Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)

Neurology

Volumn 49, Issue 5, 1997, Pages 1322-1330

  Jen, J ^a   Cohen, A H ^a,b   Yue, Q ^a   Stout, J T ^c   Vinters, H V ^a   Nelson, S ^a   Baloh, R W ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; APRAXIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN INFARCTION; CHROMOSOME 19; CLINICAL ARTICLE; DYSARTHRIA; FEMALE; GENETIC DISORDER; HEADACHE; HEMATURIA; HEMIPARESIS; HUMAN; HUMAN TISSUE; KIDNEY DISEASE; MALE; MENTAL DISEASE; PRIORITY JOURNAL; PROTEINURIA; RETINA MACULA EDEMA; RETINOPATHY; STROKE; TELANGIECTASIA; VISUAL IMPAIRMENT;

EID: 0030712287     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.5.1322     Document Type: Article

References (25)

1. Sourander P, Wålinder J. Hereditary multi-infarct dementia. Acta Neuropathol (Berl) 1977;39:247-254.
2. Tournier-Lasserve E, Iba-Zizen M-T, Romero N, Bousser M-G. Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy. Stroke 1991;22:1297-1302.
3. Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996;383:707-710.
4. Grand MG, Kaine J, Fulling K, et al. Cerebroretinal vasculopathy. Ophthalmology 1988;95:649-659.
5. Gutmann DH, Fischbeck KH, Sergott RC. Hereditary retinal vasculopathy with cerebral white matter lesions. Am J Med Genet 1989;34:217-220.
6. Chien K, van de Velde RL, Heusser RC. A one-step method for re-embedding paraffin embedded specimens for electron microscopy. In: Bailey GW, ed. Proceedings of the fortieth annual meeting of the Electron Microscopy Society of America, Baton Rouge: Claitor's Pub Div, 1982:356-357.
7. Cohen AH, Border WA, Rajfer J, Dumke A, Glassock RJ. Interstitial Tamm-Horsfall protein in rejecting renal allografts: identification and morphologic pattern of injury. Lab Invest 1984;50:519-525.
8. Bell GI, Karam JH, Rutter WJ. Polymorphic DNA region adjacent to the 5′ end of the human insulin gene. Proc Natl Acad Sci USA 1981;78:5759-5763.
9. Litt M, Hauge XY, Sharma V. Shadow bands seen when typing polymorphic dinucleotide repeats: some causes and cures. Biotechniques 1993;15:280-284.
10. Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Généthon human genetic linkage map. Nat Genet 1994;7:246-339.
11. Schaffer AA, Gupta SK, Shriram K, Cottingham RW. Avoiding recomputation in linkage analysis. Hum Hered 1994;44: 225-237.
12. Ducros A, Nagy T, Alamowitch S, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval. Am J Hum Genet 1996;58:171-181.
13. Ohama E, Ohara S, Ikuta F, et al. Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. Acta Neuropathol (Berl) 1987;74:226-233.
14. Baudrimont M, Dubas F, Joutel A, Tournier-Lasserve E, Bousser M-G. Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. Stroke 1993;24:122-125.
15. Ruchoux M-M, Guerouaou D, Vandenhaute B, Pruvo J-P, Vermersch P, Leys D. Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol (Berl) 1995;89:500-512.
16. St. Clair D, Bolt J, Morris S, Doyle D. Hereditary multi-infarct dementia unlinked to chromosome 19q12 in a large Scottish pedigree: evidence of probable locus heterogeneity. J Med Genet 1995;32:57-60.
17. Salloway S, Cummings J. Subcortical disease and neuropsychiatric illness. J Neuropsychiatry Clin Neurosci 1994;6:93-99.
18. Baker DG, Krochak RJ. The response of the microvascular system to radiation: a review. Cancer Invest 1989;7:287-294.
19. Eldor A, Fuks Z, Matzner Y, Witte LD, Vlodavsky I. Perturbation of endothelial functions by ionizing irradiation: effects on prostaglandins, chemoattractants and mitogens. Semin Thromb Hemost 1989;15:215-225.
20. Cotran RS, Kumar V, Robbins SL, eds. Robbins pathologic basis of disease. 5th ed. Philadelphia: Saunders, 1994.
21. Stewart PA, Hayakawa K, Akers M-A, Vinters HV. A morphometric study of the blood-brain barrier in Alzheimer's disease. Lab Invest 1992;67:734-742.
22. Galloway WH, Mowat AP. Congenital microcephaly with hiatus hernia and nephrotic syndrome in two siblings. J Med Genet 1968;5:319-321.
23. Cohen AH, Turner MC. Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology. Kidney Int 1994;45:1407-1415.
24. Rottenberg DA, Chernik NL, Deck MDF, Ellis F, Posner JB. Cerebral necrosis following radiotherapy of extracranial neoplasms. Ann Neurol 1977;1:339-357.
25. Glantz MJ, Burger PC, Friedman AH, Radtke RA, Massey EW, Schold SC. Treatment of radiation-induced nervous system injury with heparin and warfarin. Neurology 1994;44: 2020-2027.