Neuropathology and genetics of cerebroretinal vasculopathies.
作者： Grant R. Kolar , Parul H. Kothari , Negar Khanlou , Joanna C. Jen , Robert E. Schmidt
DOI: 10.1111/BPA.12178
关键词:
摘要: Cerebroretinal vasculopathy (CRV) and the related diseases hereditary endotheliopathy with retinopathy, neuropathy, stroke (HERNS), vascular retinopathy (HVR) systemic angiopathy (HSA) [subsequently combined as retinovasculopathy cerebral leukodystrophy (RVCL)] are devastating autosomal-dominant disorders of early to middle-age onset presenting a core constellation neurologic ophthalmologic findings. This family is linked by specific mutations targeting region gene. Frameshift in carboxyl-terminus three prime exonuclease-1 (TREX1), major mammalian 3' 5' DNA exonuclease on chromosome 3p21.1-p21.3, result that follows an approximately 5-year course leading death secondary progressive decline, sometimes more protracted HERNS. Neuropathological features include fibrinoid necrosis or thickened hyalinized vessels associated white matter ischemia, often striking dystrophic calcifications. Ultrastructural studies vessel walls demonstrate unusual multilaminated basement membranes.
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