Assuntos
Alopecia/diagnóstico , Alopecia/genética , Infarto Cerebral/diagnóstico , Infarto Cerebral/genética , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/genética , Serina Endopeptidases/genética , Doenças da Coluna Vertebral/diagnóstico , Doenças da Coluna Vertebral/genética , Alopecia/terapia , Animais , Infarto Cerebral/terapia , Serina Peptidase 1 de Requerimento de Alta Temperatura A , Humanos , Leucoencefalopatias/terapia , Mutação/genética , Doenças da Coluna Vertebral/terapiaRESUMO
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an autosomal recessive hereditary cerebral artery disease in the adolescence,and its main clinical manifestations are dementia,stroke,low back pain and alopecia.At present,most cases are from Japan.3-6 exon point mutations in the HTRA1 gene are associated with the onset of CARASIL.Brain histopathological examination showed a small arterial intimal thickening medial smooth muscle cell loss and hyalinization.Brain MRI showed a diffuse white matter abnormal signal and multiple subcortical infarcts.The diagnosis mainly depends on the characteristic clinical symptoms,imaging characteristics and genetic testing.It should be differentiated from cerebral autosomal dominant arteriopathy with sulcortical infarcts and leucoencephalopathy.
