Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

Neurology

Volumn 76, Issue 9, 2011, Pages 844-846

  Meuwissen, M E C ^a   De Vries, L S ^c   Verbeek, H A ^a   Lequin, M H ^b   Govaert, P P ^a,b   Schot, R ^a   Cowan, F M ^d   Hennekam, R ^e   Rizzu, P ^f   Verheijen, F W ^a   Wessels, M W ^a   Mancini, G M S ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b Department of Radiology ^*  (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d IMPERIAL COLLEGE HEALTHCARE NHS TRUST   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA1 CHAIN; GLYCINE; UNCLASSIFIED DRUG; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; CASE REPORT; CAUCASIAN; FETUS ECHOGRAPHY; GENE MUTATION; HUMAN; HYDRANENCEPHALY; INFANT; INFANT MORTALITY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PORENCEPHALY; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

CEREBELLAR DISEASES; CEREBELLUM; CEREBRAL HEMORRHAGE; CHILD, PRESCHOOL; COLLAGEN TYPE IV; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FEMALE; HUMANS; HYDRANENCEPHALY; INFANT; INFANT, NEWBORN; MALE; MUTATION; ULTRASONOGRAPHY, PRENATAL;

EID: 79952412915     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31820e7751     Document Type: Article

References (7)

1. Gould DB, Phalan FC, Breedveld GJ, et al. Mutations in COL4A1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005;308:1167-1171. (Pubitemid 40696433)
2. Gould DB, Phalan FC, van Mil SE, et al. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 2006;354:1489-1496.
3. Breedveld G, de Coo IF, Lequin MH, et al. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet 2006;43:490-495. (Pubitemid 43927322)
4. Coupry I, Sibon I, Mortemousque B, Rouanet F, Mine M, Goizet C. Ophthalmological features associated with COL4A1 mutations. Arch Ophthalmol 2010;128:483-489.
5. Plaisier E, Gribouval O, Alamowitch S, et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 2007;357:2687-2695.
6. van der Knaap MS, Smit LM, Barkhof F, et al. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol 2006;59:504-511. (Pubitemid 43358071)
7. de Vries LS, Koopman C, Groenendaal F, et al. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. Ann Neurol 2009;65:12-18.