Myotonic dystrophy type 1 with anterior temporal white matter changes mimicking cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

@#Myotonic dystrophy type 1 is the most common type of muscular dystrophy in adults characterized by progressive myopathy, myotonia, and occasional systemic involvement. This is a case of myotonic dystrophy type 1 with cognitive decline showing brain magnetic resonance image abnormality mimicking cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Neuroimaging study of CADASIL pedigree with performance of familial migraine / 中国神经精神疾病杂志

Objective To analysis the MRI features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), to improve the understanding of MRI manifestations of this disease. Meth?ods The clinical manifestations, neuroimaging analysis and genetic analysis were performed in the CADASIL pedigree proband and his families. Results Five of six cases were confirmed with C2182T mutation on exon 14 of the NOTCH3, of which three cases were diagnosed by MRI. Brain MRI findings included bilateral symmetric distributed confluent lesions in the subcortical and periventricular white matter in the frontal lobe, hypointensity on T1WI and hyperintensity on both T2WI and T2 FLAIR imaging in four cases. The external capsule was involved in three cases, with hyperintensity on T2WI. Subcortical lacunar lesions (SLLs) were shown in three cases. Lacunar infarction in the basal ganglia and thalamus were presented in four cases. T2WI hyperintensity at the brain stem was found in two cases. Cerebral microbleeds were re?vealed in three cases. There was no O’Sullivan sign in all the six cases. Conclusions There is characteristic change of MRI in CADASIL patients, which may play a very important role in screening these cases.

Topographical Distribution of Lacunes and Cerebral Microbleeds in CADASIL Affected by Hypertension

BACKGROUND: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by mutations in the Notch3 gene. Lacunes may reflect occlusive type microangiopathy. However, cerebral microbleeds (CMBs) may reflect bleeding-prone microangiopathy. In the present study, we aimed to determine whether hypertension influence the distribution and severity of lacunes and CMBs in patients with CADASIL. METHODS: The study population comprised 85 patients who underwent brain MRI, including T1-weighted image, susceptibility weighted image (SWI), and fluid attenuated inversion recovery (FLAIR) image. The patients were divided into two groups depending on the presence or absence of hypertension. In the first, demographic factors, and MRI findings were compared between CADASIL patients with and without hypertension. In the second, we undertook a region by region comparison of number of patients with lacunes or CMBs. RESULTS: The hypertensive group showed a higher incidence of CMBs in lobar area (p<0.001) and basal ganglia (p=0.014). CMBs tend to be observed more frequently in the thalamus (p=0.058), brainstem (p=0.057), and cerebellum (p=0.052) in the hypertensive group. However, hypertensive group demonstrated a higher incidence of lacunes just in lobar area (p=0.040). CONCLUSIONS: Our findings suggest that CMBs may be a more sensitive neuroimaging marker of hypertensive arteriopathy in patients with CADASIL.

The Association Between Hypertension and Cerebral Microbleeds in Patients With CADASIL

BACKGROUND: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited microangiopathy that is caused by mutations in the Notch3 gene. Typical findings from magnetic resonance imaging (MRI) include multiple subcortical lacunae, extensive white-matter change, and multiple cerebral microbleeds (CMBs). CMBs are indicative of bleeding-prone microangiopathy. The rate of intracerebral hemorrhage in CADASIL is higher in Asian patients than in Caucasian patients. However, CMBs have not been thoroughly evaluated in Asian patients. We performed a detailed analysis of the frequency and distribution pattern of CMBs and assessed whether vascular risk factors exert an independent effect on CMBs in Asian CADASIL patients. METHODS: The study population comprised 60 patients who underwent brain MRI, including T2*-weighted gradient-echo sequences. Demographic factors, vascular risk factors, and MRI findings were compared between CADASIL patients with and without CMBs. The impact of vascular risk factors on CMBs, lacunae, and white-matter hyperintensities (WMHs) was assessed by logistic regression analysis. RESULTS: CMBs, which were detected in 34 (56.7%) patients, exhibited a significant predilection for the thalamus (46.7%), subcortical-cortical region (35.0%), and basal ganglia (31.7%). Hypertension, lacunae, and white-matter lesions were more common in patients with CMBs. Hypertension was an independent risk factor for CMBs, lacunae, and WMHs in patients with CADASIL. CONCLUSIONS: This study found that CMBs tended to occur in hypertensive patients with CADASIL. Further studies should focus on elucidating the association between reduced blood pressure and the number of CMBs.

Clinical and MRI Profiles Predicting Clinical Overt Stroke in Patients with CADASIL

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited arteriopathy caused by mutation in the Notch 3 gene. Cognitive impairment, which is the second most frequent clinical manifestation, worsens with recurrent stroke. Comparison studies between the pre- and poststroke phases in CADASIL have not yet been performed in Asia. Here we describe the clinical characteristics of both the preand poststroke phases and identified the risk factors for stroke in CADASIL. METHODS: Fifty-three consecutive patients were investigated. Patients were divided into two groups depending on the presence (poststroke group; n=31) or absence (prestroke group; n=22) of clinically overt stroke. All patients underwent an MRI scan with the same protocol. Cognition was assessed by applying detailed neuropsychological tests. RESULTS: The poststroke group exhibited an increase in lacunae and cerebral microbleeds. The memory scores on the Alzheimer's Dementia Assessment Scale cognitive subscale and the number of correct Stroop color-naming scores were lower in the poststroke group than in the prestroke group. Hypertension was more prevalent in the poststroke group, while chronic headache was more prevalent in the prestroke group. CONCLUSIONS: These findings suggest that cerebral microbleeds as well as lacunae predict the risk of clinically overt stroke, which leads to a worsening of frontal-lobe function in CADASIL.