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

[31] Extended Phenotypes of Autosomal Recessive Cerebellar Ataxia Type 1: Learn From a Novel Mutation of SYNE1 Gene
Lee, T. L.
Chien, C. Y.
Sun, Y. T.
[J]. MOVEMENT DISORDERS, 2023, 38 : S327 - S329
[32] SYNE1 mutations cause adult onset autosomal recessive ataxia with retained reflexes in Brazilian patients
Drumond Gama, Maria Thereza
Pedroso, Jose Luiz
Barsottini, Orlando
Noreau, Anne
Houle, Gabrielle
Dionne-Laporte, Alexandre
Dion, Patrick
Rouleau, Guy
[J]. NEUROLOGY, 2017, 88
[33] A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8
Yoshinaga T.
Nakamura K.
Ishikawa M.
Yamaguchi T.
Takano K.
Wakui K.
Kosho T.
Yoshida K.
Fukushima Y.
Sekijima Y.
[J]. Human Genome Variation, 4 (1)
[34] Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient
J Valentina Castillo
S Catherine Díaz
María Leonor Bustamante
Matheus Gomes Ferreira
Hélio A. G. Teive
Marcelo Miranda
[J]. The Cerebellum, 2021, 20 : 938 - 941
[35] Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient
Valentina Castillo, J.
Catherine Diaz, S.
Bustamante, Maria Leonor
Ferreira, Matheus Gomes
Teive, Helio A. G.
Miranda, Marcelo
[J]. CEREBELLUM, 2021, 20 (06): : 938 - 941
[36] Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease (vol 80, pg 600, 2013)
Izumi, Y.
[J]. NEUROLOGY, 2013, 80 (13) : 1267 - 1267
[37] Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes
Mokhtari, Diana
Jahanpanah, Mohammad
Jabbari, Nasim
Azari, Hamed
Davarnia, Sana
Mokaber, Haleh
Arish, Sara
Molatefi, Rasol
Abbasi, Vahid
Davarnia, Behzad
[J]. HUMAN GENOME VARIATION, 2024, 11 (01)
[38] Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family
Qian, Nannan
Wei, Taohua
Yang, Wenming
Wang, Jiuxiang
Zhang, Shijie
Jin, Shan
Dong, Wei
Hao, Wenjie
Yang, Yue
Huang, Ru
[J]. FRONTIERS IN GENETICS, 2022, 13
[39] Rare Genetic Variations in SACS, SYNE1, LMNB1, TRPC3, or SETX Are Not a Significant Cause of Sporadic Cerebellar Ataxia
Fogel, Brent L.
Lee, Ji Yong
Becker, Esther B. E.
Lane, Jessica
Klein, Eric
Mamah, Catherine
Perlman, Susan
Geschwind, Daniel
Coppola, Giovanni
[J]. NEUROLOGY, 2011, 76 (09) : A351 - A351
[40] Extending the phenotypic spectrum associated with loss of desmoglein 1
Has, C.
Jakob, T.
He, Y.
Kiritsi, D.
Bruckner-Tuderman, L.
[J]. JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2014, 12 : 4 - 4

← 1 2 3 4 5 →