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


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.
Baltasar-Rodríguez
Luz Margarita
LM
Laboratorio de Genética, Centro Universitario de Investigaciones Biomédicas, Facultad de Medicina, Universidad de Colima, Colima, Col., México.
Millán-Guerrero
Rebeca O
RO
Aceves-Themsel
Roberto
R
Isais-Millán
Sara
S
Delgado-Enciso
Iván
I
D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D008137:Longitudinal Studies; D008297:Male; D008800:Mexico / Q000453:epidemiology; D008875:Middle Aged; D010300:Parkinson Disease / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D012720:Severity of Illness Index; D017678:Sex Distribution