Cysteine-Altering
Adult
Age Factors
Aged
CADASIL
/ genetics
Cerebral Small Vessel Diseases
/ diagnostic imaging
Cysteine
/ genetics
Female
Genetic Predisposition to Disease
Humans
Ischemic Attack, Transient
/ genetics
Magnetic Resonance Imaging
Male
Middle Aged
Mutation, Missense
Proportional Hazards Models
Protein Domains
Receptor, Notch3
/ genetics
Stroke
/ genetics
control group
cysteine
neuroimaging
phenotype
white matter
Journal
Stroke
ISSN: 1524-4628
Titre abrégé: Stroke
Pays: United States
ID NLM: 0235266
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
pubmed:
10
11
2020
medline:
18
2
2021
entrez:
9
11
2020
Statut:
ppublish
Résumé
Cysteine altering 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 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. Cysteine altering
Sections du résumé
BACKGROUND AND PURPOSE
Cysteine altering
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
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
Identifiants
pubmed: 33161844
doi: 10.1161/STROKEAHA.120.030343
pmc: PMC7678653
doi:
Substances chimiques
NOTCH3 protein, human
0
Receptor, Notch3
0
Cysteine
K848JZ4886
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
3562-3569Commentaires et corrections
Type : CommentIn
Type : ErratumIn
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