Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma

被引：43

作者：

Gelpi, Ellen ^{[1
]}

Botta-Orfila, Teresa ^{[2
,3
]}

Bodi, Laia ^{[4
]}

Marti, Stefanie ^{[2
,3
]}

Kovacs, Gabor ^{[5
]}

Grau-Rivera, Oriol ^{[1
,6
]}

Lozano, Manuel ^{[7
]}

Sanchez-Valle, Raquel ^{[6
]}

Munoz, Esteban ^{[8
]}

Valldeoriola, Francesc ^{[8
]}

Pagonabarraga, Javier ^{[9
]}

Tartaglia, Gian-Gaetano ^{[2
,3
,10
]}

Mila, Montserrat ^{[4
]}

机构：

[1] Biobanc Hosp Clin IDIBAPS, Neurol Tissue Bank, Barcelona, Spain

[2] Barcelona Inst Sci & Technol, CRG, Dr Aiguader 88, Barcelona 08003, Spain

[3] Univ Pompeu Fabra, Barcelona, Spain

[4] Hosp Clin Barcelona, Dept Genet, Barcelona, Spain

[5] Med Univ Vienna, Inst Neurol, Vienna, Austria

[6] Hosp Clin Barcelona, Neurol Dept, Alzheimers Dis & Other Cognit Disorders Unit, Barcelona, Spain

[7] Hosp Germans Trias I Pujol, Neurol Dept, Badalona, Spain

[8] Hosp Clin Barcelona, Movement Disorders Unit, Neurol Dept, Barcelona, Spain

[9] Hosp Santa Creu & Sant Pau, Neurol Dept, Barcelona, Spain

[10] ICREA, Barcelona, Spain

来源：

BRAIN | 2017年 / 140卷

基金：

欧洲研究理事会;

关键词：

TREMOR ATAXIA SYNDROME; SYNDROME FXTAS; PREMUTATION; NEURODEGENERATION; TRANSLATION;

D O I：

10.1093/brain/awx156

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：E51 / +

页数：5

共 19 条

[1] A Majority of FXTAS Cases Present with Intranuclear Inclusions Within Purkinje Cells
Ariza, Jeanelle
Rogers, Hailee
Monterrubio, Angela
Reyes-Miranda, Adriana
Hagerman, Paul J.
Martinez-Cerdeno, Veronica
[J]. CEREBELLUM, 2016, 15 (05) : 546 - 551
[2] Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development
Botta-Orfila, Teresa
Gaetano Tartaglia, Gian
Michalon, Aubin
[J]. CEREBELLUM, 2016, 15 (05) : 599 - 610
[3] Neurodegenerative diseases: Quantitative predictions of protein-RNA interactions
Cirillo, Davide
Agostini, Federico
Klus, Petr
Marchese, Domenica
Rodriguez, Silvia
Bolognesi, Benedetta
Gaetano Tartaglia, Gian
[J]. RNA, 2013, 19 (02) : 129 - 140
[4] Fibroblast phenotype in male carriers of FMR1 premutation alleles
Garcia-Arocena, Dolores
Yang, Jane E.
Brouwer, Judith R.
Tassone, Flora
Iwahashi, Christine
Berry-Kravis, Elizabeth M.
Goetz, Christopher G.
Sumis, Allison M.
Zhou, Lili
Nguyen, Danh V.
Campos, Luis
Howell, Erin
Ludwig, Anna
Greco, Claudia
Willemsen, Rob
Hagerman, Randi J.
Hagerman, Paul J.
[J]. HUMAN MOLECULAR GENETICS, 2010, 19 (02) : 299 - 312
[5] Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
Greco, CM
Berman, RF
Martin, RM
Tassone, F
Schwartz, PH
Chang, A
Trapp, BD
Iwahashi, C
Brunberg, J
Grigsby, J
Hessl, D
Becker, EJ
Papazian, J
Leehey, MA
Hagerman, RJ
Hagerman, PJ
[J]. BRAIN, 2006, 129 : 243 - 255
[6] Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms
Hagerman, Paul
[J]. ACTA NEUROPATHOLOGICA, 2013, 126 (01) : 1 - 19
[7] The fragile-X premutation: A maturing perspective
Hagerman, PJ
Hagerman, RJ
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (05) : 805 - 816
[8] Hunsaker Michael R, 2013, F1000Res, V2, P287, DOI 10.12688/f1000research.2-287.v1
[9] Ubiquilin immunoreactivity in cytoplasmic and nuclear inclusions in synucleinopathies, polyglutamine diseases and intranuclear inclusion body disease
Mori, Fumiaki
Tanji, Kunikazu
Odagiri, Saori
Toyoshima, Yasuko
Yoshida, Mari
Ikeda, Teruaki
Sasaki, Hidenao
Kakita, Akiyoshi
Takahashi, Hitoshi
Wakabayashi, Koichi
[J]. ACTA NEUROPATHOLOGICA, 2012, 124 (01) : 149 - 151
[10] ADULT-ONSET NEURONAL INTRANUCLEAR HYALINE INCLUSION DISEASE
MUNOZGARCIA, D
LUDWIN, SK
[J]. NEUROLOGY, 1986, 36 (06) : 785 - 790

← 1 2 →