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This family of diseases is linked by specific mutations targeting a core region of a gene. Frameshift mutations in the carboxyl\u2010terminus of <jats:styled-content>t<\/jats:styled-content>hree <jats:styled-content>p<\/jats:styled-content>rime <jats:styled-content>e<\/jats:styled-content>xonuclease\u2010<jats:styled-content>1<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">TREX<\/jats:styled-content>1), the major mammalian 3\u2032 to 5\u2032 <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> exonuclease on chromosome 3p21.1\u2010p21.3, result in a systemic vasculopathy that follows an approximately 5\u2010year course leading to death secondary to progressive neurologic decline, with sometimes a more protracted course in <jats:styled-content style=\"fixed-case\">HERNS<\/jats:styled-content>. Neuropathological features include a fibrinoid vascular necrosis or thickened hyalinized vessels associated with white matter ischemia, necrosis and often striking dystrophic calcifications. Ultrastructural studies of the vessel walls often demonstrate unusual multilaminated basement membranes.<\/jats:p>","DOI":"10.1111\/bpa.12178","type":"journal-article","created":{"date-parts":[[2014,10,16]],"date-time":"2014-10-16T12:39:58Z","timestamp":1413463198000},"page":"510-518","source":"Crossref","is-referenced-by-count":51,"title":["Neuropathology and Genetics of Cerebroretinal Vasculopathies"],"prefix":"10.1111","volume":"24","author":[{"given":"Grant R.","family":"Kolar","sequence":"first","affiliation":[{"name":"Department of Pathology Saint Louis University School of Medicine  St. Louis MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parul H.","family":"Kothari","sequence":"additional","affiliation":[{"name":"Department of Genetics Washington University in St. Louis  St. Louis MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Negar","family":"Khanlou","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Laboratory Medicine (Neuropathology) University of California Los Angeles (UCLA)  Los Angeles CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna C.","family":"Jen","sequence":"additional","affiliation":[{"name":"Neurology David Geffen School of Medicine Ronald Reagan UCLA Medical Center University of California Los Angeles (UCLA)  Los Angeles CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert E.","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Division of Neuropathology Washington University in St. Louis  St. Louis MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry V.","family":"Vinters","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Laboratory Medicine (Neuropathology) University of California Los Angeles (UCLA)  Los Angeles CA"},{"name":"Neurology David Geffen School of Medicine Ronald Reagan UCLA Medical Center University of California Los Angeles (UCLA)  Los Angeles CA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,10,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2006.06.005"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-9071.2005.00976.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1845"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2008.11.012"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(88)33131-3"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340217"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks059"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.5.1322"},{"key":"e_1_2_7_10_1","unstructured":"KothariPH(2014)Studies on the mislocalized exonuclease TREX1 that causes a systemic vasculopathy. 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