Abou Chaar W, Eranki AN, Stevens HA et al (2024) Clinical, radiological and pathological features of a large American Cohort of Spinocerebellar Ataxia (SCA27B). Ann Neurol 96(6):1092–1103. https://doi.org/10.1002/ana.27060

Article  CAS  PubMed  Google Scholar 

Ando M, Higuchi Y, Yuan J et al (2024) Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan. Ann Clin Transl Neurol 11(1):96–104. https://doi.org/10.1002/acn3.51936

Article  CAS  PubMed  Google Scholar 

Ashton C, Indelicato E, Pellerin D et al (2023) Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients. Brain Commun 5(5):fcad239. https://doi.org/10.1093/braincomms/fcad239

Article  CAS  PubMed  PubMed Central  Google Scholar 

Baldarçara L, Currie S, Hadjivassiliou M et al (2015) Consensus paper: radiological biomarkers of cerebellar diseases. Cerebellum 14(2):175–196. https://doi.org/10.1007/s12311-014-0610-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bonnet C, Pellerin D, Roth V et al (2023) Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B. Sci Rep 13(1):9737. https://doi.org/10.1038/s41598-023-36654-8

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brais B, Pellerin D, Danzi MC (2023) Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. Reply N Engl J Med 388(21):e70. https://doi.org/10.1056/NEJMc2301605

Article  PubMed  Google Scholar 

Chen S, Ashton C, Sakalla R, et al (2024) Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy. medRxiv [Preprint]: 2024.02.16.24302945, https://doi.org/10.1101/2024.02.16.24302945.

De T, Sharma P, Upilli B et al (2024) Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin. Neurogenetics 25(4):393–403. https://doi.org/10.1007/s10048-024-00770-y

Article  CAS  PubMed  Google Scholar 

Foucard C, Belley M, Sangare A et al (2023) Paroxysmal Ataxia: a characteristic feature of FGF14 repeat expansion (SCA27B). Neurol Genet 10(1):e200118. https://doi.org/10.1212/NXG.000000000020011

Article  PubMed  PubMed Central  Google Scholar 

Gerhart BJ, Pellerin D, Danzi MC et al (2024) Assessment of the clinical interactions of GAA repeat expansions in FGF14 and FXN. Neurol Genet 10(6):e200210. https://doi.org/10.1212/NXG.0000000000200210

Article  CAS  PubMed  PubMed Central  Google Scholar 

Halstuk O, Dayan R, Silverstein S et al (2024) Low prevalence of SCA27B in adult-onset cerebellar ataxia cohort of Jewish ancestry. Parkinsonism Relat Disord 126:107067. https://doi.org/10.1016/j.parkreldis.2024.107067

Article  CAS  PubMed  Google Scholar 

Hengel H, Pellerin D, Wilke C et al (2023) As frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a large German Autosomal Dominant Ataxia cohort. Mov Disord 38(8):1557–1558. https://doi.org/10.1002/mds.29559

Article  CAS  PubMed  Google Scholar 

Iruzubieta P, Pellerin D, Bergareche A et al (2023) Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. Eur J Neurol 30(12):3828–3833. https://doi.org/10.1111/ene.16039

Article  PubMed  Google Scholar 

Jacobi H, du Montcel ST, Bauer P et al (2015) Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol 14(11):1101–1108. https://doi.org/10.1016/S1474-4422(15)00202-1

Article  PubMed  Google Scholar 

Kakumoto T, Orimo K, Matsukawa T et al (2024) Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population. Eur J Hum Genet. https://doi.org/10.1038/s41431-024-01743-3

Article  PubMed  PubMed Central  Google Scholar 

Kartanou C, Mitrousias A, Pellerin D et al (2024) The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations. Clin Genet 105(4):446–452. https://doi.org/10.1111/cge.14482

Article  CAS  PubMed  Google Scholar 

Long A, Napierala JS, Polak U et al (2017) Somatic instability of the expanded GAA repeats in Friedreich’s ataxia. PLoS ONE 12(12):e0189990. https://doi.org/10.1371/journal.pone.0189990

Article  CAS  PubMed  PubMed Central  Google Scholar 

Livanos I, Votsi C, Michailidou K et al (2025) The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population. Brain Commun 7(1):fcae479. https://doi.org/10.1093/braincomms/fcae479

Article  PubMed  PubMed Central  Google Scholar 

Lopergolo D, Bargagli A, Satolli S et al (2024) Oculomotor features in SCA27B patients. Clin Neurophysiol 158:56–58. https://doi.org/10.1016/j.clinph.2023.12.010

Article  PubMed  Google Scholar 

Méreaux JL, Davoine CS, Pellerin D et al (2024) Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine 99:104931. https://doi.org/10.1016/j.ebiom.2023.104931

Article  CAS  PubMed  Google Scholar 

Mendes Ferreira V, Magriço M, Meira B et al (2024) Spinocerebellar Ataxia Type 27B (SCA27B): a hereditary ataxia in Portugal. Acta Med Port. https://doi.org/10.20344/amp.22232

Article  PubMed  Google Scholar 

Milovanović A, Dragaševic-Mišković N, Thomsen M et al (2024) RFC1 and FGF14 repeat expansions in Serbian patients with cerebellar ataxia. Mov Disord Clin Pract 11(6):626–633. https://doi.org/10.1002/mdc3.14020

Article  PubMed  PubMed Central  Google Scholar 

Mitrotti P, Vegezzi E, Zangaglia R et al (2024) Bilateral dentate nuclei hyperintensities and response to 4-Aminopyridine in a patient with childhood-onset GAA-FGF14-Related Ataxia. Neurol Genet 10(6):e200208. https://doi.org/10.1212/NXG.0000000000200208

Article  PubMed  PubMed Central  Google Scholar 

Miyatake S, Doi H, Yaguchi H et al (2024) Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese. J Neurol Neurosurg Psychiatry 95(12):1187–1195. https://doi.org/10.1136/jnnp-2024-333541

Article  PubMed  Google Scholar 

Moher D, Shamseer L, Clarke M et al (2015) Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015 statement. Syst Rev 4(1):1. https://doi.org/10.1186/2046-4053-4-1

Article  PubMed  PubMed Central  Google Scholar 

Mohren L, Erdlenbruch F, Leitão E et al (2024) Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions. Nat Commun 15(1):7665. https://doi.org/10.1038/s41467-024-52148-1

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ngo KJ, Rexach JE, Lee H et al (2020) A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat 41(2):487–501. https://doi.org/10.1002/humu.23946

Article  CAS  PubMed  Google Scholar 

Novis LE, Frezatti RS, Pellerin D et al (2023) Frequency of GAA-FGF14 Ataxia in a large cohort of Brazilian patients with unsolved adult-onset cerebellar ataxia. Neurol Genet 9(5):e200094. https://doi.org/10.1212/NXG.0000000000200094

Article  PubMed  PubMed Central  Google Scholar 

Ouyang R, Wan L, Pellerin D et al (2024) The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study. EBioMedicine 102:105077. https://doi.org/10.1016/j.ebiom.2024.105077

Article  CAS  PubMed  PubMed Central