[Study of intracerebral focus changes on CADASIL by using MR imaging].

OBJECTIVE: To investigate dynamic changes of intracerebral focus on cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: Using the modified Scheltens scale, the magnetic resonance (MR) changes of lesion distribution, size and shape in 7 patients from a CADASIL family were retrospectively analyzed during 3 years observed. RESULTS: In 6 of 7 patients, the number and volume of lesion areas in the white matter were increased (parietal lobe, n = 6; temporal lobe, n = 5; frontal lobe, n = 3; occipital lobe, n = 2) and some areas even became confluent as a mass or chain. New lacunar infarcts (n = 1 - 5) appeared in 5 patients and the arcuate fiber were involved in 1 patients. Slight enlargement could be seen in lateral ventricle (n = 1) or lateral ventricle with third ventricle (n = 1). CONCLUSION: MR imaging can help us to reveal dynamic changes of brain lesions and prognosis in patients with CADASIL.

[The cerebral hemodynamics in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].

OBJECTIVE: To investigate the cerebral hemodynamics in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: The blood flow velocity of cerebral arteries was measured by using transcranial Doppler ultrasound (TCD) in 6 cases with CADASIL and a quite number of age and sex matched control subjects. All patients (4 were symptomatic and 2 asymptomatic), being an established CADASIL family with the diagnosis confirmed by clinical characteristics, neuroimaging, pathology and molecular genetics, had abnormal mark signals on MR imagining and no history of hypertension, diabetes, heart disease and migraine. A routinely TCD detection, including peak-systolic velocity (Vp), end-diastolic velocity (Vd), mean velocity (Vm) and pulsatility index (PI), was carried out on the bilateral middle cerebral arteries (MCA), anterior cerebral arteries (ACA), posterior cerebral arteries (PCA) and vertebral arteries (VA) as well as the basilar artery (BA). A comparison between the cases and controls was made. Then, the changes of flow velocity in middle cerebral arteries (MCA) of the patients with CADASIL were observed before and after breathholding tests. In addition, brain CT perfusion imaging (CTP) was carried out in all the cases by using 16-slice spiral CT. RESULTS: The appearances of frequency spectrum were nearly normal in all the cases and there was no abnormality between the two sides on velocity (P > 0.05). As compared with the controls, the bilateral Vp, Vd and Vm in ACA and PCA were decreased obviously (P < 0.05). The velocity parameters of MCA with the exception of left Vm and right PI showed changes (P < 0.05) and there were no changes of PI in the bilateral ACA, PCA and Left MCA (P > 0.05). Moreover, there were marked changes in MCA (including Vm, Vd and PI) of all the cases as compared with the controls after breathholding (P < 0.01). Brain perfusion imaging showing the regional cerebral blood flow and regional cerebral blood volume in frontal lobes were obviously decreasing (P < 0.01) and there was no significant variation of mean transit time (MTT). CONCLUSIONS: The characteristic hemodynamic changes in our group is the decreasing flow velocity in bilateral ACA, PCA and MCA and the dominating low flow area occurring usually in frontal and temporal lobes. These changes are in conformity with the ischemic area shown in pathology and neuroimaging in CADASIL patients.

[A study of subcortical infarcts and leukoencephalopathy (CADASIL) in a family with autosomal cerebral dominant arteriopathy].

OBJECTIVE: To investigate the clinical features, hereditary pattern, neuroimaging characteristics and diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: A systematic study on the clinical manifestations, neuroimaging characteristics, pathology and molecular genetics was performed. An investigation on the onset and hereditary pattern of the family tree of the proband was also done. RESULTS: The main clinical features of the proband including history of recurrent ischemic stroke, poor memory/cognition or dementia were noted. Fifteen cases pertaining to 4 generations of the proband with clinical or subclinical onset and confirmed classical family history of autosomal dominant hereditary were studied. Neuroimaging examination showed subcortical multiinfarct lesions and leukoencephalopathy. Electron microscope examination of the skin. Biopsy indicated thickening of basement membrane and presence of granular osmiophilic material (GOM) in the arterioles. A mutation on the fourth exon of notch 3 gene was revealed. Migraine, hypertension, diabetes and risk factors of arteriosclerosis were not found. All the features mentioned above in this family are in conformity with the diagnostic standard of CADASIL. CONCLUSIONS: It is possible to define CADASIL clinically by way of studying the clinical features, hereditary pattern, neuroimaging characteristics, skin biopsy and sequencing of gene without resorting to brain biopsy.