COL4A1 Mutation as a Cause of Familial Recurrent Intracerebral Hemorrhage |
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| Institution: | 2. Neuroscience Department, Biodonostia Health Research Institute, San Sebastián, Gipuzkoa, Spain;2. The Warren Alpert Medical School of Brown University, Department of Neurosurgery, Providence, Rhode Island;3. The Warren Alpert Medical School of Brown University, Department of Radiology, Providence, Rhode Island;5. Departments of Neurology and Feil Family Brain and Mind Research Institute, Weill Cornell Medical College, New York, New York;4. The Warren Alpert Medical School of Brown University, Department of Internal Medicine, Division of Cardiovascular Medicine, Providence, Rhode Island;2. Department of Public Health, Emory University, Atlanta, Georgia;3. Department of Neurology, University of Utah, Salt Lake City, Utah;4. Department of Neurology, University of Chicago, Chicago, Illinois;6. Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida;5. Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama;11. Department of Neurology, University of California at Los Angeles, Los Angeles, California;2. Division of Preventive Medicine, National Hospital Organization Kyoto Medical Center, Kyoto, Japan;2. Division of Ultra-High Field MRI, Institute for Biomedical Sciences, Iwate Medical University, Morioka, Japan;2. Department of Neurology, Harbor-UCLA Medical Center, Torrance, California;3. Department of Radiology, VA Long Beach Healthcare System, Long Beach, California;1. Department of Vascular Medicine, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands;2. Department of Neurology, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands;3. Department of Radiology, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands;4. Department of Geriatrics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands |
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| Abstract: | The COL4A1 mutation is a very rare monogenic cause of small vessel disease related to recurrent intracerebral hemorrhage. We report a family in which the index case presented with two intracerebral hemorrhages in the basal ganglia with severe periventricular leukoaraiosis and a cataract and vascular tortuosity in the ophthalmological study. His twin brother also had severe leukoaraiosis and multiple subcortical microhemorrhages as well as a congenital cataract and vascular tortuosity in the retina. The older sister had a porencephalic cyst and involvement of the periventricular white matter and intracerebral hemorrhage. In single-gene testing, all three were found to have the same COL4A1 mutation.Intracerebral subcortical hemorrhages or microhemorrhages and severe subcortical leukoaraiosis in familial cases may be related to COL4 mutations. |
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