| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Vítor Mendes Ferreira, Marta Magriço, Bruna Meira, Raquel Barbos. Spinocerebellar Ataxia Type 27B (SCA27B): A Hereditary Ataxia in Portugal. Acta medica portuguesa. 2024-10-11. PMID:39392764. |
spinocerebellar ataxia type 27b (sca27b) is a recently discovered hereditary disease caused by (gaa)≥250 repeat expansion in the fibroblast growth factor 14 (fgf14) gene, and multiple studies have recognized it as one of the most common causes of autosomal dominant ataxia in the european population. |
2024-10-11 |
2024-10-14 |
Not clear |
| David Pellerin, Jean-Loup Méreaux, Susana Boluda, Matt C Danzi, Marie-Josée Dicaire, Claire-Sophie Davoine, David Genis, Guinevere Spurdens, Catherine Ashton, Jillian M Hammond, Brandon J Gerhart, Viorica Chelban, Phuong U Le, Maryam Safisamghabadi, Christopher Yanick, Hamin Lee, Sathiji K Nageshwaran, Gabriel Matos-Rodrigues, Zane Jaunmuktane, Kevin Petrecca, Schahram Akbarian, André Nussenzweig, Karen Usdin, Mathilde Renaud, Céline Bonnet, Gianina Ravenscroft, Mario A Saporta, Jill S Napierala, Henry Houlden, Ira W Deveson, Marek Napierala, Alexis Brice, Laura Molina Porcel, Danielle Seilhean, Stephan Zuchner, Alexandra Durr, Bernard Brai. Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum. Brain : a journal of neurology. 2024-10-08. PMID:39378335. |
spinocerebellar ataxia 27b (sca27b) is a common autosomal dominant ataxia caused by an intronic gaa•ttc repeat expansion in fgf14. |
2024-10-08 |
2024-10-11 |
Not clear |
| 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 Gome. Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B). Annals of neurology. 2024-09-12. PMID:39263992. |
spinocerebellar ataxia 27b due to gaa repeat expansions in the fibroblast growth factor 14 (fgf14) gene has recently been recognized as a common cause of late-onset hereditary cerebellar ataxia. |
2024-09-12 |
2024-09-14 |
Not clear |
| Tiyasha De, Pooja Sharma, Bharathram Upilli, A Vivekanand, Shreya Bari, Akhilesh Kumar Sonakar, Achal Kumar Srivastava, Mohammed Faru. Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin. Neurogenetics. 2024-07-08. PMID:38976084. |
spinocerebellar ataxia type 27b (sca27b), a recently identified dominantly inherited cerebellar disorder is caused by gaa-repeat expansions in intron 1 of fibroblast growth factor 14 (fgf14). |
2024-07-08 |
2024-07-11 |
Not clear |
| 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 Santorell. Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort. Journal of neurology. 2024-06-17. PMID:38886208. |
autosomal-dominant spinocerebellar ataxia (adca) due to intronic gaa repeat expansion in fgf14 (sca27b) is a recent, relatively common form of late-onset ataxia. |
2024-06-17 |
2024-06-21 |
Not clear |
| Ze-Hong Zheng, Chun-Yan Cao, Bi Cheng, Ru-Ying Yuan, Yi-Heng Zeng, Zhang-Bao Guo, Yu-Sen Qiu, Wen-Qi Lv, Hui Liang, Jin-Lan Li, Wei-Xiong Zhang, Min-Kun Fang, Yu-Hao Sun, Wei Lin, Jing-Mei Hong, Shi-Rui Gan, Ning Wang, Wan-Jin Chen, Gan-Qin Du, Ling Fan. Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia. Journal of human genetics. 2024-06-12. PMID:38866925. |
intronic gaa repeat expansion ([gaa] ≥250) in fgf14 is associated with the late-onset neurodegenerative disorder, spinocerebellar ataxia 27b (sca27b, gaa-fgf14 ataxia). |
2024-06-12 |
2024-06-15 |
Not clear |
| David Pellerin, Matt C Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brai. Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. Clinical and translational medicine. vol 14. issue 1. 2024-01-27. PMID:38279833. |
