Recent topics of oculopharyngodistal myopathy

被引：2

作者：

Eura, Nobuyuki ^{[1
,2
]}

Ogasawara, Masashi ^{[1
,3
]}

Nishino, Ichizo ^{[1
]}

机构：

[1] Natl Inst Neurosci, Natl Ctr Neurol & Psychiat NCNP, Dept Neuromuscular Res, Kodaira, Tokyo 1878502, Japan

[2] Nara Med Univ, Dept Neurol, Kashihara, Nara, Japan

[3] Showa Gen Hosp, Dept Pediat, Kodaira, Tokyo, Japan

来源：

NEUROLOGY AND CLINICAL NEUROSCIENCE | 2024年 / 12卷 / 01期

关键词：

genetics; oculopharyngodistal myopathy; pathomechanism; protein toxicity; RNA toxicity; DISTAL MYOPATHY; GGC REPEAT; EXPANSIONS; DISTINCT; TRANSLATION; INCLUSIONS; FEATURES; PROTEIN; GIPC1; ONSET;

D O I：

10.1111/ncn3.12680

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease manifesting with progressive ocular, bulbar, and predominantly distal limb weakness. Muscle pathology is characterized by the presence of rimmed vacuoles and small angular fibers. To date, LRP12, GIPC1, NOTCH2NLC, and RILPL1 have been reported as the causative genes for OPDM, with the subtypes categorized according to each gene. The clinicopathological and genetic features (triplet repeats in 5' untranslated region) are similar among all OPDM subtypes, suggesting a comparable pathogenesis among them. Several studies have demonstrated the possible pathomechanism of OPDM, such as protein/RNA gain-of-function theories. In this review, we summarized the recent advances in the molecular mechanism, clinicopathological findings, and management of the disease.

引用

页码：10 / 15

页数：6

共 38 条

[1] CHILDHOOD-ONSET OCULOPHARYNGODISTAL MYOPATHY WITH CHRONIC INTESTINAL-PSEUDO-OBSTRUCTION [J].

AMATO, AA ;

JACKSON, CE ;

RIDINGS, LW ;

BAROHN, RJ .

MUSCLE & NERVE, 1995, 18 (08) :842-847

[2] Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases [J].

Boivin, Manon ;

Deng, Jianwen ;

Pfister, Veronique ;

Grandgirard, Erwan ;

Oulad-Abdelghani, Mustapha ;

Morlet, Bastien ;

Ruffenach, Frank ;

Negroni, Luc ;

Jacob, Hugues ;

Riet, Fabrice ;

Dijkstra, Anke A. ;

McFadden, Kathryn ;

Clayton, Wiley A. ;

Hong, Daojun ;

Miyahara, Hiroaki ;

Iwasaki, Yasushi ;

Sone, Jun ;

Wang, Zhaoxia ;

Charlet-Berguerand, Nicolas .

NEURON, 2021, 109 (11) :1825-+

[3] Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy [J].

Brais, B ;

Bouchard, JP ;

Xie, YG ;

Rochefort, DL ;

Chrétien, N ;

Tomé, FMS ;

Lafrenière, RG ;

Rommens, JM ;

Uyama, E ;

Nohira, O ;

Blumen, S ;

Korcyn, AD ;

Heutink, P ;

Mathieu, J ;

Duranceau, A ;

Codère, F ;

Fardeau, M ;

Rouleau, GA .

NATURE GENETICS, 1998, 18 (02) :164-167

[4] Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease [J].

Deng, Jianwen ;

Zhou, Binbin ;

Yu, Jiaxi ;

Han, Xiaochen ;

Fu, Jianhui ;

Li, Xiaobin ;

Xie, Xufang ;

Zhu, Min ;

Zheng, Yilei ;

Guo, Xueyu ;

Li, Pidong ;

Wang, Qingqing ;

Liu, Jing ;

Zhang, Wei ;

Yuan, Yun ;

Yao, Sheng ;

Wang, Zhaoxia ;

Hong, Daojun .

JOURNAL OF MEDICAL GENETICS, 2022, 59 (05) :462-469

[5] Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy [J].

