Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy.
Andria L FordVictoria W ChinSlim FellahMichael M BinkleyAllie M BodinVamshi BalasettiYewande TaiwoPeter KangDoris LinJoanna C JenM Gilbert GrandMadonna BogackiM Kathryn LiszewskiDennis HourcadeYasheng ChenJason HassenstabJin-Moo LeeHongyu AnJonathan J MinerJohn P AtkinsonPublished in: Neurology (2020)
RVCL-S is a monogenic microvasculopathy affecting predominantly the white matter with regard to atrophy and cognitive impairment. White matter volumes in RVCL-S declined linearly, providing a potential metric against which to test the efficacy of future therapies. Progressive elevation of white matter OEF suggests that microvascular ischemia may underlie neurodegeneration in RVCL-S.