Vincent Huin1, Isabelle Strubi-Vuillaume2, Kathy Dujardin3, Marine Brion4, Marie Delliaux4, Delphine Dellacherie5, Jean-Christophe Cuvellier5, Jean-Marie Cuisset5, Audrey Riquet5, Caroline Moreau3, Luc Defebvre3, Bernard Sablonnière6, David Devos7. 1. Univ. Lille, Inserm, CHU Lille, UMR-S 1172 - JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, F-59000, Lille, France; CHU Lille, Institut de Biochimie et Biologie moléculaire, Centre de Biologie Pathologie et Génétique, F-59000, Lille, France. Electronic address: vincent.huin@inserm.fr. 2. CHU Lille, Institut de Biochimie et Biologie moléculaire, Centre de Biologie Pathologie et Génétique, F-59000, Lille, France. 3. Univ. Lille, Inserm, CHU Lille, U1171 - Degenerative & vascular cognitive disorders, F-59000, Lille, France; CHU Lille, Service de Neurologie et Pathologies du Mouvement, Hôpital Roger Salengro, F-59000, Lille, France. 4. CHU Lille, Service de Neurologie et Pathologies du Mouvement, Hôpital Roger Salengro, F-59000, Lille, France. 5. CHU Lille, Service de Neuropédiatrie, Hôpital Roger Salengro, F-59000, Lille, France. 6. Univ. Lille, Inserm, CHU Lille, UMR-S 1172 - JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, F-59000, Lille, France; CHU Lille, Institut de Biochimie et Biologie moléculaire, Centre de Biologie Pathologie et Génétique, F-59000, Lille, France. 7. Univ. Lille, Inserm, CHU Lille, U1171 - Degenerative & vascular cognitive disorders, F-59000, Lille, France; CHU Lille, Service de Neurologie et Pathologies du Mouvement, Hôpital Roger Salengro, F-59000, Lille, France; CHU Lille, Service de Pharmacologie médicale, Faculté de Médecine, F-59045, Lille, France.
Abstract
INTRODUCTION: 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.
INTRODUCTION: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.
Authors: Martin Paucar; Åsa Bergendal; Peter Gustavsson; Magnus Nordenskjöld; José Laffita-Mesa; Irina Savitcheva; Per Svenningsson Journal: Cerebellum Date: 2018-08 Impact factor: 3.847
Authors: Martin Paucar; Richard Ågren; Tianyi Li; Simon Lissmats; Åsa Bergendal; Jan Weinberg; Daniel Nilsson; Irina Savichetva; Kristoffer Sahlholm; Johanna Nilsson; Per Svenningsson Journal: Neurol Genet Date: 2021-01-06