The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome

Journal of the Neurological Sciences

Volumn 246, Issue 1-2, 2006, Pages 123-130

  Uyguner, Z O ^a,c   Siva, A ^b   Kayserili, H ^c   Saip, S ^b   Altyntath A ^b   Apak, M Y ^c   Albayram, S ^b   Ithyk N ^d   Akman Demir, G ^c   Taoyurekli M ^b   Oz B ^b   Wollnik, B ^a,c,e  

^a ISTANBUL UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

^d Social Security Hospital   (Turkey)

^e UNIVERSITY OF COLOGNE   (Germany)

Author keywords

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy); Migraine; Mutation; Notch3

Indexed keywords

CYSTEINE; NOTCH3 RECEPTOR;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CADASIL; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FAMILY; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; STROKE; TURKEY (REPUBLIC);

ADULT; AGE OF ONSET; AGED; BRAIN; CADASIL; CYSTEINE; DNA; EXONS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, NOTCH; TURKEY;

EID: 33744507399     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2006.02.021     Document Type: Article

References (36)

1. Sourander P., and Walinder J. Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease. Acta Neuropathol (Berl) 39 3 (1977) 247-254
2. Stevens D.L., Hewlett R.H., and Brownell B. Chronic familial vascular encephalopathy. Lancet 1 8026 (1977) 364-365
3. Tournier-Lasserve E., Joutel A., Melki J., Weissenbach J., Lathrop G.M., Chabriat H., et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 3 3 (1993) 256-259
4. Sabbadini G., Francia A., Calandriello L., Di Biasi C., Trasimeni G., Gualdi G.F., et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Clinical, neuroimaging, pathological and genetic study of a large Italian family. Brain 118 Pt1 (1995) 207-215
5. Mayer M., Straube A., Bruening R., Uttner I., Pongratz D., Gasser T., et al. Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL. J Neurol 246 7 (1999) 526-532
6. Joutel A., Corpechot C., Ducros A., Vahedi K., Chabriat H., Mouton P., et al. Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a Mendelian condition causing stroke and vascular dementia. Ann N Y Acad Sci 826 (1997) 213-217
7. Artavanis-Tsakonas S., Rand M.D., and Lake R.J. Notch signaling: cell fate control and signal integration in development. Science 284 5415 (1999) 770-776
8. Joutel A., Vahedi K., Corpechot C., Troesch A., Chabriat H., Vayssiere C., et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 350 9090 (1997) 1511-1515
9. Kalimo H., Ruchoux M.M., Viitanen M., and Kalaria R.N. CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. Brain Pathol 12 3 (2002) 371-384
10. Peters N., Opherk C., Bergmann T., Castro M., Herzog J., and Dichgans M. Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. Arch Neurol 62 7 (2005) 1091-1094
11. Joutel A., Chabriat H., Vahedi K., Domenga V., Vayssiere C., Ruchoux M.M., et al. Splice site mutations causing a seven amino acids Notch3 in frame deletion in CADASIL. Neurology 54 9 (2000) 1874-1875
12. Dichgans M., Ludwig H., Müller-Höcker J., Messerschmidt A., and Gasser T. Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains. Eur J Hum Genet 8 4 (2000) 280-285
13. Dichgans M., Herzog J., and Gasser T. Notch3 in-frame deletion involving three cysteine residues in a family with typical CADASIL. Neurology 57 9 (2001) 1714-1717
14. Tuominen S., Juvonen V., Amberla K., Jolma T., Rinne J.O., Tuisku S., et al. Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation. Stroke 32 8 (2001) 1767-1774
15. Dichgans M. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: phenotypic and mutational spectrum. J Neurol Sci 203-204 (2002) 77-80
