Interaction of the Cognitive and Sensory-cognitive Tasks With Postural Stability in Individuals...
Cerebellar AtaxiaCerebellar DiseasesThe aim of this study is to describe the interaction of the cognitive and visual-cognitive task with postural stability in patients suffering by cerebellar ataxia. Investigators will measure changes in postural stability parameters and in secondary task performance, which should show the ability of the patients to manage the dualtask situations.
Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
Joubert SyndromeCerebello-oculo-renal SyndromesPrimary objective: assessment of the prevalence of AHI1 mutations in Joubert syndrome and cerebello-oculo-renal syndromes (JS/CORS) Secondary objective: assessment of the prevalence of CEP290 mutations and NPHP1 homozygous deletions in JS/CORS caracterization of mutational spectrum of AHI1, NPHP1, CEP290 genes in JS/CORS. evaluation of genotype-phenotype correlation in JS/CORS.
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