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Molecular study of movement disorders in Switzerland

Applicant Albanese Alberto
Number 52782
Funding scheme NRP 38 Diseases of the Nervous System
Research institution Service de Neurologie Département des Neurosciences Cliniques CHUV
Institution of higher education University of Lausanne - LA
Main discipline Neurology, Psychiatry
Start/End 01.10.1998 - 30.09.2000
Approved amount 332'234.00
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Keywords (8)

PARKINSONS'S DISEASE; ESSENTIAL TREMOR; WILSONS'S DISEASE; GENOME-WIDE SEARCH; DYSTONIA; HUNTINGTON'S DISEASE; MOVEMENT DISORDERS; GENE LOCALISATION

Lay Summary (English)

Lead
Lay summary
Prevalence data shows that movement disorders altogether represent the most common group of neurological diseases and affect in many instances people in their working age, limiting considerably their quality of life. The characterization of new genes the basis for understanding the pathogenesis of movement disorders and finding new therapies. The identification of new genes and the correlation with clinical phenotypes may contribute to provide new DNA tests for the diagnosis of movement disorders and to counsel haplotype carriers on the clinical features associated with their gene defect. Finally, gene therapy is a possible future fall-out of this research.Parkinsonism: In three large families with parkinsonian syndromes which are clinically characterized for having a reproducible phenotype in their kindreds, DNA of affected and unaffected members were assessed for screening for the a-synuclein gene A genome-wide linkage analysis is underway.Dystonia: One of three studied dystonic kindreds is particularly meaningful for a molecular genetic study. This family includes 20 patients, in 4 generations; it is characterized by a phenotype of levodopa responsive dystonia (DRD) with progressive generalized dystonia, childhood onset, diurnal fluctuations, parkinsonian symptoms and a dramatic response to low doses of levodopa. The presence of known loci mutations has been excluded in this family and further investigations, including haplotype sharing, is in progress. A second kindred raises further evidence of the heterogeneity of DRD phenotypes, which might be associated with other abnormalities of pteridine metabolism. Further clinical, biomolecular and genetic investigations are in progress.Essential Tremor: Clinical and genetic assessment in two kindreds with essential tremor/Parkinsonís disease including 6 and 4 subjects respectively in 2 generations is in progress. Multiple System Atrophy: In a further kindred there is evidence of a familiar occurrence of multiple system atrophy, a disease which has never been described, so far, as hereditary.
Direct link to Lay Summary Last update: 21.02.2013

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