over the past few years, the implementation of advanced bioinformatics tools and long-read sequencing has allowed the identification of a number of novel repeat expansion disorders, such as the recently described spinocerebellar ataxia 27b (sca27b) caused by a (gaa)•(ttc) repeat expansion in intron 1 of the fibroblast growth factor 14 (fgf14) gene. |
2024-01-27 |
2024-01-30 |
Not clear |
| Chrisoula Kartanou, Alexandros Mitrousias, David Pellerin, Zoi Kontogeorgiou, Pablo Iruzubieta, Marie-Josée Dicaire, Matt C Danzi, Chrysoula Koniari, Konstantinos Athanassopoulos, Marios Panas, Leonidas Stefanis, Stephan Zuchner, Bernard Brais, Henry Houlden, Georgia Karadima, Georgios Koutsi. The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations. Clinical genetics. 2024-01-15. PMID:38221848. |
a pathogenic gaa repeat expansion in the first intron of the fibroblast growth factor 14 gene (fgf14) has been recently identified as the cause of spinocerebellar ataxia 27b (sca27b). |
2024-01-15 |
2024-01-17 |
Not clear |
| Shinichi Shirai, Keiichi Mizushima, Keishi Fujiwara, Eriko Koshimizu, Masaaki Matsushima, Satoko Miyatake, Ikuko Iwata, Hiroaki Yaguchi, Naomichi Matsumoto, Ichiro Yab. Case series: Downbeat nystagmus in SCA27B. Journal of the neurological sciences. vol 454. 2023-10-31. PMID:37907039. |
spinocerebellar ataxia (sca) 27b, first reported in late 2022, is caused by the abnormal expansion of gaa repeats in the first intron of the fgf14 gene, which encodes the fibroblast growth factor 14. |
2023-10-31 |
2023-11-08 |
Not clear |
| Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albajar, Elisabet Mondragón, Ana Vinagre, Roberto Fernández-Torrón, Fermín Moreno, Jon Equiza, David Campo-Caballero, Juan José Poza, Marta Ruibal, Alessandro Formica, Marie-Josée Dicaire, Matt C Danzi, Stephan Zuchner, Ioana Croitoru, Montserrat Ruiz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munain, Javier Ruiz-Martíne. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. European journal of neurology. 2023-08-14. PMID:37578187. |
dominantly inherited gaa repeat expansions in the fibroblast growth factor 14 (fgf14) gene have recently been shown to cause spinocerebellar ataxia 27b (sca27b). |
2023-08-14 |
2023-08-16 |
Not clear |
| Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anais Grosset, Ines Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, Carine Pourié, Natacha Dreumont, Salomé Puisieux, Pablo Iruzubieta, Marie-Josée Dicaire, François Evoy, Marie-France Rioux, Armand Hocquel, Roberta La Piana, Matthis Synofzik, Henry Houlden, Matt C Danzi, Stephan Zuchner, Bernard Brais, Mathilde Renau. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B. Scientific reports. vol 13. issue 1. 2023-06-15. PMID:37322040. |
dominantly inherited gaa repeat expansions in fgf14 are a common cause of spinocerebellar ataxia (gaa-fgf14 ataxia; spinocerebellar ataxia 27b). |
2023-06-15 |
2023-08-14 |
Not clear |
| Carlo Wilke, David Pellerin, David Mengel, Andreas Traschütz, Matt C Danzi, Marie-Josée Dicaire, Manuela Neumann, Holger Lerche, Benjamin Bender, Henry Houlden, Ludger Schöls, Bernard Brais, Matthis Synofzi. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain : a journal of neurology. 2023-05-11. PMID:37165652. |
ataxia due to an autosomal dominant intronic gaa repeat expansion in fgf14 (gaa-fgf14 ataxia, spinocerebellar ataxia 27b [sca27b]) has recently been identified as one of the most common genetic late-onset ataxias. |
