Molecular NeuroscienceMutation screening in exons 3 and 4 of α-synuclein in sporadic Parkinson's and sporadic and familial dementia with Lewy bodies casesEl-Agnaf, Omar M. A.1,2; Curran, Martin D.2; Wallace, Andrew1,5; Middleton, Derek1,2; Murgatroyd, Christopher3,4; Curtis, Anne3; Perry, Robert4; Jaros, Evelyn4 Author Information 1School of Biology and Biochemistry, Queen's University of Belfast, 97 Lisburn Road, Belfast BT9 7BL, UK 2Northern Ireland Histocompatibitily and Immunogenetics Laboratory, Belfast City Hospital, Lisburn Road Belfast BT9 7AB, UK 3Department of Human Genetics, University of Newcastle upon Tyne, Claremont Road, Newcastle upon Tyne, NE1 7RU, UK 4Department of Neuropathology, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, NE4 6BE, UK 5Corresponding Author: Andrew Wallace ACKNOWLEDGEMENTS: We would like to thank the UK Medical Research Council for financial support (grant G9626372N). Received 29 July 1998; accepted 7 September 1998 NeuroReport: December 1, 1998 - Volume 9 - Issue 17 - p 3925-3927 Buy 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 α-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 α-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 a-synuclein gene are a rare case of PD and now, as we have shown here, also of DLB. © 1998 Lippincott Williams & Wilkins, Inc.