Neonatal porencephaly and adult stroke related to mutations in collagen IV A1

Annals of Neurology

Volumn 59, Issue 3, 2006, Pages 504-511

  Van Der Knaap, Marjo S ^a   Smit, Leo M E ^a   Barkhof, Frederik ^a   Pijnenburg, Yolande A L ^a   Zweegman, Sonja ^a   Niessen, Hans W M ^a   Imhof, Saskia ^a   Heutink, Peter ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

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

ADULT; ADULTHOOD; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLEEDING; BLEEDING TENDENCY; CADASIL; CAPILLARY BASEMENT MEMBRANE; CARDIOVASCULAR SYSTEM EXAMINATION; CASE REPORT; DISEASE SEVERITY; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERTENSION; INFANT; INFARCTION; ISCHEMIA; LABORATORY TEST; LEUKOENCEPHALOPATHY; MALE; MICROANGIOPATHY; NEUROLOGIC EXAMINATION; NEWBORN; NEWBORN PERIOD; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; PORENCEPHALY; PRIORITY JOURNAL; RECURRENT DISEASE; RISK FACTOR; SKIN BIOPSY; STROKE; THROMBOPHILIA; VASCULAR AMYLOIDOSIS;

ADULT; BRAIN DISEASES; CADASIL; CEREBRAL CORTEX; CEREBRAL INFARCTION; CEREBROVASCULAR ACCIDENT; COLLAGEN TYPE IV; DISEASE PROGRESSION; FAMILY HEALTH; FEMALE; HUMANS; INFANT, NEWBORN; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MUTATION; NEUROLOGIC EXAMINATION; OPHTHALMOLOGY; SKIN;

EID: 33644832568     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20715     Document Type: Article

References (42)

