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

Omar M.A. El-Agnaf, Martin D. Curran, Andrew Wallace, Derek Middleton, Christopher Murgatroyd, Anne Curtis, Robert Perry, Evelyn Jaros

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32 Citations (Scopus)

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

Original languageEnglish
Pages (from-to)3925-3927
Number of pages3
JournalNeuroReport
Volume9
Issue number17
DOIs
Publication statusPublished - Dec 1 1998
Externally publishedYes

Keywords

  • DNA sequencing
  • Familial dementia with Lewy body
  • Parkinson's disease
  • α- Synuclein mutations

ASJC Scopus subject areas

  • Neuroscience(all)

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