C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke

J. F. Arboleda-Velasquez; F. Lopera; E. Lopez; M. P. Frosch; D. Sepulveda-Falla; J. E. Gutierrez; S. Vargas; M. Medina; C. Martinez De Arrieta; R. V. Lebo; S. A. Slaugenhaupt; R. A. Betensky; A. Villegas; M. Arcos-Burgos; D. Rivera; J. C. Restrepo; K. S. Kosik

doi:10.1212/WNL.59.2.277

C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke

J. F. Arboleda-Velasquez, F. Lopera, E. Lopez, M. P. Frosch, D. Sepulveda-Falla, J. E. Gutierrez, S. Vargas, M. Medina, C. Martinez De Arrieta, R. V. Lebo, S. A. Slaugenhaupt, R. A. Betensky, A. Villegas, M. Arcos-Burgos, D. Rivera, J. C. Restrepo, K. S. Kosik

Global Public Health

Research output: Contribution to journal › Article › peer-review

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor-like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation.

Original language	English (US)
Pages (from-to)	277-279
Number of pages	3
Journal	Neurology
Volume	59
Issue number	2
DOIs	https://doi.org/10.1212/WNL.59.2.277
State	Published - Jul 23 2002

ASJC Scopus subject areas

Clinical Neurology

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Arboleda-Velasquez, J. F., Lopera, F., Lopez, E., Frosch, M. P., Sepulveda-Falla, D., Gutierrez, J. E., Vargas, S., Medina, M., Martinez De Arrieta, C., Lebo, R. V., Slaugenhaupt, S. A., Betensky, R. A., Villegas, A., Arcos-Burgos, M., Rivera, D., Restrepo, J. C., & Kosik, K. S. (2002). C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology, 59(2), 277-279. https://doi.org/10.1212/WNL.59.2.277

Arboleda-Velasquez, JF, Lopera, F, Lopez, E, Frosch, MP, Sepulveda-Falla, D, Gutierrez, JE, Vargas, S, Medina, M, Martinez De Arrieta, C, Lebo, RV, Slaugenhaupt, SA, Betensky, RA, Villegas, A, Arcos-Burgos, M, Rivera, D, Restrepo, JC & Kosik, KS 2002, 'C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke', Neurology, vol. 59, no. 2, pp. 277-279. https://doi.org/10.1212/WNL.59.2.277

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title = "C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke",

abstract = "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor-like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation.",

author = "Arboleda-Velasquez, {J. F.} and F. Lopera and E. Lopez and Frosch, {M. P.} and D. Sepulveda-Falla and Gutierrez, {J. E.} and S. Vargas and M. Medina and {Martinez De Arrieta}, C. and Lebo, {R. V.} and Slaugenhaupt, {S. A.} and Betensky, {R. A.} and A. Villegas and M. Arcos-Burgos and D. Rivera and Restrepo, {J. C.} and Kosik, {K. S.}",

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doi = "10.1212/WNL.59.2.277",

language = "English (US)",

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T1 - C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke

AU - Arboleda-Velasquez, J. F.

AU - Lopera, F.

AU - Lopez, E.

AU - Frosch, M. P.

AU - Sepulveda-Falla, D.

AU - Gutierrez, J. E.

AU - Vargas, S.

AU - Medina, M.

AU - Martinez De Arrieta, C.

AU - Lebo, R. V.

AU - Slaugenhaupt, S. A.

AU - Betensky, R. A.

AU - Villegas, A.

AU - Arcos-Burgos, M.

AU - Rivera, D.

AU - Restrepo, J. C.

AU - Kosik, K. S.

PY - 2002/7/23

Y1 - 2002/7/23

N2 - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor-like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation.

AB - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor-like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation.

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ER -

C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke

Abstract

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