1. Ho SS, Kuzniecky RI, Gilliam F, et al. Congenital porencephaly: MR features and relationship to hippocampal sclerosis. Am J Neuroradiol AJNR 1998;19:135-141.
2. Volpe JJ. Neurologic outcome of prematurity. Arch Neurol 1998;55:297-300.
3. Thorarensen O, Ryan S, Hunter J, Younkin DP. Factor V Leiden mutation: an unrecognized cause of hemiplegic cerebral palsy, neonatal stroke, and placental thrombosis. Ann Neurol 1997;42:372-375.
4. Sherer DM, Anyaegbunam A, Onyeije C. Antepartum fetal intracranial hemorrhage, predisposing factors and prenatal sonography: a review. Am J Perinatol 1998;15:431-441.
5. Debus O, Koch HG, Kurlemann G, et al. Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly. Arch Dis Child Fetal Neonatal Ed 1998;78:F121-F124.
6. Debus O, Kosch A, Sträter R, et al. The factor V G1691A mutation is a risk for porencephaly: a case-control study. Ann Neurol 2004;56:287-290.
7. Sharif U, Kuban K. Prenatal intracranial hemorrhage and neurologic complications in alloimmune thrombocytopenia. J Child Neurol 2001;16:838-842.
8. Dale ST, Coleman LT. Neonatal alloimmune thrombocytopenia: antenatal and postnatal imaging findings in the pediatric brain. Am J Neuroradiol AJNR 2002;23:1457-1465.
9. Dominquez R, Aguirre Villa-Coro A, Slopis JM, Bohan TP. Brian and ocular abnormalities in infants wirh in utero exposure to cocaine and other street drugs. Am J Dis Child 1991;145:688-695.
10. Deasy NP, Jarosz JM, Cox TCS, Hughes E. Congenital varicella syndrome: cranial MRI in a long-term survivor. Neuroradiology 1999;41:205-207.
11. Moinuddin A, McKinstry RC, Martin KA, Neil JJ. Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection-an illustrative report. Prenat Diagn 2003;23:797-800.
12. Eller KM, Kuller JA. Porencephaly secondary to fetal trauma during amniocentesis. Obstet Gynecol 1995;85:865-867.
13. Sillevis WG, Willemse J. A case of familial porencephalia. Folia Psychiatr Neurol Neurochir Neerl 1959;62:145-151, 355-361.
14. Berg RA, Aleck KA, Kaplan AM. Familial porencephaly. Arch Neurol 1983;40:567-569.
15. Smit LME, Barth PG, Valk J, Njiokiktjien C. Familial porencephalic white matter disease in two generations. Brain Dev 1984;6:54-58.
16. Airaksinen EM. Familial porencephaly. Clin Genet 1984;26:236-238.
17. Zonana J, Adornato BT, Glass ST, Webb MJ. Familial porencephaly and congenital hemiplegia. J Pediatr 1986;109:671-674.
18. Sensi A, Cerruti S, Calzolari E, Vesce F. Familial porencephaly. Clin Genet 1990;38:396-400.
19. Herranz Fernandez JL, Moreno Belzue C, Arce Garcia JL, Artega Manjon-Cabeza R. Hemiparesia congénita familiar o porencefalie familiar. An Esp Pediatr 1992;37:431-433.
20. Al-Shahwan S, Singh B. Familial congenital hemiparesis. J Child Neurol 1995;10:413-414.
21. Haar F, Dyken P. Hereditary nonprogressive athetotic hemiplegia: a new syndrome. Neurology 1977;27:849-854.
22. Vilain C, van Regemorter N, Verloes A, et al. Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. Am J Med Genet 2002;112:198-202.
23. Mancini GMS, de Coo IFM, Lequin MH, Arts WFM. Hereditary porencephaly: clinical and MRI findings in two Dutch families. Eur J Pediatr Neurol 2004;8:45-54.
24. Aguglia U, Gambardella A, Breedveld GJ, et al. Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. Neurology 2004;62:1613-1615.
25. Gould DB, Campbell Phalan F, Breedveld GJ, et al. Mutations in Cola1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005;308:1167-1171.
26. Imaizumi T, Horita Y, Hashimoto Y, Niwa J. Dotlike hemosiderin spots on T2*-weighted magnetic resonance imaging as a predictor of stroke recurrence: a prospective study. J Neurosurg 2004;101:915-920.
27. Werring DJ, Frazer DW, Coward LJ, et al. Cognitive dysfunction in patients with cerebral microbleeds on T2* weighted gradient-echo MRI. Brain 2004;127:2265-2275.
28. Fan YH, Mok VCT, Lam WWM, et al. Cerebral microbleeds and white matter changes in patients hospitalized with lacunar infarcts. J Neurol 2004;251:537-541.
29. Lee SH, Kwon SJ, Kim KS, et al. Cerebral microbleeds in patients wich hypertensive stroke. Topographical distribution in the supratentorial area. J Neurol 2004;251:1183-1189.
30. Lesnik Oberstein SAJ, van den Boom R, van Buchem MA, et al. Cerebral microbleeds in CADASIL. Neurology 2001;57:1066-1070.
31. Dichgans M, Holtmannspötter M, Herzog J, et al. Cerebral microbleeds in CADASIL. A gradient-echo magnetic resonance imaging and autopsy study. Stroke 2002;33:67-71.
32. Van den Boom R, Lesnik Oberstein SAJ, Ferrari MD, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages-3rd-6th decades. Radiology 2003;229:683-690.
33. Maclean AV, Woods R, Alderson LM, et al. Spontaneous lobar hemorrhage in CADASIL. J Neurol Neurosurg Psychiatry 2005;76:456-457.
34. Silbert PL, Bartleson JD, Miller GM, et al. Cortical petechial hemorrhage, leukoencephalopathy, and subacute dementia associated with seizures due to cerebral amyloid angiopathy. Mayo Clin Proc 1995;70:477-480.
35. Remes AM, Finnilä S, Mononen H, et al. Hereditary dementia with cerebral hemorrhages and cerebral amyloid angiopathy. Neurology 2004;63:234-240.
36. Van den Boom R, Bornebroek M, Behloul F, et al. Microbleeds in hereditary cerebral hemorrhage with amyloidosis-Dutch type. Neurology 2005;64:1288-1289.
37. Fazekas F, Kleinert R, Roob G, et al. Histopathologic analysis of foci of signal loss on gradient-echo T2*-weighted MR images in patients with spontaneous intracerebral hemorrhage: evidence of microangiopathy-related microbleeds. Am J Neuroradiol AJNR 1999;20:637-642.
38. Naka H, Nomura E, Wakabayashi S, et al. Frequency of asymptomatic microbleeds on T2*-weighted MR images of patients with recurrent stroke: association with combination of stroke subtypes and leukoaraiosis. Am J Neuroradiol AJNR 2004;25:714-719.
39. Kato H, Izumiyama M, Izumiyama K, et al. Silent cerebtal microbleeds on T2*-weighted MRI. Correlation with stroke subtype, stroke recurrence, and leukoaraiosis. Stroke 2002;33:1536-1540.
40. Imaizumi T, Horita Y, Chiba M, et al. Dot-like hemosiderin spots on gradient echo T2*-weighted magnetic resonance imaging are associated with past history of small vessel disease in patients with intracerebral hemorrhage. J Neuroimaging 2004;14:251-257.
41. Hanyu H, Takana Y, Shimizu S, et al. Cerebral microbleeds in Binswanger's disease: a gradient-echo T2*-weighted magnetic resonance imaging study. Neurosci Lett 2003;340:213-216.
42. Vahedi K, Massin P, Guichard J-P, et al. Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. Neurology 2003;60:57-63.