Deng, Jianwen ;

Yu, Jiaxi ;

Li, Pidong ;

Luan, Xinghua ;

Cao, Li ;

Zhao, Juan ;

Yu, Meng ;

Zhang, Wei ;

Lv, He ;

Xie, Zhiying ;

Meng, LingChao ;

Zheng, Yiming ;

Zhao, Yawen ;

Gang, Qiang ;

Wang, Qingqing ;

Liu, Jing ;

Zhu, Min ;

Guo, Xueyu ;

Su, Yanan ;

Liang, Yu ;

Liang, Fan ;

Hayashi, Tomohiro ;

Maeda, Meiko Hashimoto ;

Sato, Tatsuro ;

Ura, Shigehisa ;

Oya, Yasushi ;

Ogasawara, Masashi ;

Iida, Aritoshi ;

Nishino, Ichizo ;

Zhou, Chang ;

Yan, Chuanzhu ;

Yuan, Yun ;

Hong, Daojun ;

Wang, Zhaoxia .

AMERICAN JOURNAL OF HUMAN GENETICS, 2020, 106 (06) :793-804

[6] Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients [J].

Durmus, H. ;

Laval, S. H. ;

Deymeer, F. ;

Parman, Y. ;

Kiyan, E. ;

Gokyigiti, M. ;

Ertekin, C. ;

Ercan, I. ;

Solakoglu, S. ;

Karcagi, V. ;

Straub, V. ;

Bushby, K. ;

Lochmueller, H. ;

Serdaroglu-Oflazer, P. .

NEUROLOGY, 2011, 76 (03) :227-235

[7] GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders [J].

Fan, Yu ;

Shen, Si ;

Yang, Jing ;

Yao, Dabao ;

Li, Mengjie ;

Mao, Chengyuan ;

Wang, Yunchao ;

Hao, Xiaoyan ;

Ma, Dongrui ;

Li, Jiadi ;

Shi, Jingjing ;

Guo, Mengnan ;

Li, Shuangjie ;

Yuan, Yanpeng ;

Liu, Fen ;

Yang, Zhihua ;

Zhang, Shuo ;

Hu, Zhengwei ;

Fan, Liyuan ;

Liu, Han ;

Zhang, Chan ;

Wang, Yanlin ;

Wang, Qingzhi ;

Zheng, Hong ;

He, Ying ;

Song, Bo ;

Xu, Yuming ;

Shi, Changhe .

ANNALS OF NEUROLOGY, 2022, 91 (05) :704-715

[8]

GOTO I, 1977, J NEUROL NEUROSUR PS, V40, P600, DOI 10.1136/jnnp.40.6.600

[9] Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease [J].

Ishiura, Hiroyuki ;

Shibata, Shota ;

Yoshimura, Jun ;

Suzuki, Yuta ;

Qu, Wei ;

Doi, Koichiro ;

Almansour, M. Asem ;

Kikuchi, Junko Kanda ;

Taira, Makiko ;

Mitsui, Jun ;

Takahashi, Yuji ;

Ichikawa, Yaeko ;

Mano, Tatsuo ;

Iwata, Atsushi ;

Harigaya, Yasuo ;

Matsukawa, Miho Kawabe ;

Matsukawa, Takashi ;

Tanaka, Masaki ;

Shirota, Yuichiro ;

Ohtomo, Ryo ;

Kowa, Hisatomo ;

Date, Hidetoshi ;

Mitsue, Aki ;

Hatsuta, Hiroyuki ;

Morimoto, Satoru ;

Murayama, Shigeo ;

Shiio, Yasushi ;

Saito, Yuko ;

Mitsutake, Akihiko ;

Kawai, Mizuho ;

Sasaki, Takuya ;

Sugiyama, Yusuke ;

Hamada, Masashi ;

Ohtomo, Gaku ;

Terao, Yasuo ;

Nakazato, Yoshihiko ;

Takeda, Akitoshi ;

Sakiyama, Yoshio ;

Umeda-Kameyama, Yumi ;

Shinmi, Jun ;

Ogata, Katsuhisa ;

Kohno, Yutaka ;

Lim, Shen-Yang ;

Tan, Ai Huey ;

Shimizu, Jun ;

Goto, Jun ;

Nishino, Ichizo ;

Toda, Tatsushi ;

Morishita, Shinichi ;

Tsuji, Shoji .

NATURE GENETICS, 2019, 51 (08) :1222-+

[10] Protein composition of the intranuclear inclusions of FXTAS [J].

Iwahashi, CK ;

Yasui, DH ;

An, HJ ;

Greco, CM ;

Tassone, F ;

Nannen, K ;

Babineau, B ;

Lebrilla, CB ;

Hagerman, RJ ;

Hagerman, PJ .

BRAIN, 2006, 129 :256-271

← 1 2 3 4 →