Essential tremor is not associated with alpha-synuclein gene haplotypes.
A specific allele of the NACP-Rep1 polymorphism within the alpha-synuclein promoter was found to be associated both with Parkinson's disease and essential tremor. We repeated the association study on a large series of Italian patients with essential tremor using a panel of polymorphisms within the alpha-synuclein gene. Our results did not confirm the association reported previously and failed to identify a alpha-synuclein specific haplotype as susceptibility factor for essential tremor.
Pigullo
Simona
S
Department of Neurosciences, Ophthalmology and Genetics-Section of Medical Genetics, University of Genova, Genova, Italy.
Di Maria
Emilio
E
Marchese
Roberta
R
Bellone
Emilia
E
Gulli
Rossella
R
Scaglione
Cesa
C
Battaglia
Stella
S
Barone
Paolo
P
Martinelli
Paolo
P
Abbruzzese
Giovanni
G
Ajmar
Franco
F
Mandich
Paola
P
D000368:Aged; D000483:Alleles; D020329:Essential Tremor / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D051843:Synucleins; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein