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Gaceta médica de México

versão impressa ISSN 0016-3813

Resumo

BALTASAR-RODRIGUEZ, Luz Margarita et al. Longitudinal study of three families with familial Parkinson's disease. Gac. Méd. Méx [online]. 2006, vol.142, n.5, pp. 387-391. ISSN 0016-3813.

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 familia 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 offirst 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.

Palavras-chave : Familial Parkinson's; dominant; PARK 1.

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