Artículo
Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
Perandones, Claudia; Giugni, J. C.; Calvo, D. S.; Raina, G. B.; De Jorge Lopez, L.; Volpini, Victor; Zabetian, Cyrus P.; Mata, Ignacio F.; Caputo, Mariela
; Corach, Daniel
; Radrizzani Helguera, Martin
; Micheli, Federico Eduardo
Fecha de publicación:
05/2014
Editorial:
Elsevier
Revista:
Parkinsonism & Related Disorders
ISSN:
1353-8020
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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] and [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 frequent urinary incontinence [2]. A lack of studies of mosaicism in PD illustrates that the prevalence and mechanism of these rearrangements have not yet been elucidated.
Palabras clave:
GENE MULTIPLICATION
,
MOSAICISM
,
PARKINSON'S DISEASE
,
Α-SYNUCLEIN
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Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Articulos de SEDE CENTRAL
Citación
Perandones, Claudia; Giugni, J. C.; Calvo, D. S.; Raina, G. B.; De Jorge Lopez, L.; et al.; Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism; Elsevier; Parkinsonism & Related Disorders; 20; 5; 5-2014; 558-561
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