Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ et al (2023) Deep Intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N Engl J Med 388(2):128–141

Article  CAS  PubMed  Google Scholar 

Pellerin D, Danzi MC, Renaud M, Houlden H, Synofzik M, Zuchner S et al (2024) Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. Clin Transl Med. https://doi.org/10.1002/ctm2.1504

Article  PubMed  PubMed Central  Google Scholar 

Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C et al (2024) Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine 99:104931

Article  PubMed  Google Scholar 

Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ et al (2023) GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain 146(10):4144–4157

Article  PubMed  Google Scholar 

Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A et al (2023) Natural history and phenotypic spectrum of GAA-FGF14 sporadic late-onset cerebellar ataxia (SCA27B). Mov Disord 38(10):1950–1956

Article  CAS  PubMed  Google Scholar 

Chen S, Ashton C, Sakalla R, Clement G, Planel S, Bonnet C et al (2024) Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy. Medrxiv 388:128

Google Scholar 

Wenning GK, Stankovic I, Vignatelli L, Fanciulli A, Calandra-Buonaura G, Seppi K et al (2022) The movement disorder society criteria for the diagnosis of multiple system atrophy. Mov Disord 37:1131–1148 (John Wiley and Sons Inc)

Article  PubMed  PubMed Central  Google Scholar 

Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O et al (2021) Ngs in hereditary ataxia: when rare becomes frequent. Int J Mol Sci. https://doi.org/10.3390/ijms22168490

Article  PubMed  PubMed Central  Google Scholar 

Torella A, Ricca I, Piluso G, Galatolo D, De Michele G, Zanobio M et al (2023) A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A. J Neurol 270(10):5057–5063

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M et al (2023) Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis. Brain 146(12):5060–5069

Article  PubMed  PubMed Central  Google Scholar 

Schmitz-Hübsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C et al (2006) Scale for the assessment and rating of ataxia. Neurology 66(11):1717–1720

Article  PubMed  Google Scholar 

Lynch DR, Farmer JM, Tsou AY, Perlman S, Subramony SH, Gomez CM et al (2006) Measuring Friedreich ataxia. Neurology 66(11):1711–1716

Article  CAS  PubMed  Google Scholar 

Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG et al (2023) An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. Am J Hum Genet 110(1):105–119

Article  CAS  PubMed  Google Scholar 

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

Article  PubMed  PubMed Central  Google Scholar 

Hengel H, Pellerin D, Wilke C, Fleszar Z, Brais B, Haack T et al (2023) As Frequent as polyglutamine spinocerebellar ataxias: SCA27B in a large German autosomal dominant ataxia cohort. Mov Disord 38:1557–1558 (John Wiley and Sons Inc)

Article  CAS  PubMed  Google Scholar 

Ashton C, Indelicato E, Pellerin D, Clément G, Danzi MC, Dicaire MJ et al (2023) Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients, vol 5. Oxford University Press, Brain Communications

Google Scholar 

Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C et al (2024) GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort. EBioMedicine 102:105076

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jiménez-Huete A, Patiño-García A, Guillén EF, Porta JM, Martin-Bastida A, Suárez-Vega V et al (2023) Brain 18F-FDG PET findings and sequential vestibular testing in SCA27B: a case report. J Neurol. https://doi.org/10.1007/s00415-023-12032-2. (Springer Science and Business Media Deutschland GmbH)

Article  PubMed  Google Scholar 

Iruzubieta P, Pellerin D, Bergareche A, Albajar I, Mondragón E, Vinagre 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

Article  PubMed  Google Scholar 

Kartanou C, Mitrousias A, Pellerin D, Kontogeorgiou Z, Iruzubieta P, Dicaire MJ 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. https://doi.org/10.1111/cge.14482

Article  PubMed  Google Scholar 

Novis LE, Frezatti RS, Pellerin D, Tomaselli PJ, Alavi S, Della Coleta MV et al (2023) Frequency of GAA- FGF14 ataxia in a large cohort of Brazilian patients with unsolved adult-onset cerebellar ataxia. Neurol Genet. https://doi.org/10.1212/NXG.0000000000200094

Article  PubMed  PubMed Central  Google Scholar 

Wirth T, Bonnet C, Delvallée C, Pellerin D, Bogdan T, Clément G et al (2024) Does spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy? J Neurol. https://doi.org/10.1007/s00415-024-12182-x

Article  PubMed  Google Scholar 

Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, et al (2023) Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response. medRxiv [Internet]. Available from: http://www.ncbi.nlm.nih.gov/pubmed/37577458

Seemann J, Traschütz A, Ilg W, Synofzik M (2023) 4-Aminopyridine improves real-life gait performance in SCA27B on a single-subject level: a prospective n-of-1 treatment experience. J Neurol 270:5629–5634

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shirai S, Mizushima K, Fujiwara K, Koshimizu E, Matsushima M, Miyatake S et al (2023) Case series: downbeat nystagmus in SCA27B. J Neurol Sci 15:454

Google Scholar 

Foucard C, Belley M, Sangare A, Bonnet C, Renaud M, Roze E (2024) Paroxysmal ataxia. Neurol Genet. https://doi.org/10.1212/NXG.0000000000200118

Article  PubMed  Google Scholar 

Hoshina Y, Wright MA, Warner JEA, Richards T, Salzman KL, Pulst SM et al (2023) Pearls & Oy-sters: ATX-FGF14 mimicking autoimmune pathology. Neurology 101(14):E1478–E1482

Article  CAS  PubMed  Google Scholar 

Pellerin D, Wilke C, Traschütz A, Nagy S, Currò R, Dicaire MJ et al (2023) Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. J Neurol Neurosurg Psychiatry. https://doi.org/10.1016/j.jns.2023.121185

Article  Google Scholar 

Paucar M, Lundin J, Alshammari T, Bergendal Å, Lindefeldt M, Alshammari M et al (2020) Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27. J Intern Med 288(1):103–115

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ngai S, Tang YM, Du L, Stuckey S (2006) Hyperintensity of the middle cerebellar peduncles on fluid-attenuated inversion recovery imaging: variation with age and implications for the diagnosis of multiple system atrophy. AJNR Am J Neuroradiol 27(10):2146–2148

CAS  PubMed  PubMed Central  Google Scholar 

Bosch MK, Carrasquillo Y, Ransdell JL, Kanakamedala A, Ornitz DM, Nerbonne JM (2015) Intracellular FGF14 (iFGF14) is required for spontaneous and evoked firing in cerebellar purkinje neurons and for motor coordination and balance. J Neurosci 35(17):6752–6769

Article  CAS  PubMed  PubMed Central  Google Scholar 

Di RJ, Wadsworth PA, Laezza F (2017) Intracellular fibroblast growth factor 14: emerging risk factor for brain disorders. Front Cell Neurosci 19:11