RESUMEN
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.
Asunto(s)
Ligasas/genética , Mutación/genética , Trastornos Parkinsonianos/genética , Parálisis Supranuclear Progresiva/genética , Ubiquitina-Proteína Ligasas , Proteínas tau/genética , Anciano , Anciano de 80 o más Años , Encéfalo/patología , Análisis Mutacional de ADN , Haplotipos/genética , Humanos , Masculino , Examen Neurológico , Trastornos Parkinsonianos/diagnóstico , Trastornos Parkinsonianos/patología , Parálisis Supranuclear Progresiva/diagnóstico , Parálisis Supranuclear Progresiva/patologíaRESUMEN
Immunological response was characterized in 15 patients with Parkinso's disease intracerebrally transplanted: seven in unilateral and eight in bilateral hemisphere with fetal mesencephalic cells by stereotactical technique. The phenotypic distribution of mononuclear cells in CSF and PB was investigated using monoclonal antibodies. The total protein, albumin and IgG in CSF and albumin, IgA, IgM and IgG Concentration in serum were also analyzed, before and after evolution. A general decrease in CD2+ cells was found in patients with unilateral neurotransplantation during the first semester following trasplant. A small increase in the proportion of CSF CD8+ cells was observed in the first month and in the fourth month in PB. In patients with bilateral intracerebral allografts a decrease in CD2+ and CD4+ cells was found during the first and fourth month. The intrathecal synthesis of IgG during the fourth month was observed in both patients. Results are discussed taking into account the immunosupressor treatment(AU)