Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy

被引：1

作者：

Pellerin, David ^{[1
]}

Wilke, Carlo ^{[2
,3
,4
]}

Traschuez, Andreas ^{[4
]}

Nagy, Sara ^{[1
,5
]}

Curro, Riccardo ^{[1
]}

Dicaire, Marie-Josee ^{[6
]}

Garcia-Moreno, Hector ^{[7
]}

Anheim, Mathieu ^{[8
]}

Wirth, Thomas ^{[8
]}

Faber, Jennifer ^{[9
]}

Timmann, Dagmar ^{[10
,11
]}

Depienne, Christel ^{[10
,12
]}

Rujescu, Dan ^{[13
]}

Gazulla, Jose ^{[14
]}

Reilly, Mary M. ^{[1
]}

Giunti, Paola

Brais, Bernard ^{[15
]}

Houlden, Henry

Schoes, Ludger ^{[2
,3
]}

Strupp, Michael ^{[16
]}

Cortese, Andrea ^{[1
]}

Synofzik, Matthis ^{[2
,3
,4
]}

机构：

[1] UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

[2] Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, Tubingen, Germany

[3] Ctr Neurol, Tubingen, Germany

[4] German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany

[5] Univ Basel, Dept Neurol, Dept Neurol, Univ Basel Hosp, Basel, Switzerland

[6] Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, Canada

[7] UCL Queen Sq Inst Neurol, Ataxia Ctr, London, England

[8] Hop Univ Strasbourg, Serv Neurol, Strasbourg, France

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

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

[11] Ctr Translat Neuro & Behav Sci C TNBS, Essen, Germany

[12] Univ Duisburg Essen, Inst Human Genet, Essen, Germany

[13] Med Univ Vienna, Dept Psychiat & Psychotherapy, Comprehens Ctr Clin Neurosci & Mental Hlth, Vienna, Austria

[14] Hosp Univ Miguel Servet, Dept Neurol, Zaragoza, Spain

[15] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[16] Ludwig Maximilians Univ Munchen, Neurol, Munich, Germany

