title: Mutation screening in exons 3 and 4 of alpha-synuclein in sporadic Parkinson's and sporadic and familial dementia with Lewy bodies cases.
abstract: Recently it has been reported that a missense G(88)C mutation within exon 3 and a missense G(209)A mutation within exon 4 of the alpha-synuclein gene were linked to familial Parkinson's Disease (PD). We decided to investigate if these and any other mutations in exons 3 and 4 of the alpha-synuclein gene could be detected in sixty two sporadic PD and dementia with Lewy bodies (DLB) patients. Four cases of familial DLB were also studied, two of which were from the same family. Single stranded conformational polymorphism, DNA sequencing analyses and PCR-RFLP of exons 3 and 4 failed to reveal any nucleotide changes. However, three nucleotide differences occurred in the intron 4 sequence compared to the published sequence. This study adds further support to the idea that these particular mutation in the alpha-synuclein gene are a rare case of PD and now, as we have shown here, also of DLB.
authors.affiliation: School of Biology and Biochemistry, Queen's University of Belfast, Northern Ireland Histocompatibility and Immunogenetics Laboratory, Belfast City Hospital.
authors.forename: O M
authors.initials: OM
authors.lastname: El-Agnaf
authors.forename: M D
authors.initials: MD
authors.lastname: Curran
authors.forename: A
authors.initials: A
authors.lastname: Wallace
authors.forename: D
authors.initials: D
authors.lastname: Middleton
authors.forename: C
authors.initials: C
authors.lastname: Murgatroyd
authors.forename: A
authors.initials: A
authors.lastname: Curtis
authors.forename: R
authors.initials: R
authors.lastname: Perry
authors.forename: E
authors.initials: E
authors.lastname: Jaros
mesh_terms: D003704:Dementia / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005260:Female; D005820:Genetic Testing; D006801:Humans; D016631:Lewy Bodies / Q000473:pathology*; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology; D010507:Periodicity; D018807:Polymorphism, Single-Stranded Conformational; D051843:Synucleins; D051844:alpha-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein