RESUMO

Steele-Richardson-Olszewski syndrome (SROS) is a neurodegenerative disorder of unknown aetiology, most frequently sporadic. Familial cases of SROS have been described. An intronic polymorphism of the tau gene is associated with sporadic SROS and mutations of the tau gene are present in atypical cases of SROS. The role of tau has been excluded in other families with pathology proven SROS, suggesting that this syndrome may have multiple causes. An 82-year-old patient, father of 3 children with autosomal recessive juvenile parkinsonism due to combined heterozygous mutations of the parkin gene, developed clinical features of SROS 2 years before death. The diagnosis was confirmed by pathology. He carried the C212Y mutation of the parkin gene and was homozygous for the A0 polymorphism and for the H1 haplotype. The role of parkin in the processing of tau is discussed.

Assuntos

Ligases/genética , Mutação/genética , Transtornos Parkinsonianos/genética , Paralisia Supranuclear Progressiva/genética , Ubiquitina-Proteína Ligases , Proteínas tau/genética , Idoso , Idoso de 80 Anos ou mais , Encéfalo/patologia , Análise Mutacional de DNA , Haplótipos/genética , Humanos , Masculino , Exame Neurológico , Transtornos Parkinsonianos/diagnóstico , Transtornos Parkinsonianos/patologia , Paralisia Supranuclear Progressiva/diagnóstico , Paralisia Supranuclear Progressiva/patologia