SCA27B FGF14

Zhongbo,Chen, Huw R,Morris, James,Polke, Nicholas W,Wood, Sonia,Gandhi, Mina,Ryten, Henry,Houlden, Arianna,Tucci

Involvement of the Superior Cerebellar Peduncles in GAA- <i>FGF14</i> Ataxia

Shihan,Chen, Catherine,Ashton, Rawan,Sakalla, Guillemette,Clement, Sophie,Planel, Céline,Bonnet, Phillipa J.,Lamont, Karthik,Kulanthaivelu, Atchayaram,Nalini, Henry,Houlden, Antoine,Duquette, Marie-Josée,Dicaire, Pablo,Iruzubieta Agudo, Javier,Ruiz-Martinez, Enrique,Marco De Lucas, Rodrigo,Sutil Berjon, Jon,Infante Ceberio, Elisabetta,Indelicato, Sylvia M.,Boesch, Matthis,Synofzik, Benjamin,Bender, Matt C.,Danzi, Stephan,Zuchner, David,Pellerin, Bernard,Brais, Mathilde,Renaud, Roberta,La Piana

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese

Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.

Sara,Satolli, Salvatore,Rossi, Elisa,Vegezzi, David,Pellerin, Maria Laura,Manca, Melissa,Barghigiani, Carla,Battisti, Giusi,Bilancieri, Giorgia,Bruno, Elena,Capacci, Carlo,Casali, Roberto,Ceravolo, Sirio,Cocozza, Stefano,Cotti Piccinelli, Chiara,Criscuolo, Matt C,Danzi, Rosa,De Micco, Giuseppe,De Michele, Marie-Josée,Dicaire, Grazia Maria Igea,Falcone, Roberto,Fancellu, Yasmine,Ferchichi, Camilla,Ferrari, Alessandro,Filla, Nicola,Fini, Alessandra,Govoni, Filomena,Lo Vecchio, Alessandro,Malandrini, Andrea,Mignarri, Olimpia,Musumeci, Claudia,Nesti, Sabina,Pappatà, Maria Teresa,Pellecchia, Alessia,Perna, Antonio,Petrucci, Maria Grazia,Pomponi, Roberta,Ravenni, Ivana,Ricca, Alessandra,Rufa, Elisabetta,Tabolacci, Alessandra,Tessa, Alessandro,Tessitore, Stephan,Zuchner, Gabriella,Silvestri, Andrea,Cortese, Bernard,Brais, Filippo M,Santorelli

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.

Haloom,Rafehi, Justin,Read, David J,Szmulewicz, Kayli C,Davies, Penny,Snell, Liam G,Fearnley, Liam,Scott, Mirja,Thomsen, Greta,Gillies, Kate,Pope, Mark F,Bennett, Jacob E,Munro, Kathie J,Ngo, Luke,Chen, Mathew J,Wallis, Ernest G,Butler, Kishore R,Kumar, Kathy Hc,Wu, Susan E,Tomlinson, Stephen,Tisch, Abhishek,Malhotra, Matthew,Lee-Archer, Egor,Dolzhenko, Michael A,Eberle, Leslie J,Roberts, Brent L,Fogel, Norbert,Brüggemann, Katja,Lohmann, Martin B,Delatycki, Melanie,Bahlo, Paul J,Lockhart

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).

Widad,Abou Chaar, Anirudh N,Eranki, Hannah A,Stevens, Sonya L,Watson, Darice Y,Wong, Veronica S,Avila, Megan,Delfeld, Alexander J,Gary, Sanjukta,Tawde, Malia,Triebold, Marcello,Cherchi, Tao,Xie, Paul J,Lockhart, Melanie,Bahlo, David,Pellerin, Marie-Josée,Dicaire, Matt,Danzi, Stephan,Zuchner, Bernard C,Brais, Susan,Perlman, Margit,Burmeister, Henry,Paulson, Sharan,Srinivasan, Lawrence,Schut, Matthew,Bower, Khalaf,Bushara, Chuanhong,Liao, Vikram G,Shakkottai, John,Collins, H Brent,Clark, Soma,Das, Brent L,Fogel, Christopher M,Gomez

David,Pellerin, Carlo,Wilke, Andreas,Traschütz, Sara,Nagy, Riccardo,Currò, Marie-Josée,Dicaire, Hector,Garcia-Moreno, Mathieu,Anheim, Thomas,Wirth, Jennifer,Faber, Dagmar,Timmann, Christel,Depienne, Dan,Rujescu, José,Gazulla, Mary M,Reilly, Paola,Giunti, Bernard,Brais, Henry,Houlden, Ludger,Schöls, Michael,Strupp, Andrea,Cortese, Matthis,Synofzik

