The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome.
Neurogenetics
; 15(3): 189-92, 2014 Aug.
Article
em En
| MEDLINE
| ID: mdl-24863655
ABSTRACT
Gain-of-function mutations of alpha-synuclein (SNCA) are known to trigger Parkinson's disease (PD) with striatal dopaminergic deficits and a reduction of spontaneous movements. The longest size variant (allele 2) of the complex microsatellite repeat Rep1 within the SNCA gene promoter is known to confer a PD risk. We now observed this Rep1 allele 2 to show significantly decreased frequency in restless legs syndrome (RLS) in a genotyping study of 258 patients versus 235 healthy controls from Germany. Given that RLS is a disease with increased spontaneous movements and with increased striatal dopamine signaling, these novel data appear plausible. The scarcity of this alpha-synuclein gain-of-function variant in RLS might suggest that a low alpha-synuclein function via the SNARE complex in presynaptic vesicle release and neurotransmission of the striatum contributes to RLS pathogenesis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
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Síndrome das Pernas Inquietas
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Alfa-Sinucleína
/
Frequência do Gene
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Aged
/
Aged80
/
Humans
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Middle aged
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article