Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease

María Carmona-Iragui; Mircea Balasa; Bessy Benejam; Daniel Alcolea; Susana Fernández; Laura Videla; Isabel Sala; María Belén Sánchez-Saudinós; Estrella Morenas-Rodriguez; Roser Ribosa-Nogué; Ignacio Illán-Gala; Sofía Gonzalez-Ortiz; Jordi Clarimón; Frederick Schmitt; David K. Powell; Beatriz Bosch; Albert Lladó; Michael S. Rafii; Elizabeth Head; José Luis Molinuevo; Rafael Blesa; Sebastián Videla; Alberto Lleó; Raquel Sánchez-Valle; Juan Fortea

doi:10.1016/j.jalz.2017.03.007

Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease

María Carmona-Iragui, Mircea Balasa, Bessy Benejam, Daniel Alcolea, Susana Fernández, Laura Videla, Isabel Sala, María Belén Sánchez-Saudinós, Estrella Morenas-Rodriguez, Roser Ribosa-Nogué, Ignacio Illán-Gala, Sofía Gonzalez-Ortiz, Jordi Clarimón, Frederick Schmitt, David K. Powell, Beatriz Bosch, Albert Lladó, Michael S. Rafii, Elizabeth Head, José Luis MolinuevoRafael Blesa, Sebastián Videla, Alberto Lleó, Raquel Sánchez-Valle, Juan Fortea

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Abstract

© 2017 the Alzheimer's Association Introduction We aimed to investigate if cerebral amyloid angiopathy (CAA) is more frequent in genetically determined than in sporadic early-onset forms of Alzheimer's disease (AD) (early-onset AD [EOAD]). Methods Neuroimaging features of CAA, apolipoprotein (APOE), and cerebrospinal fluid amyloid β (Aβ) 40 levels were studied in subjects with Down syndrome (DS, n = 117), autosomal-dominant AD (ADAD, n = 29), sporadic EOAD (n = 42), and healthy controls (n = 68). Results CAA was present in 31%, 38%, and 12% of cognitively impaired DS, symptomatic ADAD, and sporadic EOAD subjects and in 13% and 4% of cognitively unimpaired DS individuals and healthy controls, respectively. APOE ε4 genotype was borderline significantly associated with CAA in sporadic EOAD (P =.06) but not with DS or ADAD. There were no differences in Aβ040 levels between groups or between subjects with and without CAA. Discussion CAA is more frequently found in genetically determined AD than in sporadic EOAD. Cerebrospinal fluid Aβ40 levels are not a useful biomarker for CAA in AD.

Original language	English
Pages (from-to)	1251-1260
Journal	Alzheimer's and Dementia
Volume	13
Issue number	11
DOIs	https://doi.org/10.1016/j.jalz.2017.03.007
Publication status	Published - 1 Nov 2017

Keywords

Autosomal-dominant Alzheimer's disease
Cerebral amyloid angiopathy
Cerebrospinal fluid biomarkers
Down syndrome
Neuroimaging
Sporadic early-onset Alzheimer's disease

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10.1016/j.jalz.2017.03.007

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Carmona-Iragui, M., Balasa, M., Benejam, B., Alcolea, D., Fernández, S., Videla, L., Sala, I., Sánchez-Saudinós, M. B., Morenas-Rodriguez, E., Ribosa-Nogué, R., Illán-Gala, I., Gonzalez-Ortiz, S., Clarimón, J., Schmitt, F., Powell, D. K., Bosch, B., Lladó, A., Rafii, M. S., Head, E., ... Fortea, J. (2017). Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease. Alzheimer's and Dementia, 13(11), 1251-1260. https://doi.org/10.1016/j.jalz.2017.03.007

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abstract = "{\textcopyright} 2017 the Alzheimer's Association Introduction We aimed to investigate if cerebral amyloid angiopathy (CAA) is more frequent in genetically determined than in sporadic early-onset forms of Alzheimer's disease (AD) (early-onset AD [EOAD]). Methods Neuroimaging features of CAA, apolipoprotein (APOE), and cerebrospinal fluid amyloid β (Aβ) 40 levels were studied in subjects with Down syndrome (DS, n = 117), autosomal-dominant AD (ADAD, n = 29), sporadic EOAD (n = 42), and healthy controls (n = 68). Results CAA was present in 31%, 38%, and 12% of cognitively impaired DS, symptomatic ADAD, and sporadic EOAD subjects and in 13% and 4% of cognitively unimpaired DS individuals and healthy controls, respectively. APOE ε4 genotype was borderline significantly associated with CAA in sporadic EOAD (P =.06) but not with DS or ADAD. There were no differences in Aβ040 levels between groups or between subjects with and without CAA. Discussion CAA is more frequently found in genetically determined AD than in sporadic EOAD. Cerebrospinal fluid Aβ40 levels are not a useful biomarker for CAA in AD.",

keywords = "Autosomal-dominant Alzheimer's disease, Cerebral amyloid angiopathy, Cerebrospinal fluid biomarkers, Down syndrome, Neuroimaging, Sporadic early-onset Alzheimer's disease",

author = "Mar{\'i}a Carmona-Iragui and Mircea Balasa and Bessy Benejam and Daniel Alcolea and Susana Fern{\'a}ndez and Laura Videla and Isabel Sala and S{\'a}nchez-Saudin{\'o}s, {Mar{\'i}a Bel{\'e}n} and Estrella Morenas-Rodriguez and Roser Ribosa-Nogu{\'e} and Ignacio Ill{\'a}n-Gala and Sof{\'i}a Gonzalez-Ortiz and Jordi Clarim{\'o}n and Frederick Schmitt and Powell, {David K.} and Beatriz Bosch and Albert Llad{\'o} and Rafii, {Michael S.} and Elizabeth Head and Molinuevo, {Jos{\'e} Luis} and Rafael Blesa and Sebasti{\'a}n Videla and Alberto Lle{\'o} and Raquel S{\'a}nchez-Valle and Juan Fortea",

