FGF14 ‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9

Julie Piarroux (1) , Florence Riant (2, 3) , Véronique Humbertclaude (4) , Ganaelle Remerand (5) , Jessica Hadjadj (1) , Franck Rejou (1) , Christine Coubes (6, 1) , Lucile Pinson (7) , Pierre Meyer (1, 8) , Agathe Roubertie (9, 1)

1 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
2 Hôpital Lariboisière
3 2Service de Génétique Moléculaire Neurovasculaire, Groupe hospitalier Saint-Louis - Lariboisière - Fernand Widal AP-HP, Paris, France
4 IGH - Institut de génétique humaine
5 Service de Néonatologie [CHU Clermont-Ferrand]
6 Service de Génétique Clinique
7 Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier]
8 PhyMedExp - Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046]
9 INM - Institut des Neurosciences de Montpellier

We report four patients from two families who presented attacks of childhood-onset episodic ataxia associated with pathogenic mutations in the FGF14 gene. Attacks were triggered by fever, lasted several days, and had variable frequencies. Nystagmus and/or postural tremor and/or learning disabilities were noticed in individuals harboring FGF14 mutation with or without episodic ataxia. These cases and literature data delineate the FGF14-mutation-related episodic ataxia phenotype: wide range of age at onset (from childhood to adulthood), variable durations and frequencies, triggering factors including fever, and association to chronic symptoms. We propose to add FGF14-related episodic ataxia to the list of primary episodic ataxia as Episodic Ataxia type 9.

Domaines: Sciences du Vivant [q-bio]

Julie Piarroux, Florence Riant, Véronique Humbertclaude, Ganaelle Remerand, Jessica Hadjadj, et al.. FGF14 ‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9. Annals of Clinical and Translational Neurology, 2020, ⟨10.1002/acn3.51005⟩. ⟨hal-02507985⟩