Case of small vessel disease associated with COL4A1 mutations following trauma

Case Reports in Neurology

Volumn 7, Issue , 2015, Pages 142-147

  Plancher, Joao McOneil ^a   Hufnagel, Robert B ^b   Vagal, Achala ^a   Peariso, Katrina ^c   Saal, Howard M ^b   Broderick, Joseph P ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b Pediatric Critical Care Cincinnati Children's Hospital Medical Center   (United States)

^c UNIVERSITY OF CINCINNATI   (United States)

Author keywords

Cerebral small vessel disease; COL4A1; Heterozygous putatively pathogenic mutation

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 A1; METHYLPREDNISOLONE; UNCLASSIFIED DRUG;

ADULT; ANTERIOR EYE SEGMENT; ARTICLE; BRAIN HEMORRHAGE; BRAIN INFARCTION; BRAIN RADIOGRAPHY; CASE REPORT; CEREBRAL PALSY; CEREBROSPINAL FLUID ANALYSIS; CEREBROVASCULAR DISEASE; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL CATARACT; CONGENITAL GLAUCOMA; CONTRAST ENHANCEMENT; DEMYELINATING DISEASE; DISEASE ASSOCIATION; DRUG MEGADOSE; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HEAD INJURY; HUMAN; HYPERTENSION; INJURY SEVERITY; LEUKOARAIOSIS; LEUKOENCEPHALOPATHY; LEUKOMALACIA; MIDDLE AGED; MISSENSE MUTATION; NEUROGENIC BLADDER; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PETECHIA; PRIORITY JOURNAL; RISK FACTOR; WHITE MATTER LESION;

EID: 84942258913     PISSN: 1662680X     EISSN: None     Source Type: Journal    
DOI: 10.1159/000431309     Document Type: Article

References (6)

1. Lanfranconi S, Markus HS: COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke 2010;41:e513-e518.
2. Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, et al: Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 2006;354:1489-1496.
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4. Reis LM, Semina EV: Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol 2011;22:314-324.
5. Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, et al: Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005;308:1167-1171.
6. Rannikmae K, Davies G, Thomson PA, Bevan S, Devan WJ, Falcone GJ, et al: Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. Neurology 2015;84:918-926.