2023-05-11 |
2023-08-14 |
Not clear |
| Fabiola Ceroni, Daniel Osborne, Samuel Clokie, Dorine A Bax, Emma J Cassidy, Matt J Dunn, Christopher M Harris, Jay E Self, Nicola K Ragg. Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia. European journal of human genetics : EJHG. 2022-10-07. PMID:36207621. |
we identified a family with early onset nystagmus and additional neurological features carrying a partial duplication of fgf14, a gene associated with spinocerebellar ataxia type 27 (sca27) and episodic ataxia. |
2022-10-07 |
2023-08-14 |
Not clear |
| M Paucar, J Lundin, T Alshammari, Å Bergendal, M Lindefeldt, M Alshammari, G Solders, J Di Re, I Savitcheva, T Granberg, F Laezza, E Iwarsson, P Svenningsso. Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27. Journal of internal medicine. vol 288. issue 1. 2021-02-01. PMID:32112487. |
the goal of this study was to characterize a swedish family with members affected by spinocerebellar ataxia 27 (sca27), a rare autosomal dominant disease caused by mutations in fibroblast growth factor 14 (fgf14). |
2021-02-01 |
2023-08-13 |
Not clear |
| M Schesny, F Joncourt, Alexander A Tarnutze. Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene. Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30607796. |
this report adds important new evidence to previous observations that pathogenic variants in the fgf14 gene may result in variable phenotypes, either in progressive spinocerebellar ataxia (type 27) or in episodic ataxia as in our case. |
2019-12-06 |
2023-08-13 |
Not clear |
| Shiroh Miura, Kengo Kosaka, Ryuta Fujioka, Yusuke Uchiyama, Tomofumi Shimojo, Takuya Morikawa, Azusa Irie, Takayuki Taniwaki, Hiroki Shibat. Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14. European journal of medical genetics. vol 62. issue 3. 2019-03-08. PMID:30017992. |
spinocerebellar ataxia 27 (sca27) is an autosomal dominant sca caused by variants in the fibroblast growth factor 14 (fgf14) gene. |
2019-03-08 |
2023-08-13 |
Not clear |
| Shiroh Miura, Kengo Kosaka, Ryuta Fujioka, Yusuke Uchiyama, Tomofumi Shimojo, Takuya Morikawa, Azusa Irie, Takayuki Taniwaki, Hiroki Shibat. Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14. European journal of medical genetics. vol 62. issue 3. 2019-03-08. PMID:30017992. |
spinocerebellar ataxia 27 with a novel nonsense variant (lys177x) in fgf14. |
2019-03-08 |
2023-08-13 |
Not clear |
| Alfonso Amado, Manuel Oscar Blanco, Alfredo Repáraz-Andrad. Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion. Neuropediatrics. vol 48. issue 2. 2018-05-24. PMID:28192817. |
spinocerebellar ataxia 27: clinical phenotype of twin sisters with fgf14 deletion. |
2018-05-24 |
2023-08-13 |
Not clear |
| Karine Choquet, Roberta La Piana, Bernard Brai. A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. Neurogenetics. vol 16. issue 3. 2016-04-14. PMID:25566820. |
mutations in fgf14 are known to cause spinocerebellar ataxia type 27 (sca27). |
2016-04-14 |
2023-08-13 |
Not clear |
| Marie K Bosch, Yarimar Carrasquillo, Joseph L Ransdell, Ajay Kanakamedala, David M Ornitz, Jeanne M Nerbonn. Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 35. issue 17. 2015-07-21. PMID:25926453. |
mutations in fgf14, which encodes intracellular fibroblast growth factor 14 (ifgf14), have been linked to spinocerebellar ataxia (sca27). |
2015-07-21 |
2023-08-13 |
mouse |