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Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy

Vincent Huin 1, 2, * Isabelle Strubi-Vuillaume 2 Kathy Dujardin 3, 4 Marine Brion 4 Marie Delliaux 4 Delphine Dellacherie 5 Jean-Christophe Cuvellier 5 Jean-Marie Cuisset 5 Audrey Riquet 5 Caroline Moreau 3 Luc Defebvre 3 Bernard Sablonniere 1, 2 David Devos 3, 4
* Auteur correspondant
1 JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837
2 Centre de Biologie Pathologie et Génétique
3 TCDV - Troubles cognitifs dégénératifs et vasculaires - U 1171
4 Service de Neurologie et Pathologies du Mouvement [CHU Lille]
5 Service de neuropédiatrie [CHU Lille]
Abstract : BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. Here, we report on new clinical features and provide details of the cognitive profile in two SCA19/22 families. METHODS: Two families displaying an autosomal-dominant form of cerebellar ataxia underwent clinical examinations and genetic testing. RESULTS: In addition to the classical clinical features of SCA, a wide spectrum of cognitive disorders (including visuospatial impairments) was observed. Eight patients had mild Parkinsonism, and five had epilepsy. Genetic testing showed that the KCND3 mutation (c.679_681delTTC, p.F227del) was present in both families. CONCLUSIONS: Our findings broaden the phenotypic spectrum of SCA19/22, and suggest that KCND3 should be included in the list of candidate genes for epilepsy, Parkinsonism and cognitive impairment.
Keywords : Mesh:Parkinsonian Disorders/genetics* Mesh:Middle Aged Mesh:Pedigree Mesh:Phenotype Epilepsy Cognitive disorders KCND3 mutation Neuropsychiatric disorder Mesh:Male Mesh:Humans Mesh:Female Mesh:Epilepsy/genetics* Mesh:Cognitive Dysfunction/genetics* Mesh:Adolescent Mesh:Child Mesh:Aged Mesh:80 and over Mesh:Adult Mesh:Spinocerebellar Degenerations/complications* Parkinson''s disease Spinocerebellar ataxia Neurogenetics
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Contributeur : Vincent Huin <>
Soumis le : vendredi 20 novembre 2020 - 11:21:55
Dernière modification le : samedi 21 novembre 2020 - 03:22:12

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Vincent Huin, Isabelle Strubi-Vuillaume, Kathy Dujardin, Marine Brion, Marie Delliaux, et al.. Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy. Parkinsonism and Related Disorders, Elsevier, 2017, Parkinsonism & related disorders, 45, pp.85-89. ⟨10.1016/j.parkreldis.2017.09.014⟩. ⟨hal-02467104v2⟩

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