PO100 Familial parkinson’s disease in ireland

    loading  Checking for direct PDF access through Ovid



To study the phenotype and establish the genetic background of familial Parkinson’s disease (PD) in Ireland.


10% of PD patients have a PD family history. Familial studies have led to the identification of causative gene mutations at 7 chromosome loci.


We expanded upon a 12 year familial PD study and identified a further 174 familial cases. 98 patients were genetically tested for the known PD genes (McCarthy A, Ross O) (3 Parkin, no LRRK2 mutations). 76 new probands were recruited and 31 pedigrees were expanded.


In the analysis of 76 new pedigrees male to female ratio was 2.04, mean PD age-of-onset was 56.5 (range 29–80). Young onset PD (Conclusion

LRRK2 mutations frequency varies geographically and are uncommon in Ireland. We will perform NGS to identify new PD genes.

Related Topics

    loading  Loading Related Articles