PO100 Familial parkinson’s disease in ireland

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Abstract

Objectives

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

Background

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

Methods

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.

Results

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.

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