Expanding the phenotype of sca19/22: parkinsonism, cognitive impairment and epilepsy
Résumé
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.
Mots clés
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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