RESUMEN

We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow-up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent.

Asunto(s)

Heterocigoto , Trastornos Parkinsonianos/etnología , Trastornos Parkinsonianos/genética , Ubiquitina-Proteína Ligasas/genética , Adulto , Antiparkinsonianos/efectos adversos , Brasil , Análisis Mutacional de ADN , Discinesia Inducida por Medicamentos/etiología , Discinesia Inducida por Medicamentos/fisiopatología , Exones/genética , Femenino , Estudios de Seguimiento , Pie/fisiopatología , Genotipo , Humanos , Levodopa/efectos adversos , Masculino , Trastornos Parkinsonianos/tratamiento farmacológico , Linaje , Mutación Puntual/genética