Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy is an autosomal- dominant hereditary small-artery vasculopathy caused by mutations in the notch3 gene on chromosome 19. Clinically, the disease is characterized by migraine with aura, strokes and progressive subcortical dementia, and mood disturbances. MRI in these patients shows focal lacunar infarcts and leukoaraiosis. Lesion load increases with age. Besides familial anamnesis and clinical history, structural MRI changes in these patients help to suggest the diagnosis by showing characteristic hyperintense T2 or fluid-attenuated inversion recovery lesions, which predominate in the frontal, parietal, and anterior temporal cortexes and in the external capsule [60]. Diagnosis is confirmed by skin biopsy or detection of a pathogenic notch3 mutation on direct sequencing. CT Head Most acute stroke patients undergo brain imaging by unenhanced CT head to evaluate for size, territory, and acuity of infarct to exclude hemorrhage and evaluate for stroke mimics (such as brain tumors). Furthermore, the presence and severity of white matter changes and brain atrophy can also be readily determined from CT head imaging. CT head with IV contrast is not needed to evaluate VaD. CTA Head CT angiography (CTA) is a sensitive modality and may be used as an alternative to MR angiography (MRA) to detect vascular occlusion or stenosis intracranially. However, vascular imaging is not needed to make a diagnosis of VaD; rather, the diagnosis relies on clinical criteria and evidence of end organ damage in the brain. FDG-PET/CT Brain FDG-PET/CT in VaD can show multiple focal cortical and subcortical metabolic defects, a pattern different from AD and may be useful in differentiating the two entities in the demented patient [61]; however, it is not a first-line imaging test. MR Spectroscopy Head MR spectroscopy shows injury to the axons by measuring the levels of NAA and Cr [62,63].
Dementia. Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy is an autosomal- dominant hereditary small-artery vasculopathy caused by mutations in the notch3 gene on chromosome 19. Clinically, the disease is characterized by migraine with aura, strokes and progressive subcortical dementia, and mood disturbances. MRI in these patients shows focal lacunar infarcts and leukoaraiosis. Lesion load increases with age. Besides familial anamnesis and clinical history, structural MRI changes in these patients help to suggest the diagnosis by showing characteristic hyperintense T2 or fluid-attenuated inversion recovery lesions, which predominate in the frontal, parietal, and anterior temporal cortexes and in the external capsule [60]. Diagnosis is confirmed by skin biopsy or detection of a pathogenic notch3 mutation on direct sequencing. CT Head Most acute stroke patients undergo brain imaging by unenhanced CT head to evaluate for size, territory, and acuity of infarct to exclude hemorrhage and evaluate for stroke mimics (such as brain tumors). Furthermore, the presence and severity of white matter changes and brain atrophy can also be readily determined from CT head imaging. CT head with IV contrast is not needed to evaluate VaD. CTA Head CT angiography (CTA) is a sensitive modality and may be used as an alternative to MR angiography (MRA) to detect vascular occlusion or stenosis intracranially. However, vascular imaging is not needed to make a diagnosis of VaD; rather, the diagnosis relies on clinical criteria and evidence of end organ damage in the brain. FDG-PET/CT Brain FDG-PET/CT in VaD can show multiple focal cortical and subcortical metabolic defects, a pattern different from AD and may be useful in differentiating the two entities in the demented patient [61]; however, it is not a first-line imaging test. MR Spectroscopy Head MR spectroscopy shows injury to the axons by measuring the levels of NAA and Cr [62,63].