No pathogenic mutations in the beta-synuclein gene in Parkinson's disease.

Abstract

We present 11 families consistent with autosomal dominant inheritance of probable Parkinson's disease (PD). Although excluded as a cause of disease in these kindreds, mutations in the alpha-synuclein gene have been implicated in familial PD. The beta-synuclein gene is highly homologous, expressed in the nervous system and thus is a good candidate gene for PD. Multipoint linkage analysis was either equivocal or excluded 5q35 haplotype sharing among affected family members. Sequencing the translated exons of the beta-synuclein gene failed to identify any pathogenic mutation.

• Authors: S Lincoln, R Crook, M C Chartier-Harlin, K Gwinn-Hardy, M Baker, V Mouroux, F Richard, E Becquet, P Amouyel, A Destée, J Hardy, M Farrer
• Journal: Neuroscience letters (Neurosci Lett) Vol. 269 Issue 2 Pg. 107-9 (Jul 09 1999) ISSN: 0304-3940 [Print] Ireland
• PMID: 10430516 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• Adult
• Aged
• Aged, 80 and over
• Chromosomes, Human, Pair 5
• Female
• Genetic Linkage
• Haplotypes
• Humans
• Male
• Middle Aged
• Mutation
• Nerve Tissue Proteins (genetics)
• Parkinson Disease (genetics)
• Pedigree
• Synucleins
• alpha-Synuclein
• beta-Synuclein