Cerebrovascular reactivity in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Issue 4 (April 2021)

• Record Type: Journal Article
• Authors: Hoogeveen, Evelien S; Pelzer, Nadine; Ghariq, Eidrees; van Osch, Matthias JP; Dahan, Albert; Terwindt, Gisela M; Kruit, Mark C
• Is Part Of: Journal of cerebral blood flow & metabolism. Volume 41:Issue 4(2021)
• Page Start: 831
• Page End: 840
• Publication Date: 2021-04
• Subjects: Cerebrovascular circulation -- cerebrovascular disorders -- leukoencephalopathies -- magnetic resonance imaging -- mutation; Cerebral circulation -- Periodicals; Brain -- Metabolism -- Periodicals; Brain -- Blood-vessels -- Periodicals; Cerebrovascular disease -- Periodicals; 612.824
• DOI: 10.1177/0271678X20929430
• Languages: English
• ISSNs: 0271-678X

Abstract

Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S) is a small vessel disease caused by TREX1 mutations. RVCL-S is characterized by retinal vasculopathy and brain white matter lesions with and without contrast enhancement. We aimed to investigate cerebrovascular reactivity (CVR) in RVCL-S. In this cross-sectional observational study, 21 RVCL-S patients, 23 mutation-negative family members, and 31 healthy unrelated controls were included. CVR to a hypercapnic challenge was measured using dual-echo arterial spin labeling magnetic resonance imaging. Stratified analyses based on age were performed. We found that CVR was decreased in gray and white matter of RVCL-S patients compared with family members and healthy controls (ANCOVA; P < 0.05 for all comparisons). This was most noticeable in RVCL-S patients aged ≥40 years (ANCOVA, P < 0.05 for all comparisons). In RVCL-S patients aged < 40 years, only CVR in white matter was lower when compared to healthy controls ( P < 0.05). Gray matter CVR was associated with white matter lesion volume in RVCL-S patients ( r = –0.527, P = 0.01). In conclusion, impaired cerebrovascular reactivity may play an important role in the pathophysiology of RVCL-S and may be an useful early biomarker of cerebrovascular disease severity.