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Lars,Mohren, Friedrich,Erdlenbruch, Elsa,Leitão, Fabian,Kilpert, G Sebastian,Hönes, Sabine,Kaya, Christopher,Schröder, Andreas,Thieme, Marc,Sturm, Joohyun,Park, Agatha,Schlüter, Montserrat,Ruiz, Moisés,Morales de la Prida, Carlos,Casasnovas, Kerstin,Becker, Ulla,Roggenbuck, Sonali,Pechlivanis, Frank J,Kaiser, Matthis,Synofzik, Thomas,Wirth, Mathieu,Anheim, Tobias B,Haack, Paul J,Lockhart, Karl-Heinz,Jöckel, Aurora,Pujol, Stephan,Klebe, Dagmar,Timmann, Christel,Depienne

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

Laura Ivete,Rudaks, Igor,Stevanovski, Dennis,Yeow, Andre L M,Reis, Sanjog R,Chintalaphani, Pak Leng,Cheong, Hasindu,Gamaarachchi, Lisa,Worgan, Kate,Ahmad, Michael,Hayes, Andrew,Hannaford, Samuel,Kim, Victor S C,Fung, Gabor M,Halmagyi, Andrew,Martin, David,Manser, Michel,Tchan, Karl,Ng, Marina L,Kennerson, Ira W,Deveson, Kishore Raj,Kumar

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

David,Pellerin, Giulia F,Del Gobbo, Madeline,Couse, Egor,Dolzhenko, Sathiji K,Nageshwaran, Warren A,Cheung, Isaac R L,Xu, Marie-Josée,Dicaire, Guinevere,Spurdens, Gabriel,Matos-Rodrigues, Igor,Stevanovski, Carolin K,Scriba, Adriana,Rebelo, Virginie,Roth, Marion,Wandzel, Céline,Bonnet, Catherine,Ashton, Aman,Agarwal, Cyril,Peter, Dan,Hasson, Nadejda M,Tsankova, Ken,Dewar, Phillipa J,Lamont, Nigel G,Laing, Mathilde,Renaud, Henry,Houlden, Matthis,Synofzik, Karen,Usdin, Andre,Nussenzweig, Marek,Napierala, Zhao,Chen, Hong,Jiang, Ira W,Deveson, Gianina,Ravenscroft, Schahram,Akbarian, Michael A,Eberle, Kym M,Boycott, Tomi,Pastinen, Bernard,Brais, Stephan,Zuchner, Matt C,Danzi

Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population.

Toshiyuki,Kakumoto, Kenta,Orimo, Takashi,Matsukawa, Jun,Mitsui, Tomohiko,Ishihara, Osamu,Onodera, Yuta,Suzuki, Shinichi,Morishita, Tatsushi,Toda, Shoji,Tsuji

David,Pellerin, Matt C,Danzi, Carlo,Wilke, Mathilde,Renaud, Sarah,Fazal, Marie-Josée,Dicaire, Carolin K,Scriba, Catherine,Ashton, Christopher,Yanick, Danique,Beijer, Adriana,Rebelo, Clarissa,Rocca, Zane,Jaunmuktane, Joshua A,Sonnen, Roxanne,Larivière, David,Genís, Laura,Molina Porcel, Karine,Choquet, Rawan,Sakalla, Sylvie,Provost, Rebecca,Robertson, Xavier,Allard-Chamard, Martine,Tétreault, Sarah J,Reiling, Sara,Nagy, Vikas,Nishadham, Meera,Purushottam, Seena,Vengalil, Mainak,Bardhan, Atchayaram,Nalini, Zhongbo,Chen, Jean,Mathieu, Rami,Massie, Colin H,Chalk, Anne-Louise,Lafontaine, François,Evoy, Marie-France,Rioux, Jiannis,Ragoussis, Kym M,Boycott, Marie-Pierre,Dubé, Antoine,Duquette, Henry,Houlden, Gianina,Ravenscroft, Nigel G,Laing, Phillipa J,Lamont, Mario A,Saporta, Rebecca,Schüle, Ludger,Schöls, Roberta,La Piana, Matthis,Synofzik, Stephan,Zuchner, Bernard,Brais

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

Haloom,Rafehi, Justin,Read, David J,Szmulewicz, Kayli C,Davies, Penny,Snell, Liam G,Fearnley, Liam,Scott, Mirja,Thomsen, Greta,Gillies, Kate,Pope, Mark F,Bennett, Jacob E,Munro, Kathie J,Ngo, Luke,Chen, Mathew J,Wallis, Ernest G,Butler, Kishore R,Kumar, Kathy Hc,Wu, Susan E,Tomlinson, Stephen,Tisch, Abhishek,Malhotra, Matthew,Lee-Archer, Egor,Dolzhenko, Michael A,Eberle, Leslie J,Roberts, Brent L,Fogel, Norbert,Brüggemann, Katja,Lohmann, Martin B,Delatycki, Melanie,Bahlo, Paul J,Lockhart

First Report of Co-Occurring FGF14 (SCA27B) and RFC1 (CANVAS) Repeat Expansions in Two of Three Siblings with Late-Onset Cerebellar Ataxia.

