Perandones, C.Giugni, J. C.Calvo, D. S.Raina, G. B.Jorge López, L. deVolpini Bertrán, VíctorZabetian, C. P.Mata, Ignacio F.Caputo, M.Corach, D.Radrizzani, M.Micheli, F. E.2018-11-222018-11-222014-05-01https://hdl.handle.net/2445/126346Dear Sir, In genetics, the term ‘mosaicism’ describes the situation in which groups of cells have a different genetic composition to other cells in an organism. Somatic gene rearrangements due to multiplication or deletion of genes (copy number variation) and/or sections of chromosomes can lead to mosaicism. The presence of multiple copies of the alpha-synuclein gene (SNCA) is known to be associated with Parkinson’s disease (PD) and the severity of symptoms increases with the number of copies of the gene [1]. While the features of PD associated with duplication of SNCA are usually (but not always) typical of the condition [2–3], patients with triplicate copies have atypical features, including rapidly evolving symptoms, severe cognitive impairment, limited response to levodopa, more severe symptoms of dementia and more...7 p.application/pdfeng(c) Elsevier, 2014Malaltia de ParkinsonGenètica molecularParkinson's diseaseMolecular geneticsinfo:eu-repo/semantics/article2018-07-24info:eu-repo/semantics/openAccess24552873