scholarly journals Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease

Brain ◽  
2011 ◽  
Vol 134 (11) ◽  
pp. 3384-3397 ◽  
Author(s):  
H. Schmidt ◽  
M. Zeginigg ◽  
M. Wiltgen ◽  
P. Freudenberger ◽  
K. Petrovic ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Genetic Variants ◽  
Small Vessel Disease ◽  
The Elderly ◽  
Cerebral Small Vessel Disease ◽  
Small Vessel ◽  
Resonance Imaging ◽  
Vessel Disease ◽  
Age Related

scholarly journals Magnetic resonance imaging manifestations of cerebral small vessel disease

2020 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Lei Zhao ◽  
Allan Lee ◽  
Yu-Hua Fan ◽  
Vincent C.T. Mok ◽  
Lin Shi
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Small Vessel Disease ◽  
Cerebral Small Vessel Disease ◽  
Small Vessel ◽  
Resonance Imaging ◽  
Vessel Disease

scholarly journals Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population

Stroke ◽  
2020 ◽  
Vol 51 (12) ◽  
pp. 3562-3569 ◽  
Author(s):  
Remco J. Hack ◽  
Julie W. Rutten ◽  
Thomas N. Person ◽  
Jiang Li ◽  
Ayesha Khan ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Elderly Population ◽  
Autosomal Dominant ◽  
Small Vessel Disease ◽  
Brain Magnetic Resonance Imaging ◽  
The Elderly ◽  
Small Vessel ◽  
Resonance Imaging ◽  
Vessel Disease

Background and Purpose: Cysteine altering NOTCH3 variants, which have previously been exclusively associated with the rare hereditary small vessel disease cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, have a population frequency of 1:300 worldwide. Using a large population database, and taking genotype as a starting point, we aimed to determine whether individuals harboring a NOTCH3 cysteine altering variant have a higher load of small vessel disease markers on brain magnetic resonance imaging than controls, as well as a higher risk of stroke and cognitive impairment. Methods: A cross-sectional study using integrated clinical, neuroimaging, and whole-exome sequencing data of 92 456 participants from the Geisinger DiscovEHR initiative cohort. The case group consisted of individuals harboring a NOTCH3 cysteine altering variant (n=118). The control group consisted of randomly selected age- and sex-matched individuals who did not have any nonsynonymous variants in NOTCH3 (n=184). Medical records including brain magnetic resonance imagings were evaluated for clinical and neuroimaging findings associated with small vessel disease. Group comparisons were done using Fisher exact test and ordinal logistic regression models. Risk of stroke was assessed using Cox regression. Results: Of the 118 cases, 39.0% were men, mean age 58.1±16.9 years; 12.6% had a history of stroke, compared with 4.9% of controls. The risk of stroke was significantly increased after age 65 years (hazard ratio, 6.0 [95% CI, 1.4–26.3]). Dementia, mild cognitive impairment, migraine with aura and depression were equally prevalent in cases and controls. Twenty-nine cases (25%) and 45 controls (24%) had an available brain magnetic resonance imaging. After age 65 years, cases had a higher white matter lesion burden and more lacunes. A severe small vessel disease phenotype compatible with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy was rarely seen. Conclusions: Cysteine altering NOTCH3 variants are an important contributor to the risk of stroke, lacunes, and white matter hyperintensities in the elderly population.

scholarly journals Reproducibility and variability of quantitative magnetic resonance imaging markers in cerebral small vessel disease

2016 ◽  
Vol 36 (8) ◽  
pp. 1319-1337 ◽  
Author(s):  
François De Guio ◽  
Eric Jouvent ◽  
Geert Jan Biessels ◽  
Sandra E Black ◽  
Carol Brayne ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Small Vessel Disease ◽  
Cerebral Small Vessel Disease ◽  
Small Vessel ◽  
Perivascular Spaces ◽  
Resonance Imaging ◽  
Cross Sectional ◽  
Vessel Disease ◽  
Imaging Markers

Brain imaging is essential for the diagnosis and characterization of cerebral small vessel disease. Several magnetic resonance imaging markers have therefore emerged, providing new information on the diagnosis, progression, and mechanisms of small vessel disease. Yet, the reproducibility of these small vessel disease markers has received little attention despite being widely used in cross-sectional and longitudinal studies. This review focuses on the main small vessel disease-related markers on magnetic resonance imaging including: white matter hyperintensities, lacunes, dilated perivascular spaces, microbleeds, and brain volume. The aim is to summarize, for each marker, what is currently known about: (1) its reproducibility in studies with a scan–rescan procedure either in single or multicenter settings; (2) the acquisition-related sources of variability; and, (3) the techniques used to minimize this variability. Based on the results, we discuss technical and other challenges that need to be overcome in order for these markers to be reliably used as outcome measures in future clinical trials. We also highlight the key points that need to be considered when designing multicenter magnetic resonance imaging studies of small vessel disease.

scholarly journals Large Perivascular Spaces Visible on Magnetic Resonance Imaging, Cerebral Small Vessel Disease Progression, and Risk of Dementia

2017 ◽  
Vol 74 (9) ◽  
pp. 1105 ◽  
Author(s):  
Jie Ding ◽  
Sigurður Sigurðsson ◽  
Pálmi V. Jónsson ◽  
Gudny Eiriksdottir ◽  
Andreas Charidimou ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Disease Progression ◽  
Small Vessel Disease ◽  
Cerebral Small Vessel Disease ◽  
Small Vessel ◽  
Perivascular Spaces ◽  
Resonance Imaging ◽  
Vessel Disease
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