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Mutation screening in exons 3 and 4 of α-synuclein in sporadic Parkinson's and sporadic and familial dementia with Lewy bodies cases

Lookup NU author(s): Christopher Murgatroyd, Dr Ann Curtis, Emeritus Professor Robert Perry, Dr Evelyn Jaros


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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 α-synuclein gene are a rare case of PD and now, as we have shown here, also of DLB.

Publication metadata

Author(s): El-Agnaf OMA, Curran MD, Wallace A, Middleton D, Murgatroyd C, Curtis A, Perry R, Jaros E

Publication type: Article

Publication status: Published

Journal: NeuroReport

Year: 1998

Volume: 9

Issue: 17

Pages: 3925-3927

Print publication date: 01/12/1998

ISSN (print): 0959-4965

ISSN (electronic): 1473-558X

Publisher: Lippincott Williams & Wilkins


PubMed id: 9875730