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http://hdl.handle.net/2445/126346
Title: | Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism |
Author: | Perandones, C. Giugni, J. C. Calvo, D. S. Raina, G. B. Jorge López, L. de Volpini Bertrán, Víctor Zabetian, C. P. Mata, Ignacio F. Caputo, M. Corach, D. Radrizzani, M. Micheli, F. E. |
Keywords: | Malaltia de Parkinson Genètica molecular Parkinson's disease Molecular genetics |
Issue Date: | 1-May-2014 |
Publisher: | Elsevier Science |
Abstract: | Dear 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... |
Note: | Versió postprint del document publicat a: https://doi.org/10.1016/j.Parkreldis.2013.11.014 |
It is part of: | Parkinsonism & Related Disorders, 2014, vol. 20, num. 5, p. 558-561 |
URI: | http://hdl.handle.net/2445/126346 |
Related resource: | https://doi.org/10.1016/j.Parkreldis.2013.11.014 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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