16. Joutel A., Dodick D.D., Parisi J.E., Ceclillon M., Tournier-Lasserve E., and Bousser M.G. De novo mutations in the Notch3 gene causing CADASIL. Ann Neurol 47 3 (2000) 388-391
17. Joutel A., Andreux F., Gaulis S., Domenga V., Cecillon M., Battail N., et al. The ectodomain of Notch3 receptor accumulates within the cerebrovascular of CADASIL patients. J Clin Invest 105 5 (2000) 561-562
18. Donahue C.P., and Kosik K.S. Distribution pattern of Notch3 mutations suggests a gain-of-function mechanism for CADASIL. Genomics 83 1 (2004) 59-65
19. Heintz N., and Zoghbi H. α-Synuclein-a link between Parkinson and Alzheimer diseases?. Nat Genet 16 4 (1997) 325-327
20. Utku U., Celik Y., Uyguner O., Yüksel-Apak M., and Wollnik B. CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor. Eur J Neurol 9 1 (2002) 23-28
21. Kruit M.C., van Buchem M.A., Hofman P.A., Bakkers J.T., Terwindt G.M., Ferrari M.D., et al. Migraine as a risk factor for subclinical brain lesions. JAMA 291 4 (2004) 427-434
22. van den Boom R., Lesnik Oberstein S.A., Ferrari M.D., Haan J., and van Buchem M.A. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages-3rd-6th decades. Radiology 229 3 (2003) 683-690
23. Dichgans M., Mayer M., Uttner I., Bruning R., Muller-Hocker J., Rungger G., et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 44 5 (1998) 731-739
24. Singhal S., Bevan S., Barrick T., Rich P., and Markus H.S. The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. Brain 127 Pt9 (2004) 2031-2038
25. Dichgans M., Filippi M., Brüning R., Iannucci G., Berchtenbreiter C., Minicucci L., et al. Quantitative MRI in CADASIL: correlation with disability and cognitive performance. Neurology 52 7 (1999) 1361-1367
26. Rubio A., Rifkin D., Powers J.M., Patel U., Stewart J., Faust P., et al. Phenotypic variability of CADASIL and novel morphologic findings. Acta Neuropathol (Berl) 94 3 (1997) 247-254
27. Schultz A., Santoianni R., and Hewan-Lowe K. Vasculopathic changes of CADASIL can be focal in skin biopsies. Ultrastruct Pathol 23 4 (1999) 241-247
28. Joutel A., Favrole P., Labauge P., Chabriat H., Lescoat C., Andreux F., et al. Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. Lancet 358 9298 (2001) 2049-2051
29. Desmond D.W., Moroney J.T., Lynch T., Chan S., Chin S.S., and Mohr J.P. The natural history of CADASIL: a pooled analysis of previously published cases. Stroke 30 6 (1999) 1230-1233
30. Schon F., Martin R.J., Prevett M., Clough C., Enevoldson T.P., and Markus H.S. "CADASIL coma": an underdiagnosed acute encephalopathy. J Neurol Neurosurg Psychiatry 74 2 (2003) 249-252
31. Rufa A., Dotti M.T., Frezzotti P., De Stefano N., Caporossi A., and Federico A. Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Arch Neurol 61 8 (2004) 1230-1233
32. Phillips J.S., King J.A., Chandran S., Prinsley P.R., and Dick D. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) presenting with sudden sensorineural hearing loss. J Laryngol Otol 119 2 (2005) 148-151
33. Sicurelli F., Dotti M.T., De Stefano N., Malandrini A., Mondelli M., Bianchi S., et al. Peripheral neuropathy in CADASIL. J Neurol 252 10 (2005) 1206-1209 [Electronic-publication]
34. Razvi S.S., and Bone I. Neurological consultations in the medical intensive care unit. Review. J Neurol Neurosurg Psychiatry 74 suppl 3 (2003) iii16-iii23
35. Joutel A., Dodick D.D., Parisi J.E., Cecillon M., Tournier-Lasserve E., and Bousser M.G. De novo mutation in the Notch3 gene causing CADASIL. Ann Neurol 47 3 (2000) 338-391
36. Opherk C., Peters N., Herzog J., Luedtke R., and Dichgans M. Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain 127 Pt11 (2004) 2533-2539 [Electronic-publication]