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2023年 / 455卷

关键词：

D O I：

10.1016/j.jns.2023.121185

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

121185

引用

页数：1

共 44 条

[1] Intronic FGF14 GAA Repeat Expansions are a Common Cause of Ataxia Syndromes with Neuropathy and Bilateral Vestibulopathy
Pellerin, D.
Wilke, C.
Traschutz, A.
Nagy, S.
Curro, R.
Dicaire, M-J.
Garcia-Moreno, H.
Anheim, M.
Wirth, T.
Faber, J.
Timmann, D.
Depienne, C.
Rujescu, D.
Gazulla, J.
Reilly, M.
Giunti, P.
Brais, B.
Houlden, H.
Schols, L.
Strupp, M.
Cortese, A.
Synofzik, M.
MOVEMENT DISORDERS, 2023, 38 : S313 - S313
[2] Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
Pellerin, David
Wilke, Carlo
Traschuetz, Andreas
Nagy, Sara
Curro, Riccardo
Dicaire, Marie-Josee
Garcia-Moreno, Hector
Anheim, Mathieu
Wirth, Thomas
Faber, Jennifer
Timmann, Dagmar
Depienne, Christel
Rujescu, Dan
Gazulla, Jose
Reilly, Mary M.
Giunti, Paola
Brais, Bernard
Houlden, Henry
Schoels, Ludger
Strupp, Michael
Cortese, Andrea
Synofzik, Matthis
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2024, 95 (02) : 175 - 179
[3] Deep intronic FGF14 GAA repeat expansion is a frequent cause of Episodic Ataxia in Italian patients
Sarto, Elisa
Di Bella, Daniela
Magri, Stefania
Nanetti, Lorenzo
Fenu, Silvia
Fichera, Mario
Salsano, Ettore
Pareyson, Davide
Gellera, Cinzia
Mariotti, Caterina
Taroni, Franco
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 507 - 507
[4] The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population
Livanos, Ioannis
Votsi, Christina
Michailidou, Kyriaki
Pellerin, David
Brais, Bernard
Zuchner, Stephan
Pantzaris, Marios
Kleopa, Kleopas A.
Papanicolaou, Eleni Zamba
Christodoulou, Kyproula
BRAIN COMMUNICATIONS, 2025, 7 (01)
[5] Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Zeng, Yi-Heng
Gan, Shi-Rui
Chen, Wan-Jin
NEW ENGLAND JOURNAL OF MEDICINE, 2023, 388 (21)
[6] Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Pellerin, D.
Danzi, M. C.
Wilke, C.
Renaud, M.
Fazal, S.
Dicaire, M. -J
Scriba, C. K.
Ashton, C.
Yanick, C.
Beijer, D.
Rebelo, A.
Rocca, C.
Jaunmuktane, Z.
Sonnen, J. A.
Lariviere, R.
Genis, D.
Porcel, L. Molina
Choquet, K.
Sakalla, R.
Provost, S.
Robertson, R.
Allard-Chamard, X.
Tetreault, M.
Reiling, S. J.
Nagy, S.
Nishadham, V
Purushottam, M.
Vengalil, S.
Bardhan, M.
Nalini, A.
Chen, Z.
Mathieu, J.
Massie, R.
Chalk, C. H.
Lafontaine, A. -L
Evoy, F.
Rioux, M. -F
Ragoussis, J.
Boycott, K. M.
Dube, M. -P
Duquette, A.
Houlden, H.
Ravenscroft, G.
Laing, N. G.
Lamont, P. J.
Saporta, M. A.
Schuele, R.
Schoels, L.
La Piana, R.
Synofzik, M.
NEW ENGLAND JOURNAL OF MEDICINE, 2023, 388 (02) : 128 - 141
[7] A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia
Pellerin, David
Danzi, Matt
Wilke, Carlo
Renaud, Mathilde
Fazal, Sarah
Dicaire, Marie-Josee
Scribah, Carolin
Ashton, Catherine
Genis, David
Porcel, Laura Molina
Nagy, Sara
Nalini, Atchayaram
Boycott, Kym
Duquette, Antoine
Houlden, Henry
Ravenscroft, Gianina
Laing, Nigel
Lamont, Phillipa
Schoels, Ludger
La Piana, Roberta
Synofzik, Matthis
Zuchner, Stephan
Brais, Bernard
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455
[8] Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN
Gerhart, Brandon J.
Pellerin, David
Danzi, Matt C.
Zuchner, Stephan
Brais, Bernard
Matos-Rodrigues, Gabriel
Nussenzweig, Andre
Usdin, Karen
Park, Courtney C.
Napierala, Jill S.
Lynch, David R.
Napierala, Marek
NEUROLOGY-GENETICS, 2024, 10 (06)
[9] Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan
Ando, Masahiro
Higuchi, Yujiro
Yuan, Junhui
Yoshimura, Akiko
Kojima, Fumikazu
Yamanishi, Yuki
Aso, Yasuhiro
Izumi, Kotaro
Imada, Minako
Maki, Yoshimitsu
Nakagawa, Hiroto
Hobara, Takahiro
Noguchi, Yutaka
Takei, Jun
Hiramatsu, Yu
Nozuma, Satoshi
Sakiyama, Yusuke
Hashiguchi, Akihiro
Matsuura, Eiji
Okamoto, Yuji
Takashima, Hiroshi
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2024, 11 (01): : 96 - 104
[10] Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
Mereaux, Jean-Loup
Davoine, Claire-Sophie
Pellerin, David
Coarelli, Giulia
Coutelier, Marie
Ewenczyk, Claire
Monin, Marie -Lorraine
Anheim, Mathieu
Le Ber, Isabelle
Thobois, Stephane
Gobert, Florent
Guillot-Noel, Lena
Forlani, Sylvie
Jornea, Ludmila
Heinzmann, Anna
Sangare, Aude
Gaymard, Bertrand
Guyant-Marechal, Lucie
Charles, Perrine
Marelli, Cecilia
Honnorat, Jerome
Degos, Bertrand
Tison, Francois
Sangla, Sophie
Simonetta-Moreau, Marion
Salachas, Francois
Tchikviladze, Maya
Castelnovo, Giovanni
Mochel, Fanny
Klebe, Stephan
Castrioto, Anna
Fenu, Silvia
Meneret, Aurelie
Bourdain, Frederic
Wandzel, Marion
Roth, Virginie
Bonnet, Celine
Riant, Florence
Stevanin, Giovanni
Noel, Sandrine
Fauret-Amsellem, Anne-Laure
Bahlo, Melanie
Lockhart, Paul J.
Brais, Bernard
Renaud, Mathilde
Brice, Alexis
Durra, Alexandra
EBIOMEDICINE, 2024, 99

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