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

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

Research output: Contribution to journalArticle

31 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
Publication statusPublished - 1 Dec 1998
Externally publishedYes

Fingerprint

Synucleins
Lewy Bodies
Dementia
Exons
Parkinson Disease
Lewy Body Disease
Mutation
Nucleotides
Genes
Single-Stranded Conformational Polymorphism
DNA Sequence Analysis
Restriction Fragment Length Polymorphisms
Introns
Polymerase Chain Reaction

Keywords

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

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Ali El-Agnaf, O., Curran, M. D., Wallace, A., Middleton, D., Murgatroyd, C., Curtis, A., ... Jaros, E. (1998). Mutation screening in exons 3 and 4 of α-synuclein in sporadic Parkinson's and sporadic and familial dementia with Lewy bodies cases. NeuroReport, 9(17), 3925-3927.

Mutation screening in exons 3 and 4 of α-synuclein in sporadic Parkinson's and sporadic and familial dementia with Lewy bodies cases. / Ali El-Agnaf, Omar; Curran, Martin D.; Wallace, Andrew; Middleton, Derek; Murgatroyd, Christopher; Curtis, Anne; Perry, Robert; Jaros, Evelyn.

In: NeuroReport, Vol. 9, No. 17, 01.12.1998, p. 3925-3927.

Research output: Contribution to journalArticle

Ali El-Agnaf, O, Curran, MD, Wallace, A, Middleton, D, Murgatroyd, C, Curtis, A, Perry, R & Jaros, E 1998, 'Mutation screening in exons 3 and 4 of α-synuclein in sporadic Parkinson's and sporadic and familial dementia with Lewy bodies cases', NeuroReport, vol. 9, no. 17, pp. 3925-3927.
Ali El-Agnaf, Omar ; Curran, Martin D. ; Wallace, Andrew ; Middleton, Derek ; Murgatroyd, Christopher ; Curtis, Anne ; Perry, Robert ; Jaros, Evelyn. / Mutation screening in exons 3 and 4 of α-synuclein in sporadic Parkinson's and sporadic and familial dementia with Lewy bodies cases. In: NeuroReport. 1998 ; Vol. 9, No. 17. pp. 3925-3927.
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