Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum

被引：29

作者：

Mademan, Ines ^{[1
,2
]}

Harmuth, Florian ^{[3
]}

Giordano, Ilaria ^{[4
,5
]}

Timmann, Dagmar ^{[6
]}

Magri, Stefania ^{[7
]}

Deconinck, Tine ^{[1
,2
]}

Claassen, Jens ^{[6
]}

Jokisch, Daniel ^{[6
]}

Genc, Gencer ^{[8
]}

Di Bella, Daniela ^{[7
]}

Romito, Silvia ^{[9
]}

Schuele, Rebecca ^{[10
,11
]}

Zuechner, Stephan

Taroni, Franco ^{[7
]}

Klockgether, Thomas ^{[4
,5
]}

Schoels, Ludger ^{[10
,11
]}

De Jonghe, Peter ^{[1
,2
,12
,13
,14
]}

Bauer, Peter ^{[3
]}

Baets, Jonathan ^{[1
,2
,12
,13
,14
]}

Synofzik, Matthis ^{[10
,11
]}

机构：

[1] VIB, Dept Mol Genet, Neurogenet Grp, Antwerp, Belgium

[2] Univ Antwerp, Inst Born Bunge, Neurogenet Lab, Antwerp, Belgium

[3] Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany

[4] Univ Hosp Bonn, Dept Neurol, Bonn, Germany

[5] German Res Ctr Neurodegenerat Dis DZNE, Bonn, Germany

[6] Univ Duisburg Essen, Dept Neurol, Essen, Germany

[7] Fdn IRCCS Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

[8] Gumussuyu Mil Hosp, Dept Neurol, Istanbul, Turkey

[9] Azienda Osped Univ Integrata, Dept Neurosci, Div Neurol, Verona, Italy

[10] Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, Germany

[11] German Res Ctr Neurodegenerat Dis DZNE, Tubingen, Germany

[12] Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA

[13] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA

[14] Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium

来源：

BRAIN | 2016年 / 139卷

关键词：

CEREBELLAR-ATAXIA; GENETIC-VARIANTS; DISEASE;

D O I：

10.1093/brain/aww115

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：6

共 50 条

[1] Identifying SYNE1 ataxia and extending the mutational spectrum in Korea
Kim, Ji Sun
Kim, Ah Reum
Youn, Jinyoung
Lee, Chung
Kim, Nam-Soon
Park, Woong-Yang
Park, Jong Kyu
Kim, Nayoung K. D.
Cho, Jin Whan
[J]. PARKINSONISM & RELATED DISORDERS, 2019, 58 : 74 - 78
[2] Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia
Karlsson, William Kristian
Hojgaard, Joan Lilja Sunnleyg
Vilhelmsen, Anna
Crone, Clarissa
Andersen, Birgit
Law, Ian
Moller, Lisbeth Birk
Nielsen, Troels Tolstrup
Nielsen, Emilie Neerup
Krag, Thomas
Svenstrup, Kirsten
Nielsen, Jorgen Erik
[J]. CEREBELLUM, 2022, 21 (03): : 514 - 519
[3] Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum
Holla, Vikram V.
Surisetti, Bharath Kumar
Prasad, Shweta
Pal, Pramod Kumar
[J]. PARKINSONISM & RELATED DISORDERS, 2021, 87 : 22 - 24
[4] Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia
William Kristian Karlsson
Joan Lilja Sunnleyg Højgaard
Anna Vilhelmsen
Clarissa Crone
Birgit Andersen
Ian Law
Lisbeth Birk Møller
Troels Tolstrup Nielsen
Emilie Neerup Nielsen
Thomas Krag
Kirsten Svenstrup
Jørgen Erik Nielsen
[J]. The Cerebellum, 2022, 21 : 514 - 519
[5] Cognitive and Psychiatric Evaluation in SYNE1 Ataxia
Drumond Gama, Maria Thereza
Braga-Neto, Pedro
Dutra, Livia Almeida
Alessi, Helena
Maria, Lilia Alves
Gadelha, Ary Araripe
Ortiz, Bruno Bertolucci
Kunii, Ilda
Correia-Silva, Silvia Regina
Dias da Silva, Magnus R.
Dion, Patrick A.
Rouleau, Guy A.
Franca, Marcondes Cavalcante, Jr.
Barsottini, Orlando G. P.
Pedroso, Jose Luiz
[J]. CEREBELLUM, 2019, 18 (04): : 731 - 737
[6] Cognitive and Psychiatric Evaluation in SYNE1 Ataxia
Maria Thereza Drumond Gama
Pedro Braga-Neto
Livia Almeida Dutra
Helena Alessi
Lilia Alves Maria
Ary Araripe Gadelha
Bruno Bertolucci Ortiz
Ilda Kunii
Silvia Regina Correia-Silva
Magnus R. Dias da Silva
Patrick A. Dion
Guy A. Rouleau
Marcondes Cavalcante França
Orlando G. P. Barsottini
José Luiz Pedroso
[J]. The Cerebellum, 2019, 18 : 731 - 737
[7] An autosomal recessive ataxia caused by SYNE1 mutations
[J]. Nature Clinical Practice Neurology, 2007, 3 (4): : 182 - 182
[8] Multimodal neuroimaging analysis in patients with SYNE1 Ataxia
Gama, Maria T. D.
Piccinin, Camila C.
Rezende, Thiago J. R.
Dion, Patrick A.
Rouleau, Guy A.
Franca Junior, Marcondes C.
Barsottini, Orlando G. P.
Pedroso, Jose Luiz
[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2018, 390 : 227 - 230
[9] SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia
Noreau, Anne
Bourassa, Cynthia V.
Szuto, Anna
Levert, Annie
Dobrzeniecka, Sylvia
Gauthier, Julie
Forlani, Sylvie
Durr, Alexandra
Anheim, Mathieu
Stevanin, Giovanni
Brice, Alexis
Bouchard, Jean-Pierre
Dion, Patrick A.
Dupre, Nicolas
Rouleau, Guy A.
[J]. JAMA NEUROLOGY, 2013, 70 (10) : 1296 - 1301
[10] Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population
Peng, Yun
Ye, Wei
Chen, Zhao
Peng, Huirong
Wang, Puzhi
Hou, Xuan
Wang, Chunrong
Zhou, Xin
Hou, Xiaocan
Li, Tangjiao
Qiu, Rong
Hu, Zhengmao
Tang, Beisha
Jiang, Hong
[J]. FRONTIERS IN NEUROLOGY, 2018, 9

← 1 2 3 4 5 →