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. 2025 Jul 10;272(8):500.
doi: 10.1007/s00415-025-13234-6.

Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series

Armand Hocquel  1   2 , David Pellerin  3   4   5 , Jean Loup Méreaux  6 , Vincent Huin  7   8 , Marios Hadjivassiliou  9 , Guillemette Clément  1   10 , Felipe Villa  3 , Salomé Puisieux  1   10 , Solène Frismand  1 , Marion Wandzel  11 , Virginie Roth  11 , Anna Wissocq  8 , Thomas Wirth  12   13   14 , Matt C Danzi  4 , Isabelle Quadrio  15   16 , Stephan Zuchner  4 , Laetitia Lambert  2 , Fanny Mochel  6   17 , Matthis Synofzik  18 , Mathieu Anheim  12   13   14 , Henry Houlden  5 , Alexis Brice  6 , Carine Pourié  10 , Bernard Brais  3   19 , Céline Bonnet  11   10 , Alexandra Durr  6   17 , Mathilde Renaud  20   21   22
Affiliations

Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series

Armand Hocquel et al. J Neurol. .
No abstract available

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Conflict of interest statement

Declarations. Conflicts of interest: On behalf of all authors, the corresponding author states that there is no conflict of interest. Ethical standard: The study was performed in acordance with the ethical standard statement, patient given theor written consent.

References

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    1. Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY et al (2019) Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet 51(4):649–658 - PubMed - PMC
    1. Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F et al (2022) Motor neuron pathology in CANVAS due to RFC1 expansions. Brain 145(6):2121–2132 - PubMed
    1. 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 - PubMed
    1. 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. https://doi.org/10.1002/mds.29560 - DOI - PubMed

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