References

1. Chabriat, H.; Vahedi, K.; Iba-Zizen, M.T.; Joutel, A.;

Nibbio, A.; Nagy, T.G.; Krebs, M.O.; Julien, J.; Dubois,

B.; Ducroca, X.; Levasseur, M.; Homeyer, P.; Mas, J.L.; Lyon-Caen, O.; Tournier-Lasserve, E.; Bousser, M.G. Clinical spectrum of CADASIL: A study of 7 families. Lancet 1995, 346, 934-939.

2. Dichgans, M.; Mayer, M.M.; Uttner, I.; Bruning, R.; Muller-Hocker, J.; Rungger, G.; Ebke, M.; Klockgether, T.; Gasser, T. The phenotypic spectrum of CADASIL: Clinical findings in 102 cases. Ann. Neurol. 1998, 44, 731-739.

3. Kalimo, H.; Ruchoux, M.M.; Viitanen, M.; Kalaria, R.N. CADASIL: A common form of hereditary arteriopathy causing brain infarcts and dementia. Brain Pathol. 2002, 12, 371-384.

4. O'Sullivan, M.; Jarosz, J.M.; Martin, R.J.; Deasy, N.; Powell, J.F.; Markus, H.S. MRI hyperintensities of temporal lobe and external capsule in patients with CADASIL. Neurology 2001, 56, 628-634.

5. 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 leukoencepha-lopathy. Acta Neuropathol. 1995, 89, 500-512.

6. Ruchoux, M.M.; Maurage, C.A. CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J. Neurol. Exp. Neurol. 1997, 56, 947-964.

7. Joutel, A.; Andreux, F.; Gaulis, S.; Domanga, V.; Cecillion, M.; Battail, N.; Piga, N.; Chapon, F.; Godfraind,

C.; Tournier-Lasserve, E. The ectodomain of Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J. Clin. Invest. 2000, 105, 597 -605.

8. Lesnick Oberstien, A.; Van Duinen, S.G.; Van Den Boom, R.; Maat-Schieman, M.L.; Van Buchem, M.A.; Van Houwelingen, H.C.; Hegemann-Kleinn, I.M.; Ferrari, M.D.; Breuning, M.H.; Haan, J. Evaluation of diagnostic Notch3 immunostaining in CADASIL. Acta Neuropathol. 2003, 106, 107-111.

9. Brulin, P.; Godfraind, C.; Leteurtre, E.; Ruchoux, M.M. Morphometric analysis of ultrastructural vascular changes in CADASIL: Analysis of 50 skin biopsy specimens and pathogenic implications. Acta Neuropathol. 2002, 104, 241-248.

10. Tournier-Lasserve, E.; Joutel, A.; Melki, J.; Weissenbach, J.; Lathrop, J.M.; Chabriat, H.; Mas, J.L.; Cabanis, E.A.; Baudrimont, M.; Maciazek, J.; Bach, M.A.; Bousser, M.G. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat. Genet. 1993, 3, 256-259.

11. 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, E.A.; Ruchoux, M.M.; Weissenbach, J.; Bach, J.F.; Bousser, M.G.; Tournier-Lasserve, E. Notch3 mutation in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996, 383, 707-710.

12. Artanavis-Tsakonas, S.; Rand, M.D.; Lake, R.J. Notch signalling cell fate control and signal integration in development. Science 1999, 284, 770-776.

13. Karlsrom, H.; Beatus, P.; Daneus, K.; Chapman, G.; 19. Lendahl, U.; Lundkvist, J.K. A CADASIL-mutated Notch3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling. Proc.

14. Joutel, A.; Chabriat, H.; Vahedi, K.; Domenga, V.; Vayssiere, C.; Ruchoux, M.M.; Lucas, C.; Leys, D.; 20. Bousser, M.G.; Tournier-Lasserve, E. Splice site mutation causing a 7 amino acid Notch 3 in-frame deletion in CADASIL. Neurology 2000, 54, 1874-1875.

15. Joutel, A.; Vahedi, K.; Corpechot, C.; Troesh, A.; Chabriat, H.; Vayssiere, C.; Cruaud, C.; Maciazek, J.; 21. Weissenbach, J.; Bousser, M.G.; Bach, J.F.; Tournier-Lasserve, E. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 1997,

16. Tuominen, S.; Juvonen, V.; Amberla, K.; Jolma, T.; Rinne, J.O.; Tuisku, S.; Kurtki, T.; Marttila, R.; Poyhonen, M.; Savontaus, M.L.; Viitanen, M.; Kalimo, H. Phenotype of a homozygous CADASIL patient with the same R133C 23. Notch3 mutation. Stroke 2001, 32, 1767-1774.

17. Joutel, A.; Dodick, D.D.; Parisi, J.E.; Cecillon, M.; Tournier-Lasserve, E.; Bousser, M.G. De novo mutation 24. in the Notch3 gene causing CADASIL. Ann. Neurol. 2000,

18. Fryxell, K.J.; Soderlund, M.; Jordan, T.V. An animal model for the molecular genetics of CADASIL. Stroke 2001, 32, 6-11.

Ruchoux, M.M.; Domenga, V.; Brulin, P.; Maciazek, J.; Limol, S.; Tournier-Lasserve, E.; Joutel, A. Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephal-opathy. Am. J. Pathol. 2003, 162, 329 - 342. Chabriat, H.; Pappata, S.; Ostergaard, L.; Clark, C.A.; Pachot-Clouard, M.; Vahedi, K.; Jobert, A.; LeBihan, D.; Bousser, M.G. Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking. Stroke 2000, 31, 1904-1912. Molko, N.; Pappata, S.; Mangin, J.F.; Poupon, C.; Vahedi, K.; Pachot-Clouard, M.; Jobert, A.; Le Bihan, D.; Bousser, M.G.; Chabriat, H. Diffusion tensor imaging study in subcortical gray matter. Stroke 2001, 32, 2049 -2054. Auer, D.P.; Schirmer, T.; Heidenreich, J.O.; Herzog, J.; Putz, B.; Dichgans, M. Altered white and gray matter metabolism in CADASIL: A proton MR spectroscopy and 1H-MRSI study. Neurology 2001, 56, 635-642. Ruchoux, M.M.; Brulin, P.; Brillault, J.; Dehouck, M.P.; Cecchelli, R.; Bataillard, M. Lessons from CADASIL. Ann. N.Y. Acad. Sci. 2002, 977, 224-231. Yonekura, H.; Sakurai, S.; Liu, X.; Migita, H.K.; Wang, H.; Yamagishi, S.I.; Nomura, M.; Abedin, J.; Unoki, H.; Yamamoto, Y.; Yamamoto, H. Placenta growth factor and vascular endothelial growth factor B and C. Expression in microvascular endothelial cells and pericytes. J. Biol. Chem. 1999, 274, 35172 - 35178.

Unraveling Alzheimers Disease

Unraveling Alzheimers Disease

I leave absolutely nothing out! Everything that I learned about Alzheimer’s I share with you. This is the most comprehensive report on Alzheimer’s you will ever read. No stone is left unturned in this comprehensive report.

Get My Free Ebook


Post a comment