexandra Duerr, Alexis Brice, Alessandro Filla, Thomas Klockgether, Ullrich Wuellner, Garth Nicholson, Sid Gilman, Clifford W. Shults, Caroline M. Tanner, Walter A. Kukull, Virginia M. -Y. Lee, Eliezer Masliah, Phillip A. Low, Paola Sandroni, John Q. Trojanowski, Laurie Ozelius, Tatiana Foroud, Shoji Tsuji

NEW ENGLAND JOURNAL OF MEDICINE 369 ( 3 ) 233 - 244 2013.7

C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan Reviewed

Hiroyuki Ishiura, Yuji Takahashi, Jun Mitsui, Sohei Yoshida, Tameko Kihira, Yasumasa Kokubo, Shigeki Kuzuhara, Laura P. W. Ranum, Tomoko Tamaoki, Yaeko Ichikawa, Hidetoshi Date, Jun Goto, Shoji Tsuji

ARCHIVES OF NEUROLOGY 69 ( 9 ) 1154 - 1158 2012.9

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement Reviewed

Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan, Yaeko Ichikawa, Atsushi Iwata, Hiide Yoshino, Yuishin Izumi, Koji Fujita, Kouji Maeda, Satoshi Goto, Hidetaka Koizumi, Ryoma Morigaki, Masako Ikemura, Naoko Yamauchi, Shigeo Murayama, Garth A. Nicholson, Hidefumi Ito, Gen Sobue, Masanori Nakagawa, Ryuji Kaji, Shoji Tsujii

AMERICAN JOURNAL OF HUMAN GENETICS 91 ( 2 ) 320 - 329 2012.8

Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type Reviewed

Makiko Taira, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Toshihiro Hayashi, Jun Shimizu, Takashi Matsukawa, Naoko Saito, Kazumasa Okada, Sadatoshi Tsuji, Hiromasa Sawamura, Shiro Amano, Jun Goto, Shoji Tsuji

NEUROGENETICS 13 ( 3 ) 237 - 243 2012.8

Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1 Reviewed

Hiroyuki Ishiura, Yoko Fukuda, Jun Mitsui, Yasuo Nakahara, Budrul Ahsan, Yuji Takahashi, Yaeko Ichikawa, Jun Goto, Tetsuo Sakai, Shoji Tsuji

NEUROGENETICS 12 ( 2 ) 117 - 121 2011.5

TRPM7 Is Not Associated With Amyotrophic Lateral Sclerosis-Parkinsonism Dementia Complex in the Kii Peninsula of Japan Reviewed

Kenju Hara, Yasumasa Kokubo, Hiroyuki Ishiura, Yuko Fukuda, Akinori Miyashita, Ryozo Kuwano, Ryogen Sasaki, Jun Goto, Masatoyo Nishizawa, Shigeki Kuzuhara, Shoji Tsuji

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 153B ( 1 ) 310 - 313 2010.1

RESPONSE OF ANTI-NMDA RECEPTOR ENCEPHALITIS WITHOUT TUMOR TO IMMUNOTHERAPY INCLUDING RITUXIMAB Reviewed

H. Ishiura, S. Matsuda, M. Higashihara, M. Hasegawa, A. Hida, R. Hanajima, T. Yamamoto, J. Shimizu, J. Dalmau, S. Tsuji

NEUROLOGY 71 ( 23 ) 1921 - 1923 2008.12

Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis Reviewed

Yuji Takahashi, Naomi Seki, Hiroyuki Ishiura, Jun Mitsui, Takashi Matsukawa, Atsushi Kishino, Osamu Onodera, Masashi Aoki, Nobuyuki Shimozawa, Shigeo Murayama, Yasuto Itoyama, Yasuyuki Suzuki, Gen Sobue, Masatoyo Nishizawa, Jun Goto, Shoji Tsuji

ARCHIVES OF NEUROLOGY 65 ( 10 ) 1326 - 1332 2008.10

Lymphomatoid granulomatosis involving central nervous system successfully treated with rituximab alone Reviewed

Hiroyuki Ishiura, Masato Morikawa, Masashi Hamada, Takuro Watanabe, Shinichi Kako, Shigeru Chiba, Toru Motokura, Akira Hangaishi, Junji Shibahara, Masaaki Akahane, Jun Goto, Shin Kwak, Mineo Kurokawa, Shoji Tsuji

ARCHIVES OF NEUROLOGY 65 ( 5 ) 662 - 665 2008.5

Spearmint extract Neumentix downregulates amyloid-β accumulation by promoting phagocytosis in APP23 mice. International journal

Xinran Hu, Ryuta Morihara, Yusuke Fukui, Yuting Bian, Hongming Sun, Ricardo Satoshi Ota-Elliott, Hiroyuki Ishiura, Koji Abe, Toru Yamashita

Brain research 1863 149752 - 149752 2025.6

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

In recent years, many researchers have focused on natural compounds that can effectively delay symptoms of Alzheimer's disease (AD). The spearmint extract Neumentix, which is rich in phenolic compounds, has been shown to reduce inflammatory responses and oxidative stress in mice. However, the effect of Neumentix on AD has not been thoroughly studied. In this study, APP23 transgenic female and male mice were administered Neumentix orally from 4 to 18 months of age at a dosage of 2.65 g/kg/day (containing 0.41 g/kg/day of rosmarinic acid). The impact was evaluated by behavioral tests and histological analyses and compared with APP23 mice to which Neumentix was not administered. The results showed that Neumentix administration increased the survival rate of APP23 mice and effectively reduced Aβ accumulation by enhancing its phagocytosis by microglial cells. These findings suggest that Neumentix is a potential natural nutritional treatment for improving the progression of AD.

DOI： 10.1016/j.brainres.2025.149752

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[Genetics of Motor Neuron Diseases and Hereditary Spastic Paraplegia].

Hiroyuki Ishiura

Brain and nerve = Shinkei kenkyu no shinpo 77 ( 5 ) 481 - 491 2025.5

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

Motor neuron diseases encompass a range of phenotypes, including amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), and spinal muscular atrophy (SMA). Related conditions include spinal and bulbar muscular atrophy (SBMA) and hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P). Hereditary spastic paraplegia (HSP)-a group of disorders primarily affecting the corticospinal tract-also exhibits diverse clinical manifestations. This review summarizes the genetic basis of these diseases, along with their clinical characteristics, diagnostic approaches, and disease-specific therapies.

DOI： 10.11477/mf.188160960770050481

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Papers - Ishiura Hiroyuki