Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation

Although cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common single-gene disorder of cerebral small blood vessels caused by NOTCH3 mutations, little has been described about the variation in the clinical findings between its underly...

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Bibliographic Details
Published in:PloS one 2015-02, Vol.10 (2), p.e0118163-e0118163
Main Authors: Lee, Jung Seok, Kang, Chul-Hoo, Park, Sukh Que, Choi, H Alex, Sim, Ki-Bum
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Basal ganglia
Basal Ganglia - pathology
Blood vessels
Brain
Brain stem
CADASIL - complications
CADASIL - genetics
CADASIL - pathology
Cerebellum
Cerebellum - pathology
Cerebral Hemorrhage - genetics
Cerebral Hemorrhage - pathology
Clinical significance
Diabetes
Epidemiology
Female
Ganglia
Genetic aspects
Genotypes
Health risks
Hemorrhage
Hospitals
Humans
Hypertension
Hypertension - epidemiology
Ischemia
Lesions
Leukoencephalopathy
Logistic Models
Magnetic resonance
Magnetic resonance imaging
Male
Medical imaging
Medicine
Middle Aged
Mutation
Neuroimaging
Neurology
Neurosurgery
NMR
Nuclear magnetic resonance
Patients
Prospective Studies
Receptor, Notch3
Receptors, Notch - genetics
Risk analysis
Risk Factors
Stroke
Stroke - pathology
Stroke patients
Studies
Thalamus
Transient ischemic attack
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Summary:Although cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common single-gene disorder of cerebral small blood vessels caused by NOTCH3 mutations, little has been described about the variation in the clinical findings between its underlying types of mutations. In particular, the presence of cerebral microbleeds (CMBs) has been an increasingly recognized magnetic resonance imaging finding in CADASIL, but their clinical significance is not clear. The purpose of this study is to assess whether CMBs are associated with symptomatic stroke in the CADASIL patients with R544C mutation and to compare the cerebral distribution of CMBs between CADASIL patients with and without symptomatic stroke. This is a cohort study of patients who were diagnosed with genotype-confirmed R544C-mutation CADASIL. Primary neurologic symptoms were recorded. Symptomatic strokes were defined as transient ischemic attack, ischemic strokes and hemorrhagic strokes. CMBs were defined as focal areas of round signal loss on T2*-weighted gradient echo planar images with a diameter of less than 10 mm. The locations of CMBs were divided into lobar, basal ganglia, thalamus, brain stem and cerebellum. Multiple logistic regressions were performed to identify the epidemiologic or vascular risk factors associated with symptomatic stroke in patients with CADASIL. Among total of 51 subjects in this cohort, CMBs were present in 20 of 32 patients (64.5%) in the symptomatic stroke-group and in 8 of 19 patients (42.1%) in the non-stroke group (p = 0.16). CMBs were observed more frequently in the basal ganglia (p
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0118163