PO187 Parkinson’s families project recruiting via the bnsu: baseline data

2017 
Background Parkinson’s disease (PD) is associated with motor and non-motor symptoms, including cognitive impairment. Genetic features may influence clinical symptoms. Objective Familial PD patients have been recruited through the ABN British Neurological Surveillance Unit (BNSU) to the Parkinson’s Families Project. A primary aim of this study is to examine how genetic factors influence phenotype. We present baseline clinical data and a description of cognitive impairment in familial PD patients from this cohort. Methods Eligible patients are referred through the BNSU. Blood samples are collected for DNA. Systematic clinical data is collected using a similar approach to the Tracking Parkinson’s (PRoBaND) study. Results 101 patients with familial PD have been recruited to date from participating hospitals or remotely. Cognitive outcomes were assessed in the Montreal Cognitive Assessment (MoCA). In the first 85 familial PD patients, 27.1% of patients met criteria for mild cognitive impairment, 10.6% patients met criteria for severe cognitive impairment, and 62.4% of patients had normal cognition. Analysis of genetic data is underway and results with rare Mendelian mutations will be reported. Conclusions The BNSU is an essential source of recruitment to the Parkinson’s Families Project. Identification of genetic factors that influence phenotype will lead to new drug targets.
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