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Carmona-Iragui, M, Balasa, M, Benejam, B, Alcolea, D, Fernández, S, Videla, L, Sala, I, Sánchez-Saudinós, MB, Morenas-Rodriguez, E, Ribosa-Nogué, R, Illán-Gala, I, Gonzalez-Ortiz, S, Clarimón, J, Schmitt, F, Powell, DK, Bosch, B, Lladó, A, Rafii, MS, Head, E, Molinuevo, JL, Blesa, R, Videla, S, Lleó, A, Sánchez-Valle, R & Fortea, J 2017, 'Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease', Alzheimer's and Dementia, vol. 13, no. 11, pp. 1251-1260. https://doi.org/10.1016/j.jalz.2017.03.007

TY - JOUR

T1 - Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease

AU - Carmona-Iragui, María

AU - Balasa, Mircea

AU - Benejam, Bessy

AU - Alcolea, Daniel

AU - Fernández, Susana

AU - Videla, Laura

AU - Sala, Isabel

AU - Sánchez-Saudinós, María Belén

AU - Morenas-Rodriguez, Estrella

AU - Ribosa-Nogué, Roser

AU - Illán-Gala, Ignacio

AU - Gonzalez-Ortiz, Sofía

AU - Clarimón, Jordi

AU - Schmitt, Frederick

AU - Powell, David K.

AU - Bosch, Beatriz

AU - Lladó, Albert

AU - Rafii, Michael S.

AU - Head, Elizabeth

AU - Molinuevo, José Luis

AU - Blesa, Rafael

AU - Videla, Sebastián

AU - Lleó, Alberto

AU - Sánchez-Valle, Raquel

AU - Fortea, Juan

PY - 2017/11/1

Y1 - 2017/11/1

N2 - © 2017 the Alzheimer's Association Introduction We aimed to investigate if cerebral amyloid angiopathy (CAA) is more frequent in genetically determined than in sporadic early-onset forms of Alzheimer's disease (AD) (early-onset AD [EOAD]). Methods Neuroimaging features of CAA, apolipoprotein (APOE), and cerebrospinal fluid amyloid β (Aβ) 40 levels were studied in subjects with Down syndrome (DS, n = 117), autosomal-dominant AD (ADAD, n = 29), sporadic EOAD (n = 42), and healthy controls (n = 68). Results CAA was present in 31%, 38%, and 12% of cognitively impaired DS, symptomatic ADAD, and sporadic EOAD subjects and in 13% and 4% of cognitively unimpaired DS individuals and healthy controls, respectively. APOE ε4 genotype was borderline significantly associated with CAA in sporadic EOAD (P =.06) but not with DS or ADAD. There were no differences in Aβ040 levels between groups or between subjects with and without CAA. Discussion CAA is more frequently found in genetically determined AD than in sporadic EOAD. Cerebrospinal fluid Aβ40 levels are not a useful biomarker for CAA in AD.

AB - © 2017 the Alzheimer's Association Introduction We aimed to investigate if cerebral amyloid angiopathy (CAA) is more frequent in genetically determined than in sporadic early-onset forms of Alzheimer's disease (AD) (early-onset AD [EOAD]). Methods Neuroimaging features of CAA, apolipoprotein (APOE), and cerebrospinal fluid amyloid β (Aβ) 40 levels were studied in subjects with Down syndrome (DS, n = 117), autosomal-dominant AD (ADAD, n = 29), sporadic EOAD (n = 42), and healthy controls (n = 68). Results CAA was present in 31%, 38%, and 12% of cognitively impaired DS, symptomatic ADAD, and sporadic EOAD subjects and in 13% and 4% of cognitively unimpaired DS individuals and healthy controls, respectively. APOE ε4 genotype was borderline significantly associated with CAA in sporadic EOAD (P =.06) but not with DS or ADAD. There were no differences in Aβ040 levels between groups or between subjects with and without CAA. Discussion CAA is more frequently found in genetically determined AD than in sporadic EOAD. Cerebrospinal fluid Aβ40 levels are not a useful biomarker for CAA in AD.

KW - Autosomal-dominant Alzheimer's disease

KW - Cerebral amyloid angiopathy

KW - Cerebrospinal fluid biomarkers

KW - Down syndrome

KW - Neuroimaging

KW - Sporadic early-onset Alzheimer's disease

U2 - 10.1016/j.jalz.2017.03.007

DO - 10.1016/j.jalz.2017.03.007

M3 - Article

VL - 13

SP - 1251

EP - 1260

IS - 11

ER -

Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease

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Keywords

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