Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy

Journal of Neurology

Volumn 255, Issue 1, 2008, Pages 77-88

  Winkler, D T ^a,b   Lyrer, P ^a   Probst, A ^b   Devys, D ^c   Haufschild, T ^d   Haller, S ^a   Willi, N ^e   Mihatsch, M J ^b   Steck, A J ^a   Tolnay, M ^b  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^d UNIVERSITY EYE CLINIC   (Switzerland)

^e Cantonal Institute of Pathology   (Switzerland)

Author keywords

Angiopathy; CADASIL; Cerebral calcification; CRV; HERNS; HVR; Small vessel disease; Vasculopathy

Indexed keywords

AZATHIOPRINE; CYCLOPHOSPHAMIDE; METHOTREXATE;

ADULT; ARTICLE; BRAIN ANGIOGRAPHY; BRAIN BIOPSY; BRAIN CALCIFICATION; CEREBROVASCULAR DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENETIC DISORDER; HISTOPATHOLOGY; HUMAN; KIDNEY DISEASE; MALE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RETINOPATHY; TREATMENT FAILURE;

EID: 38549110683     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0675-3     Document Type: Article

References (29)

1. Aicardi J, Goutieres F (1984) A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15(1):49-54
2. Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kalmanchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG (2000) Aicardi-Goutieres syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am J Hum Genet 67(1):213-221
3. Gobbi G, Bouquet F, Greco L, Lambertini A, Tassinari CA, Ventura A, Zaniboni MG (1992) Coeliac disease, epilepsy, and cerebral calcifications. The Italian Working Group on Coeliac Disease and Epilepsy. Lancet 340(8817):439-443
4. Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348(6302):651-653
5. Grand MG, Kaine J, Fulling K, Atkinson J, Dowton SB, Farber M, Craver J, Rice K (1988) Cerebroretinal vasculopathy. A new hereditary syndrome. Ophthalmology 95(5):649-659
6. Gutmann DH, Fischbeck KH, Sergott RC (1989) Hereditary retinal vasculopathy with cerebral white matter lesions. Am J Med Genet 34(2):217-220
7. Jen J, Cohen AH, Yue Q, Stout JT, Vinters HV, Nelson S, Baloh RW (1997) Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Neurology 49(5):1322-1330
8. Joutel A, Bousser MG, Biousse V, Labauge P, Chabriat H, Nibbio A, Maciazek J, Meyer B, Bach MA, Weissenbach J, et al. (1993) A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet 5(1):40-45
9. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cecillion M, Marechal E, Maciazek J, Vayssiere C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E (1996) Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383(6602):707-710
10. Labrune P, Lacroix C, Goutieres F, de Laveaucoupet J, Chevalier P, Zerah M, Husson B, Landrieu P (1996) Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. Neurology 46(5):1297-1301
11. Magistris MR, Kohler A, Pizzolato G, Morris MA, Baroffio A, Bernheim L, Bader CR (1998) Needle muscle biopsy in the investigation of neuromuscular disorders. Muscle Nerve 21(2):194-200
12. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, et al. (1994) Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 8(4):345-351
13. Moake JL (2002) Thrombotic micro angiopathies. N Engl J Med 347(8):589-600
14. Nagae-Poetscher LM, Bibat G, Philippart M, Rosemberg S, Fatemi A, Lacerda MT, Costa MO, Kok F, Costa Leite C, Horska A, Barker PB, Naidu S (2004) Leukoencephalopathy, cerebral calcifications, and cysts: new observations. Neurology 62(7):1206-1209
15. Niedermayer I, Graf N, Schmidbauer J, Reiche W (2000) Cerebroretinal vasculopathy mimicking a brain tumor. Neurology 54(9):1878-1879
16. Niedermayer I, Reiche W, Graf N, Mestres P, Feiden W (2000) Cerebroretinal vasculopathy and leukoencephalopathy mimicking a brain tumor. Report of two early-onset cases with Fanconi's anemia-like phenotypes suggesting an autosomal-recessive inheritance pattern. Clin Neuropathol 19(6):285-295
17. Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA, Terwindt GM, Haan J, van den Maagdenberg AM, Jen J, Baloh RW, Barilla- LaBarca ML, Saccone NL, Atkinson JP, Ferrari MD, Freimer NB, Frants RR (2001) Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21. 1-p21. 3. Am J Hum Genet 69(2):447-453
18. Rambaud JC, Galian A, Touchard G, Morel-Maroger L, Mikol J, Van Effenterre G, Leclerc JP, Le Charpentier Y, Haut J, Matuchansky C, et al. (1986) Digestive tract and renal small vessel hyalinosis, idiopathic nonarteriosclerotic intracerebral calcifications, retinal ischemic syndrome, and phenotypic abnormalities. A new familial syndrome. Gastroenterology 90(4):930-938
19. Razvi SS, Bone I (2006) Single gene disorders causing ischaemic stroke. J Neurol 253(6):685-700
20. Schmidbauer JM, Voges M, Kasmann- Kellner B, Graf N, Henn W, Ruprecht KW (2000) Hereditary occlusive cerebroretinal vasculopathy in two sisters. Klin Monatsbl Augenheilkd 217(4):246-251
21. Seifried C, Sitzer M, Jen J, Auburger G (2005) HERNS. A rare, hereditary, multisystemic disease with cerebral microangiopathy. Nervenarzt 76(10):1191-1192, 1194-1195
22. Siveke JT, Schmid H (2003) Evidence for systemic manifestations in cerebroretinal vasculopathy. Am J Med Genet 123A(3):309
23. Storimans CW, Van Schooneveld MJ, Oosterhuis JA, Bos PJ (1991) A new autosomal dominant vascular retinopathy syndrome. Eur J Ophthalmol 1(2):73-78
24. Susac JO, Hardman JM, Selhorst JB (1979) Microangiopathy of the brain and retina. Neurology 29(3):313-316
25. Terwindt GM, Haan J, Ophoff RA, Groenen SM, Storimans CW, Lanser JB, Roos RA, Bleeker-Wagemakers EM, Frants RR, Ferrari MD (1998) Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon. Brain 121(Pt 2):303-316
26. Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, et al. (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378(6555):403-406
27. Vahedi K, Massin P, Guichard JP, Miocque S, Polivka M, Goutieres F, Dress D, Chapon F, Ruchoux MM, Riant F, Joutel A, Gaudric A, Bousser MG, Tournier-Lasserve E (2003) Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. Neurology 60(1):57-63
28. Weil S, Reifenberger G, Dudel C, Yousry TA, Schriever S, Noachtar S (1999) Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome. Neurology 53(3):629-631
29. Yanagawa S, Ito N, Arima K, Ikeda S (2002) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology 58(5):817-820