Article
Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family.
Parkinsonism & related disorders - 1 Aug 2015
Olgiati Simone, Thomas Astrid, Quadri Marialuisa, Breedveld Guido J, Graafland Josja, Eussen Hubertus, Douben Hannie, de Klein Annelies, Onofrj Marco, Bonifati Vincenzo
Abstract excerpt
INTRODUCTION: Triplications of SNCA, the gene encoding for α-synuclein, cause a very rare Mendelian form of early-onset parkinsonism combined with cognitive and autonomic dysfunctions. Only six families with SNCA triplications have been described so far, limiting our knowledge of the associated phenotype. In this study, we report clinical and genetic findings in a new Italian family with SNCA triplication....
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