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

Neuroreport. 1998 Dec 1;9(17):3925-7. doi: 10.1097/00001756-199812010-00029.

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

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Dementia / genetics*
  • Dementia / pathology
  • Exons*
  • Female
  • Genetic Testing*
  • Humans
  • Lewy Bodies / pathology*
  • Male
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Parkinson Disease / genetics*
  • Parkinson Disease / pathology
  • Periodicity
  • Polymorphism, Single-Stranded Conformational
  • Synucleins
  • alpha-Synuclein

Substances

  • Nerve Tissue Proteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein