BACKGROUND: A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families. METHOD: We searched for alterations of alpha-synuclein gene dosage and analysed the entire coding region for point mutations in 54 dementia with Lewy body disease (DLB) and in 103 young onset Parkinson's disease (PD) patients from Central Europe. RESULTS: We could not detect any quantitative alterations in the gene dosage of alpha-synuclein. Mutational screening of the entire coding region of alpha-synuclein revealed only one silent mutation V3V (adenine9guanine) in one case. CONCLUSIONS: Thus, this phenomenon appears not to be a major cause in the pathogenesis of sporadic DLB and young onset PD in this European population.
BACKGROUND: A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families. METHOD: We searched for alterations of alpha-synuclein gene dosage and analysed the entire coding region for point mutations in 54 dementia with Lewy body disease (DLB) and in 103 young onset Parkinson's disease (PD) patients from Central Europe. RESULTS: We could not detect any quantitative alterations in the gene dosage of alpha-synuclein. Mutational screening of the entire coding region of alpha-synuclein revealed only one silent mutation V3V (adenine9guanine) in one case. CONCLUSIONS: Thus, this phenomenon appears not to be a major cause in the pathogenesis of sporadic DLB and young onset PD in this European population.
Authors: A B Singleton; M Farrer; J Johnson; A Singleton; S Hague; J Kachergus; M Hulihan; T Peuralinna; A Dutra; R Nussbaum; S Lincoln; A Crawley; M Hanson; D Maraganore; C Adler; M R Cookson; M Muenter; M Baptista; D Miller; J Blancato; J Hardy; K Gwinn-Hardy Journal: Science Date: 2003-10-31 Impact factor: 47.728
Authors: I G McKeith; D Galasko; K Kosaka; E K Perry; D W Dickson; L A Hansen; D P Salmon; J Lowe; S S Mirra; E J Byrne; G Lennox; N P Quinn; J A Edwardson; P G Ince; C Bergeron; A Burns; B L Miller; S Lovestone; D Collerton; E N Jansen; C Ballard; R A de Vos; G K Wilcock; K A Jellinger; R H Perry Journal: Neurology Date: 1996-11 Impact factor: 9.910
Authors: R Krüger; W Kuhn; T Müller; D Woitalla; M Graeber; S Kösel; H Przuntek; J T Epplen; L Schöls; O Riess Journal: Nat Genet Date: 1998-02 Impact factor: 38.330
Authors: M H Polymeropoulos; C Lavedan; E Leroy; S E Ide; A Dehejia; A Dutra; B Pike; H Root; J Rubenstein; R Boyer; E S Stenroos; S Chandrasekharappa; A Athanassiadou; T Papapetropoulos; W G Johnson; A M Lazzarini; R C Duvoisin; G Di Iorio; L I Golbe; R L Nussbaum Journal: Science Date: 1997-06-27 Impact factor: 47.728
Authors: C Holzmann; R Krüger; A M M Vieira Saecker; I Schmitt; L Schöls; K Berger; O Riess Journal: J Neural Transm (Vienna) Date: 2003-01 Impact factor: 3.575
Authors: Juan J Zarranz; Javier Alegre; Juan C Gómez-Esteban; Elena Lezcano; Raquel Ros; Israel Ampuero; Lídice Vidal; Janet Hoenicka; Olga Rodriguez; Begoña Atarés; Verónica Llorens; Estrella Gomez Tortosa; Teodoro del Ser; David G Muñoz; Justo G de Yebenes Journal: Ann Neurol Date: 2004-02 Impact factor: 10.422
Authors: J Johnson; S M Hague; M Hanson; A Gibson; K E Wilson; E W Evans; A A Singleton; A McInerney-Leo; R L Nussbaum; D G Hernandez; M Gallardo; I G McKeith; D J Burn; M Ryu; O Hellstrom; B Ravina; J Eerola; R H Perry; E Jaros; P Tienari; R Weiser; K Gwinn-Hardy; C M Morris; J Hardy; A B Singleton Journal: Neurology Date: 2004-08-10 Impact factor: 9.910
Authors: Andrew D Hope; Ronny Myhre; Jennifer Kachergus; Sarah Lincoln; Gina Bisceglio; Mary Hulihan; Matthew J Farrer Journal: Neurosci Lett Date: 2004-08-26 Impact factor: 3.046