RESUMEN
We observed two families with a dominantly inherited complex neurological syndrome with onset in adulthood. Family F included 9 affected in four generations. One patient showed prominent anticipation of onset age. Onset was with cerebellar signs followed by dementia, psychiatric symptoms, seizures, and extrapyramidal features. Family M included 14 affected individuals in five generations. Presenting symptoms were either psychiatric and cognitive impairment or a cerebellar syndrome. Extrapyramidal features, dysphagia, incontinence, seizures, and myoclonus may occur. In both families magnetic resonance imaging showed marked atrophy of the brain and cerebellum. Molecular analyses demonstrated an expanded CAG/CAA repeat in the in the TATA box-binding protein (TBP) gene (SCA17).
Asunto(s)
Ataxia/etiología , Enfermedades de los Ganglios Basales/etiología , Demencia/etiología , Epilepsia/etiología , Salud de la Familia , Ataxias Espinocerebelosas/complicaciones , Adolescente , Adulto , Ataxia/genética , Enfermedades de los Ganglios Basales/genética , Cerebelo/patología , Cerebelo/fisiopatología , Expansión de las Repeticiones de ADN , Demencia/genética , Electroencefalografía , Epilepsia/genética , Femenino , Humanos , Italia , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Biología Molecular , Fenotipo , ARN Mensajero/biosíntesis , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Ataxias Espinocerebelosas/diagnóstico , Ataxias Espinocerebelosas/genética , Proteína de Unión a TATA-Box/genéticaRESUMEN
The authors describe an Italian family with autosomal dominant ataxia, dementia, psychiatric and extrapyramidal features, epilepsy, mild sensorimotor axonal neuropathy, and MRI findings of cerebral and cerebellar atrophy. A child had a distinctive presentation with onset at 3 years, growth retardation, fast progression, and early death. Molecular analysis demonstrated an expanded CAG/CAA repeat in the TBP gene (SCA-17). The repeat size was 66 triplets in the child and 53 in all the other patients.