Familiárna agregácia parkinsonovej choroby: Genealogická štúdia

Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's disease. It is characterised by a high variability for the age of the onset of symptoms. The question is whether the genes predisposing to the development of PD are also responsible for the symptom onset age. The onset of PD symptoms at a younger age is related to familial incidence of the disease, as the age of onset in some families with PD was lower than 50 years. Based on this observation, the onset of PD symptoms at a younger age is supposed to be related to familial incidence of PD. The familial forms stand for between 10 and 15% of all cases [2]. There are few prospective studies concerning rare incidence of large Parkinsonism families, low hereditability and large heterogeneity of PD, which endorse this hypothesis. The objective of this study is to compare the link between the early onset and familial incidence of PD, i.e. to find out whether or not genetic factors contribute to early onset of PD. 148 patients regularly monitored by the supraregional Centre for Diagnosis and Treatment of Neurodegenerative Diseases filled in a structured questionnaire. Questions concerned the sex and age, the first symptoms of the disease and the age of their onset in the monitored patients, as well as in their relatives. 100 filled questionnaires were returned for evaluation. Familiar incidence associated with low age of PD onset was confirmed in 18 cases (9 men and 9 women) out of 100 patients enrolled in the epidemiological study. Paternal heredity was discovered in 4 cases in men, and maternal heredity was discovered in 7 cases in women.