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Patterns of MRI lesions in CADASIL
H Chabriat1, C Levy, H Taillia
1Service de Neurologie, Hôpital Lariboisière, Paris, France.
Insights
MRI abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are common, particularly in white matter and basal ganglia. Lesion severity increases with age and is higher in symptomatic patients.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited condition characterized by MRI signal abnormalities.
- These abnormalities are linked to Notch 3 gene mutations and are present in both symptomatic and asymptomatic individuals.
Purpose of the Study:
- To determine the location and severity of MRI signal abnormalities in patients with CADASIL.
- To correlate MRI findings with clinical symptoms and age.
Main Methods:
- Review of MRIs from 75 patients (43 symptomatic) by a masked neuroradiologist.
- Assessment of T1- and T2-weighted image lesions in subcortical regions (white matter, basal ganglia, infratentorial areas).
- Severity scoring of hyperintensities using global and regional scales.
Main Results:
- 90% of patients showed white matter hyperintensities, predominantly in periventricular (96%) and deep white matter (85%).
- Basal ganglia (60%) and brainstem (45%) also showed abnormalities; 62% had T1 hypointensities.
- Lesion frequency and severity increased with age and were higher in symptomatic patients; diffuse white matter abnormalities correlated with dementia or high Rankin scores.
Conclusions:
- Subcortical areas exhibit varying vulnerability to ischemia in CADASIL.
- Age is associated with lesion accumulation, suggesting disease progression.
- Further prospective studies are needed to assess the prognostic value of MRI lesion ratings in CADASIL.
Objective:
To investigate the location and severity of MRI signal abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Background:
One hallmark of this arteriopathy due to mutations of Notch 3 gene is the presence of MRI signal abnormalities in both symptomatic and asymptomatic patients.
Methods:
MRIs of 75 patients (43 with symptoms) were reviewed by a neuroradiologist masked to their clinical status. After assessing the presence of MRI lesions on T1- and T2-weighted images (T1-WI, T2-WI) in different subcortical regions, the severity of hyperintensities on T2-WI was scored using a global rating scale and a regional semiquantitative scale in the periventricular white matter (PV), deep white matter (WM), basal ganglia (BG), and infratentorial areas (IT).
Results:
Sixty-eight patients (90%) had hyperintensities on T2-WI located in the white matter, more frequent in PV (96%) and WM (85%) than in the superficial white matter (25%). Hyperintensities also occurred in BG (60%) and brainstem (45%). Forty-seven patients (62%) presented with hypointensities on T1-WI. In one-third of the affected individuals, white matter hyperintensities occurred in the absence of small deep infarcts on T1-WI. The frequency and severity scores calculated for PV, WM, BG, or IT hyperintensities increase dramatically with age. These scores were higher in symptomatic compared with asymptomatic gene carriers. Dementia, Rankin score > 1, or both occurred only in the presence of diffuse white matter signal abnormalities.
Conclusion:
Our results suggest that different subcortical areas have different vulnerabilities to ischemia in CADASIL. The age effect we observed may show an accumulation of lesions with aging during the course of the disease. A prospective study is needed to investigate if the rating of MRI lesions is of prognostic value in CADASIL.