RESUMO
Autosomal recessive hereditary spastic paraplegia with thinning of the anterior corpus callosum (ARHSP-TCC) due to mutations in SPG11 on chromosome 15q (MIM610844) is the single most common cause of ARHSP. It is characterized by slowly progressive paraparesis and peripheral neuropathy. Although cognitive impairment, sometimes diagnosed as mental retardation, is an almost invariable feature, the extent and specific neuropsychological features are not fully understood. We report a comprehensive neuropsychological assessment in two ARHSP-TCC patients harbouring mutations in SPG11. A specific impairment in executive functions occurring even before cognitive decline, may be considered the core of the neuropsychological profile of patients harbouring mutations in SPG11.
Assuntos
Corpo Caloso/patologia , Mutação/genética , Paraparesia Espástica , Proteínas/genética , Adolescente , Transtornos Cognitivos/etiologia , Transtornos Cognitivos/genética , Transtornos Cognitivos/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Testes Neuropsicológicos , Paraparesia Espástica/complicações , Paraparesia Espástica/genética , Paraparesia Espástica/patologiaRESUMO
Cerebro-fronto-facial syndrome had only recently been described in 2001. We present a boy who has dysmorphic features similar to the case described by Der Kaloustian et al. (2001) and propose that he represents a further case of this syndrome.