[Longitudinal study of three families with familial Parkinson's disease]

Abstract

Background: Familial Parkinson's is a variant of Parkinson's disease (PD) transmitted generationally with an early onset.

Objective: Describe the clinical disease characteristics and its 18 year evolution among families in Colima presenting familial PD.

Materials and methods: We determined disease diagnosis, evolution and hereditary pattern. The UPDRS system was used to follow the longitudinal course of the disease. Descriptive statistics were carried out using means and percentages.

Results: Three families were studied, with a total of 51 subjects aged 29 +/- 22 years spanning 4 generations. Thirty-seven percent of studied subjects displayed familial PD, with disease onset at 24 +/- 9 years of age. The highest UPDRS value was 175. Disease transmission with a dominant autosomic heredity pattern was shown. One hundred percent of first and second generation members from family number 1 displayed the disease.

Conclusions: The three families displayed early onset PD and rapid progression, coinciding with described characteristics of type 1 familial Parkinsonism (PARK1). This disease is caused by the Ala53Thr mutation of the alpha-synuclein gene.