RESUMEN
Fatal familial insomnia (FFI) is an inherited prion disease linked to a mutation at codon 178 of the PRNP gene that results in aspartic acid to asparagine substitution, in coupling phase with methionine at position 129. The disease is characterized clinically by insomnia with disturbances of the autonomic, endocrine, and motor systems and neuropathologically by selective degeneration of the thalamus. Phenotypic variability is well known and has been linked to homozygosity or heterozygosity at PRNP codon 129. We report the clinical, neuropathologic, and biochemical findings and genomic analysis of a patient with FFI from a new Italian kindred. Although homozygous for methionine at codon 129, this patient showed some clinical and pathologic features most commonly found in heterozygotes.
Asunto(s)
Encéfalo/metabolismo , Encéfalo/patología , Trastornos del Inicio y del Mantenimiento del Sueño/genética , Trastornos del Inicio y del Mantenimiento del Sueño/patología , Western Blotting , Resultado Fatal , Femenino , Humanos , Persona de Mediana Edad , Linaje , Fragmentos de Péptidos/metabolismo , Priones/metabolismo , Trastornos del Inicio y del Mantenimiento del Sueño/metabolismo , Tálamo/patología , Distribución TisularRESUMEN
The concentration of choline in the cerebrospinal fluid (CSF) of patients affected by primary dementia and in red blood cells (RBC) of depressed patients before and after treatment with lithium salts was determined using a chemiluminescent assay. The mean CSF concentration of choline was found to be 60 pmoles/ml (SD = 20 pmoles/ml) and this was lower than values obtained previously by spectrophotometric-colorimetric methods. Mean RBC choline concentrations before and after therapy with lithium salts were 20 nmoles/ml (SD = 16 nmoles/ml and 328 nmoles/ml (SD = 206 nmoles/l) respectively and these are similar to those reported previously (obtained by chemiluminescent and non-chemiluminescent methods).
Asunto(s)
Colina/sangre , Eritrocitos/análisis , Colina/líquido cefalorraquídeo , Demencia/líquido cefalorraquídeo , Trastorno Depresivo/sangre , Trastorno Depresivo/tratamiento farmacológico , Humanos , Indicadores y Reactivos , Litio/uso terapéutico , Mediciones LuminiscentesRESUMEN
This work deals with the results of a clinical experience with viloxazine (VLZ) carried out on 43 depressed subjects of the female sex categorized with D.S.M. III criteria. Clinical ratings were made by means of the Hamilton Scale for depression and the Taylor self rating scale for anxiety. The results prove the efficacy of the drug in all the examined patients, along with the rapidity of effects in comparison with the tricyclic antidepressants. The elderly patients improved better than the adult subjects, especially when the depression was of the inhibited type.