COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

Bence Gunda, Manuele Mine, Tibor Kovács, Csilla Hornyák, Dániel Bereczki, György Várallyay, Gábor Rudas, Marie Pierre Audrezet, Elisabeth Tournier-Lasserve

Research output: Article

21 Citations (Scopus)

Abstract

Type IV collagen α1 and α2 chains form heterotrimers that constitute an essential component of basement membranes. Mutations in COL4A1, encoding the α1 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.

Original languageEnglish
Pages (from-to)500-503
Number of pages4
JournalJournal of Neurology
Volume261
Issue number3
DOIs
Publication statusPublished - márc. 2014

    Fingerprint

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Gunda, B., Mine, M., Kovács, T., Hornyák, C., Bereczki, D., Várallyay, G., Rudas, G., Audrezet, M. P., & Tournier-Lasserve, E. (2014). COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy. Journal of Neurology, 261(3), 500-503. https://doi.org/10.1007/s00415-013-7224-4