Tasos,Tsokkos, Kyproula,Christodoulou, Christina,Votsi, Anthi,Georghiou, Andrea,Christofides, Astero,Constantinou, Eleni,Zamba-Papanicolaou

Clinical characteristics, cerebellar MR spectroscopy and response to 3,4-diaminopyridine in spinocerebellar ataxia 27B: the Sheffield Ataxia Centre experience.

Ikechukwu,Chukwuocha, David,Pellerin, Priya,Shanmugarajah, Theocharis,Tsironis, Emma,Foster, Nigel,Hoggard, Nick,Beauchamp, Lauren,Turton, Alisdair,McNeill, Bernard,Brais, Marios,Hadjivassiliou

Video head impulse test differentiates RFC1-CANVAS, FGF14-SCA27B, and idiopathic late-onset cerebellar ataxias.

Leonardo E,Ariello, Daniel R,Gold, Jennifer L,Millar, Michael C,Schubert, Weiyi,Mu, Liana,Rosenthal, David P W,Rastall

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Pablo,Iruzubieta, David,Pellerin, Catherine,Ashton, Felipe,Villa, Mathilde,Renaud, Marie-Josée,Dicaire, Matt C,Danzi, Mayra,Aldecoa, Jean,Mathieu, Rami,Massie, Colin H,Chalk, Anne-Louise,Lafontaine, François,Evoy, Marie-France,Rioux, Jean-Denis,Brisson, Kym M,Boycott, Henry,Houlden, Matthis,Synofzik, Roberta,La Piana, Stephan,Zuchner, Antoine,Duquette, Bernard,Brais

Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework.

Leonardo Eleuterio,Ariello, Daniel R,Gold, Weiyi,Mu, Michael C,Schubert, Claire,Allen, Ashley,Paul, David P W,Rastall

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Hannes,Erdmann, Annalisa,Schaub, Morghan C,Lucas, Veronika,Scholz, Anna,Benet-Pages, Kerstin,Becker, Christine,Dineiger, Veronika,Mayer, Inga,van Buren, Eva,Breithausen, Karl,Akbari, Isabell,Cordts, Mayra,Sauer, Christine,Schneider, Rosanna,Krakowsky, Franziska,Schnabel, Konstanze,Dunker, Lena,Fabritius, Johannes,Gerb, Denis,Grabova, Ken,Möhwald, Marius,Näher, Karoline,Steinmetz, Franziska,Thiessen, Alexander,Jäck, Christiane,Schneider-Gold, Simone,Zittel, Christina,Petersen, Isolde,Schreyer, Larissa,Mämecke, Sibylle,Wilfling, Gilbert,Wunderlich, David,Brenner, Yorck,Hellenbroich, Kirsten,Muhle, Tessa,Huchtemann, Inga,Claus, Thomas,Klopstock, Michael,Strupp, Johannes,Levin, Günter,Höglinger, Doreen,Huppert, Sandra,Becker-Bense, Filipp,Filippopulos, Fabian,Kilpert, Elsa,Leitão, Sabine,Kaya, Christel,Depienne, Florian,Schöberl, Teresa,Neuhann, Elke,Holinski-Feder, Andreas,Zwergal, Angela,Abicht

Fulya,Akçimen, Kensuke,Daida, Lara M,Lange, Abraham,Moller, Abigail,Miano-Burkhardt, Laksh,Malik, Kimberly,Paquette, Pilar Alvarez,Jerez, Jackson,Mingle, Breeana,Baker, Melissa,Meredith, Cedric,Kouam, Paige,Jarreau, Androo,Markham, Jessica,Anderson, Miten,Jain, Mark,Chaisson, Mark,Cookson, Bradford,Casey, Hirotaka,Iwaki, Sara,Bandres-Ciga, Paula,Saffie-Awad, Mike,Nalls, Zih-Hua,Fang, Andrew B,Singleton, Cornelis,Blauwendraat, Kimberley J,Billingsley

GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.

Elisabetta,Indelicato, Zofia,Fleszar, David,Pellerin, Wolfgang,Nachbauer, Stephan,Zuchner, Andreas,Traschütz, Matthias,Amprosi, Ludger,Schöls, Tobias B,Haack, Bernard,Brais, Sylvia,Boesch, Matthis,Synofzik

Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?

Pannaga,Prasad G, Aleksandra,Makarova, Kandasamy,Kathirvel, Suleyman,Gulsuner, Tomas,Walsh, Shreevidya,Parthaje, Chinu,Patra, Bhagyalakshmi,Shankarappa, Shridhar,Utagi, Vaishnavi,Desai, Vikram,Holla, Nitish,Kamble, Ravi,Yadav, Atchayaram,Nalini, Biju,Viswanath, Marie-Claire,King, Sanjeev,Jain, Pramod Kumar,Pal, Meera,Purushottam