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

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 g ene could be detected in sixty two sporadic PD and dementia with Lewy bodie s (DLB) patients. Four cases of familial DLB were also studied, two of whic h were from the same family. Single stranded conformational polymorphism, D NA sequencing analyses and PCR-RFLP of exons 3 and 4 failed to reveal any n ucleotide changes. However, three nucleotide differences occurred in the in tron 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. NeuroRe port 9: 3925-3927 (C) 1998 Lippincott Williams & Wilkins.