16 research outputs found
Association of the ADA gene functional polymorphism RS73598374 with anxiety disorders in patients with temporal lobe epilepsy
Variantes do gene adenosine deaminase (ADA1) e possível associação com aumento do risco de distúrbios do humor em pacientes com epilepsia do lobo temporal
Aspectos de neuro-imagem de CLIPPERS - chronic lymphocytic inflammation withpontine perivascular enhancement responsive to steroids - e um relato de caso em paciente brasileiro
Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy – CADASIL
We report here neuroimaging findings of a 41 years-old female with molecular diagnosis of CADASIL (Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). CADASIL, the most common form of hereditary stroke, is characterized by headaches and relapsing strokes. More than 95% of patients present mutations of NOTCH3 gene. MRI, the best neuroimaging modality to investigate CADASIL can show lacunar infarcts and less-well demarcated T2 weighted hyperintensities characteristically located in subcortical white matter. There is no specific treatment for CADASIL. Anti-platelet agents such as aspirin might help to prevent new strokes. Other symptoms, like headache, seizures, or other neuropsychiatric manifestations should be appropriately treated