Journal of Neurology

, Volume 261, Issue 3, pp 500–503

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
Original Communication

DOI: 10.1007/s00415-013-7224-4

Cite this article as:
Gunda, B., Mine, M., Kovács, T. et al. J Neurol (2014) 261: 500. doi:10.1007/s00415-013-7224-4

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.

Keywords

COL4A2 Intracerebral hemorrhage Leukoencephalopathy MRI Neurogenetics 

Supplementary material

415_2013_7224_MOESM1_ESM.pdf (506 kb)
Supplementary material 1 (PDF 505 kb)

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Bence Gunda
    • 1
  • Manuele Mine
    • 2
  • Tibor Kovács
    • 1
  • Csilla Hornyák
    • 1
  • Dániel Bereczki
    • 1
  • György Várallyay
    • 3
  • Gábor Rudas
    • 3
  • Marie-Pierre Audrezet
    • 4
  • Elisabeth Tournier-Lasserve
    • 2
  1. 1.Department of NeurologySemmelweis UniversityBudapestHungary
  2. 2.Service de Génétique Neuro-vasculaire, Hôpital Lariboisière, UMR-S 740Université Paris Diderot, Sorbonne Paris CitéParisFrance
  3. 3.MRI Research CenterSemmelweis UniversityBudapestHungary
  4. 4.Institut National de la Santé et de la Recherche MédicaleBrestFrance

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