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dc.contributor.author Gunda, Bence
dc.contributor.author Mine M
dc.contributor.author Kovács, Tibor
dc.contributor.author Hornyák, Csilla
dc.contributor.author Bereczki, Dániel
dc.contributor.author Varallyay G
dc.contributor.author Rudas, Gábor
dc.contributor.author Audrezet MP
dc.contributor.author Tournier-Lasserve E
dc.date.accessioned 2015-02-23T10:23:15Z
dc.date.available 2015-02-23T10:23:15Z
dc.date.issued 2014
dc.identifier 84896489262
dc.identifier.citation pagination=500-503; journalVolume=261; journalIssueNumber=3; journalTitle=JOURNAL OF NEUROLOGY;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/1221
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
dc.date.updated 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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