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Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
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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...
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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.. Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism. _Parkinsonism & Related Disorders_. 2014. Vol. 20, núm. 5, pàgs. 558-561. [consulta: 27 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/126346]