Are neuronal intranuclear inclusions the common neuropathology of triplet-repeat disorders with polyglutamine-repeat expansions?

被引：147

作者：

Davies, SW

Beardsall, K

Turmaine, M

DiFiglia, M

Aronin, N

Bates, GP

机构：

[1] UCL, Dept Anat & Dev Biol, London WC1E 6JJ, England

[2] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Neurol, Boston, MA USA

[3] Univ Med & Dent New Jersey, Guys Hosp, Div Med & Mol Genet, London, England

来源：

LANCET | 1998年 / 351卷 / 9096期

关键词：

D O I：

10.1016/S0140-6736(97)08360-8

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Neuronal intranuclear inclusions have been found in the brain of a transgenic mouse model of Huntington's disease and in necropsy brain tissue of patients with Huntington's disease, We suggest that neuronal intranuclear inclusions are the common neuropathology for all inherited diseases caused by expansion of polyglutamine repeats, We also suggest that patients with a pathological diagnosis of neuronal intranuclear hyaline inclusion disease may also have polyglutamine repeat expansions.

引用

页码：131 / 133

页数：3

共 29 条

[11] Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
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 - +
[12] Progressive, age-dependent expansions of the GAA triplet-repeat sequence in dorsal root ganglia of Friedreich ataxia patients
Bidichandani, S.
De Biase, I.
Al-Mahdawi, S.
Pook, M.
MOVEMENT DISORDERS, 2006, 21 : S339 - S339
[13] Interaction between neuronal intranuclear inclusions and promyelocytic leukemia protein nuclear and coiled bodies in CAG repeat diseases
Yamada, M
Sato, T
Shimohata, T
Hayashi, S
Igarashi, S
Tsuji, S
Takahashi, H
AMERICAN JOURNAL OF PATHOLOGY, 2001, 159 (05): : 1785 - 1795
[14] Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
Tian, Yun
Wang, Jun-Ling
Huang, Wen
Zeng, Sheng
Jiao, Bin
Liu, Zhen
Chen, Zhao
Li, Yujing
Wang, Ying
Min, Hao-Xuan
Wang, Xue-Jing
You, Yong
Zhang, Ru-Xu
Chen, Xiao-Yu
Yi, Fang
Zhou, Ya-Fang
Long, Hong-Yu
Zhou, Chao-Jun
Hou, Xuan
Wang, Jun-Pu
Xie, Bin
Liang, Fan
Yang, Zhuan-Yi
Sun, Qi-Ying
Allen, Emily G.
Shafik, Andrew Mark
Kong, Ha Eun
Guo, Ji-Feng
Yan, Xin-Xiang
Hu, Zheng-Mao
Xia, Kun
Jiang, Hong
Xu, Hong-Wei
Duan, Ran-Hui
Jin, Peng
Tang, Bei-Sha
Shen, Lu
AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 105 (01) : 166 - 176
[15] The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model
Rhonda M. Clark
Irene De Biase
Anna P. Malykhina
Sahar Al-Mahdawi
Mark Pook
Sanjay I. Bidichandani
Human Genetics, 2007, 120 : 633 - 640
[16] The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model
Clark, Rhonda M.
De Biase, Irene
Malykhina, Anna P.
Al-Mahdawi, Sahar
Pook, Mark
Bidichandani, Sanjay I.
HUMAN GENETICS, 2007, 120 (05) : 633 - 640
[17] Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype
Kameyama, Shinichi
Mizuguchi, Takeshi
Doi, Hiroshi
Koyano, Shigeru
Okubo, Masaki
Tada, Mikiko
Shimizu, Hiroshi
Fukuda, Hiromi
Tsuchida, Naomi
Uchiyama, Yuri
Koshimizu, Eriko
Hamanaka, Kohei
Fujita, Atsushi
Misawa, Kazuharu
Miyatake, Satoko
Kanai, Kazuaki
Tanaka, Fumiaki
Matsumoto, Naomichi
GENOMICS, 2022, 114 (05)
[18] Transgenic mice with an expanded CAG repeat controlled by the human AR promoter show polyglutamine nuclear inclusions and neuronal dysfunction without neuronal cell death
Adachi, H
Kume, A
Li, M
Nakagomi, Y
Niwa, H
Do, J
Sang, C
Kobayashi, Y
Doyu, M
Sobue, G
HUMAN MOLECULAR GENETICS, 2001, 10 (10) : 1039 - 1048
[19] Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
Jun Sone
Satomi Mitsuhashi
Atsushi Fujita
Takeshi Mizuguchi
Kohei Hamanaka
Keiko Mori
Haruki Koike
Akihiro Hashiguchi
Hiroshi Takashima
Hiroshi Sugiyama
Yutaka Kohno
Yoshihisa Takiyama
Kengo Maeda
Hiroshi Doi
Shigeru Koyano
Hideyuki Takeuchi
Michi Kawamoto
Nobuo Kohara
Tetsuo Ando
Toshiaki Ieda
Yasushi Kita
Norito Kokubun
Yoshio Tsuboi
Kazutaka Katoh
Yoshihiro Kino
Masahisa Katsuno
Yasushi Iwasaki
Mari Yoshida
Fumiaki Tanaka
Ikuo K. Suzuki
Martin C. Frith
Naomichi Matsumoto
Gen Sobue
Nature Genetics, 2019, 51 : 1215 - 1221
[20] Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
Sone, Jun
Mitsuhashi, Satomi
Fujita, Atsushi
Mizuguchi, Takeshi
Hamanaka, Kohei
Mori, Keiko
Koike, Haruki
Hashiguchi, Akihiro
Takashima, Hiroshi
Sugiyama, Hiroshi
Kohno, Yutaka
Takiyama, Yoshihisa
Maeda, Kengo
Doi, Hiroshi
Koyano, Shigeru
Takeuchi, Hideyuki
Kawamoto, Michi
Kohara, Nobuo
Ando, Tetsuo
Ieda, Toshiaki
Kita, Yasushi
Kokubun, Norito
Tsuboi, Yoshio
Katoh, Kazutaka
Kino, Yoshihiro
Katsuno, Masahisa
Iwasaki, Yasushi
Yoshida, Mari
Tanaka, Fumiaki
Suzuki, Ikuo K.
Frith, Martin C.
Matsumoto, Naomichi
Sobue, Gen
NATURE GENETICS, 2019, 51 (08) : 1215 - +

← 1 2 3 →