267343 20240403131601.0 10.1002/ctm2.1504 doi pmid:38279833 pmid pmc:PMC10819088 pmc altmetric:158969816 altmetric DZNE-2024-00107 English 610 Pellerin, David 0 Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. Hoboken, NJ 2024 Wiley article DRIVER Output Types/Journal article DataCite Journal Article journal journal PUB:(DE-HGF)16 1707381782_9358 PUB:(DE-HGF) Review Article ARTICLE BibTeX JOURNAL_ARTICLE ORCID Journal Article 0 EndNote Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. Currently, up to 75% of such patients remain without a genetic diagnosis. In an era of emerging disease-modifying gene-stratified therapies, the identification of causative alleles has become increasingly important. 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. SCA27B is rapidly gaining recognition as one of the most common forms of adult-onset hereditary ataxia, with several studies showing that it accounts for a substantial number (9-61%) of previously undiagnosed cases from different cohorts. First natural history studies and multiple reports have already outlined the progression and core phenotype of this novel disease, which consists of a late-onset slowly progressive pan-cerebellar syndrome that is frequently associated with cerebellar oculomotor signs, such as downbeat nystagmus, and episodic symptoms. Furthermore, preliminary studies in patients with SCA27B have shown promising symptomatic benefits of 4-aminopyridine, an already marketed drug. This review describes the current knowledge of the genetic and molecular basis, epidemiology, clinical features and prospective treatment strategies in SCA27B. 353 - Clinical and Health Care Research (POF4-353) G:(DE-HGF)POF4-353 POF4-353 POF IV 0 Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de 4-aminopyridine Other FGF14 Other GAA-FGF14 ataxia Other cerebellar ataxia Other genetics Other repeat expansion disorder Other therapy Other Adult MeSH Humans MeSH Spinocerebellar Ataxias: diagnosis MeSH Spinocerebellar Ataxias: drug therapy MeSH Spinocerebellar Ataxias: genetics MeSH Ataxia: complications MeSH Phenotype MeSH Danzi, Matt C 1 Renaud, Mathilde 2 Houlden, Henry 3 Synofzik, Matthis P:(DE-2719)2811275 4 dzne Zuchner, Stephan 5 Brais, Bernard 0000-0003-1394-3561 6 10.1002/ctm2.1504 Vol. 14, no. 1, p. e1504 PERI:(DE-600)2697013-2 1 e1504 Clinical and translational medicine 14 2024 2001-1326 OpenAccess http://pub.dzne.de/record/267343/files/DZNE-2024-00107.pdf OpenAccess pdfa http://pub.dzne.de/record/267343/files/DZNE-2024-00107.pdf?subformat=pdfa oai:pub.dzne.de:267343 openaire open_access VDB driver dnbdelivery Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 4 P:(DE-2719)2811275 DE-HGF Gesundheit Neurodegenerative Diseases G:(DE-HGF)POF4-350 G:(DE-HGF)POF4-353 G:(DE-HGF)POF4 G:(DE-HGF)POF4-300 G:(DE-HGF)POF Clinical and Health Care Research 0 2024 DBCoverage StatID:(DE-HGF)0200 StatID SCOPUS 2023-10-26 DBCoverage StatID:(DE-HGF)0160 StatID Essential Science Indicators 2023-10-26 DBCoverage StatID:(DE-HGF)1030 StatID Current Contents - Life Sciences 2023-10-26 Creative Commons Attribution CC BY 4.0 LIC:(DE-HGF)CCBY4 HGFVOC DBCoverage StatID:(DE-HGF)0600 StatID Ebsco Academic Search 2023-10-26 JCR StatID:(DE-HGF)0100 StatID CLIN TRANSL MED : 2022 2023-10-26 IF >= 10 StatID:(DE-HGF)9910 StatID CLIN TRANSL MED : 2022 2023-10-26 DBCoverage StatID:(DE-HGF)0501 StatID DOAJ Seal 2020-06-08T15:16:46Z DBCoverage StatID:(DE-HGF)0500 StatID DOAJ 2020-06-08T15:16:46Z WoS StatID:(DE-HGF)0113 StatID Science Citation Index Expanded 2023-10-26 Fees StatID:(DE-HGF)0700 StatID 2023-10-26 DBCoverage StatID:(DE-HGF)0150 StatID Web of Science Core Collection 2023-10-26 OpenAccess StatID:(DE-HGF)0510 StatID Peer Review StatID:(DE-HGF)0030 StatID ASC 2023-10-26 Article Processing Charges StatID:(DE-HGF)0561 StatID 2023-10-26 DBCoverage StatID:(DE-HGF)0300 StatID Medline 2023-10-26 DBCoverage StatID:(DE-HGF)0320 StatID PubMed Central 2023-10-26 DBCoverage StatID:(DE-HGF)0199 StatID Clarivate Analytics Master Journal List 2023-10-26 Peer Review StatID:(DE-HGF)0030 StatID DOAJ : Anonymous peer review 2020-06-08T15:16:46Z I:(DE-2719)1210000 AG Gasser Parkinson Genetics 0 journal VDB UNRESTRICTED I:(DE-2719)1210000 FullTexts