Dataset Information

MRI-visible dilated perivascular spaces in healthy young adults: A twin heritability study.

ABSTRACT: We investigated the narrow-sense heritability of MRI-visible dilated perivascular spaces (dPVS) in healthy young adult twins and nontwin siblings (138 monozygotic, 79 dizygotic twin pairs, and 133 nontwin sibling pairs; 28.7?±?3.6?years) from the Human Connectome Project. dPVS volumes within basal ganglia (BGdPVS) and white matter (WMdPVS) were automatically calculated on three-dimensional T2-weighted MRI. In univariate analysis, heritability estimates of BGdPVS and WMdPVS after age and sex adjustment were 65.8% and 90.2%. In bivariate analysis, both BGdPVS and WMdPVS showed low to moderate genetic correlations (.30-.43) but high shared heritabilities (71.8-99.9%) with corresponding regional volumes, intracranial volumes, and other regional dPVS volumes. Older age was significantly associated with larger dPVS volume in both regions even after adjusting for clinical and volumetric variables, while blood pressure was not associated with dPVS volume although there was weak genetic correlation. dPVS volume, particularly WMdPVS, was highly heritable in healthy young adults, adding evidence of a substantial genetic contribution in dPVS development and differential effect by location. Age affects dPVS volume even in young adults, while blood pressure might have limited role in dPVS development in its normal range.

SUBMITTER: Choi Y

PROVIDER: S-EPMC7670636 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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MRI-visible dilated perivascular spaces in healthy young adults: A twin heritability study.

Choi Yangsean Y Nam Yoonho Y Choi Yera Y Kim Jiwoong J Jang Jinhee J Ahn Kook Jin KJ Kim Bum-Soo BS Shin Na-Young NY

Human brain mapping 20200908 18

We investigated the narrow-sense heritability of MRI-visible dilated perivascular spaces (dPVS) in healthy young adult twins and nontwin siblings (138 monozygotic, 79 dizygotic twin pairs, and 133 nontwin sibling pairs; 28.7 ± 3.6 years) from the Human Connectome Project. dPVS volumes within basal ganglia (BGdPVS) and white matter (WMdPVS) were automatically calculated on three-dimensional T2-weighted MRI. In univariate analysis, heritability estimates of BGdPVS and WMdPVS after age and sex adju ...[more]

PMID: 32897599

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Project description:BackgroundMagnetic resonance imaging-visible perivascular spaces (PVS) are related to interstitial fluid clearance pathways (including amyloid-?) in the brain and are suggested to be a marker of cerebral small vessel disease. We investigated the role, topography, and possible implications of PVS in cognitive impairment.Methods and resultsA total of 1504 patients undergoing memory clinic investigation and an associated brain magnetic resonance imaging scan were included in this cross-sectional study. Magnetic resonance images were assessed for markers of small vessel disease. Additionally, 1039 patients had cerebrospinal fluid analysis of amyloid-? 42, total tau (T-tau), and phosphorylated tau (P-tau); 520 patients had apoE genotyping done. Results were analyzed with generalized linear models. A total of 289 (19%; 95% confidence interval, 17-21) had a high-grade PVS in the centrum semiovale (CSO) and 65 (4%; 95% confidence interval: 3%-5%) in the basal ganglia (BG). Centrum semiovale- and BG-PVS were both associated with high age (P<0.001), hypertension (P<0.001), probable cerebral amyloid angiopathy (P<0.05), moderate-to-severe white matter hyperintensities (P<0.001), cortical superficial siderosis (P<0.001), cerebral microbleeds (P<0.001), and PVS. centrum semiovale-PVS was separately associated with strictly lobar cerebral microbleeds (P=0.057). BG-PVS was associated with strictly deep cerebral microbleeds (P<0.001), lacunes (P<0.001), and vascular dementia (P=0.04). BG-PVS showed a tendency to be associated with high cerebrospinal fluid tau (B=0.002, P=0.04) in the whole cohort and in Alzheimer's disease (B=0.005; P=0.02). No other associations with cerebrospinal fluid or the apoE e4 allele was observed.ConclusionsCentrum semiovale-PVS and BG-PVS have different underlying etiology, being associated with cerebral amyloid angiopathy and hypertensive vasculopathy, respectively, although a significant overlap between these pathologies is likely to exist.

Project description:BackgroundPerivascular spaces (PVS) are an important component of cerebral small vessel disease (SVD), several inflammatory disorders, hypertension and blood-brain barrier breakdown, but are difficult to quantify. A recent international collaboration of SVD experts has highlighted the need for a robust, easy-to-use PVS rating scale for the effective investigation of the diagnostic and prognostic significance of PVS. The purpose of the current study was to develop and extend existing PVS scales to provide a more comprehensive scale for the measurement of PVS in the basal ganglia, centrum semiovale and midbrain, and to test its intra- and inter-rater agreement, assessing reasons for discrepancy.MethodsWe reviewed previously published PVS scales, including site of PVS assessed, rating method, and size and morphological criteria. Retaining key features, we devised a more comprehensive scale in order to improve the reliability of PVS rating. Two neuroradiologists tested the new scale in MRI brain scans of 60 patients from two studies (stroke, ageing population), chosen to represent a full range of PVS, and demonstrating concomitant features of SVD such as lacunes and white matter hyperintensities. We rated basal ganglia, centrum semiovale, and midbrain PVS. Basal ganglia and centrum semiovale PVS were rated 0 (none), 1 (1-10), 2 (11-20), 3 (21-40) and 4 (>40), and midbrain PVS were rated 0 (none visible) or 1 (visible). We calculated kappa statistics for rating, assessed consistency in use of PVS categories (Bhapkar test) and reviewed sources of discrepancy.ResultsIntra- and inter-rater kappa statistics were highest for basal ganglia PVS (range 0.76-0.87 and 0.8-0.9, respectively) than for centrum semiovale PVS (range 0.68-0.75 and 0.61-0.8, respectively) or midbrain PVS (inter-rater range 0.51-0.52). Inter-rater consistency was better for basal ganglia compared to centrum semiovale PVS (Bhapkar statistic 2.49-3.72, compared to 6.79-21.08, respectively). Most inter-rater disagreements were due to very faint PVS, coexisting extensive white matter hyperintensities (WMH) or the presence of lacunes.ConclusionsWe developed a more inclusive and robust visual PVS rating scale allowing rating of all grades of PVS severity on structural brain imaging. The revised PVS rating scale has good observer reliability for basal ganglia and centrum semiovale PVS, best for basal ganglia PVS, and moderate reliability for midbrain PVS. Agreement is influenced by PVS severity and the presence of background features of SVD. The current scale can be used in further studies to assess the clinical implications of PVS.

Dataset Information

MRI-visible dilated perivascular spaces in healthy young adults: A twin heritability study.

Publications

MRI-visible dilated perivascular spaces in healthy young adults: A twin heritability study.

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