[Longitudinal study of three families with familial Parkinson's disease]
Luz Margarita Baltasar-Rodríguez1, Rebeca O Millán-Guerrero, Roberto Aceves-Themsel
1Laboratorio de Genética, Centro Universitario de Investigaciones Biomédicas, Facultad de Medicina, Universidad de Colima, Colima, Col., México.
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.
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