COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy
| Autor: | Marie Pierre Audrézet, Manuele Mine, Csilla Hornyák, Dániel Bereczki, György Várallyay, Tibor Kovács, Elisabeth Tournier-Lasserve, Gábor Rudas, Bence Gunda |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Collagen Type IV Male Pathology medicine.medical_specialty Neurology Glycine Neurogenetics Nephropathy Leukoencephalopathy Muscular Diseases Leukoencephalopathies Recurrence Humans Medicine Genetic Testing Myopathy Cerebral Hemorrhage Neuroradiology Intracerebral hemorrhage business.industry Intracranial Aneurysm medicine.disease Magnetic Resonance Imaging Porencephaly Mutation Kidney Diseases Neurology (clinical) medicine.symptom business |
| Zdroj: | Journal of Neurology. 261:500-503 |
| ISSN: | 1432-1459 0340-5354 |
| DOI: | 10.1007/s00415-013-7224-4 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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