Article
How much phenotypic variation can be attributed to parkin genotype?
Annals of neurology - 1 Aug 2003
Lohmann Ebba, Periquet Magali, Bonifati Vincenzo, Wood Nick W, De Michele Giuseppe, Bonnet Anne-Marie, Fraix Valérie, Broussolle Emmanuel, Horstink Martin W I M, Vidailhet Marie, Verpillat Patrice, Gasser Thomas, Nicholl David, Teive Hélio, Raskin Salmo, Rascol Olivier, Destée Alain, Ruberg Merle, Gasparini Francesca, Meco Giuseppe, Agid Yves, Durr Alexandra, Brice Alexis
Abstract excerpt
To establish phenotype-genotype correlations in early-onset parkinsonism, we have compared the phenotype of a large series of 146 patients with and 250 patients without parkin mutations. Although no single sign distinguished the groups, patients with mutations had significantly earlier and more symmetrical onset, dystonia more often at onset and hyperreflexia, slower progression of the disease, and a tendency...
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