# name
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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Parkinsonism & Related Disorders, 2014, vol. 20, num. 5, p. 558-561

# metadata.dc.source[].value
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

# metadata.dc.title[].value
Mosaicism of alpha-synuclein gene rearrangements: Report of
two unrelated cases of early-onset parkinsonism