Show simple item record Gunda, Bence Mine M Kovács, Tibor Hornyák, Csilla Bereczki, Dániel Varallyay G Rudas, Gábor Audrezet MP Tournier-Lasserve E 2015-02-23T10:23:15Z 2015-02-23T10:23:15Z 2014
dc.identifier 84896489262
dc.identifier.citation pagination=500-503; journalVolume=261; journalIssueNumber=3; journalTitle=JOURNAL OF NEUROLOGY;
dc.identifier.uri doi:10.1007/s00415-013-7224-4
dc.description.abstract Type IV collagen alpha1 and alpha2 chains form heterotrimers that constitute an essential component of basement membranes. Mutations in COL4A1, encoding the alpha1 chain, cause a multisystem disease with prominent cerebrovascular manifestations, including porencephaly, bleeding-prone cerebral small vessel disease, and intracranial aneurysms. Mutations in COL4A2 have only been reported in a few porencephaly families so far. Herein, we report on a young adult patient with recurrent intracerebral hemorrhage, leukoencephalopathy, intracranial aneurysms, nephropathy, and myopathy associated with a novel COL4A2 mutation. We extensively investigated a 29-year-old male patient with recurrent deep intracerebral hemorrhages causing mild motor and sensory hemisyndromes. Brain MRI showed deep intracerebral hemorrhages of different age, diffuse leukoencephalopathy, multiple cerebral microbleeds and small aneurysms of the carotid siphon bilaterally. Laboratory work-up revealed significant microscopic hematuria and elevation of creatine-kinase. Genetic testing found a de novo glycine mutation within the COL4A2 triple helical domain. The presented case completes the spectrum of cerebral and systemic manifestations of COL4A2 mutations that appears to be very similar to that in COL4A1 mutations. Therefore, we emphasize the importance of screening both COL4A1 and COL4A2 in patients showing recurrent intracerebral hemorrhage of unknown etiology, particularly if associated with leukoencephalopathy.
dc.relation.ispartof urn:issn:0340-5354
dc.title COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.
dc.type Journal Article 2015-01-23T11:53:55Z
dc.language.rfc3066 en
dc.identifier.mtmt 2491021
dc.identifier.wos 000332791600006
dc.identifier.pubmed 24390199
dc.contributor.department SE/AOK/K/Neurológiai Klinika
dc.contributor.department SE/KSZE/MR Kutatóközpont
dc.contributor.institution Semmelweis Egyetem

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