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dc.contributor.author
Tang, Mengxuan
dc.contributor.author
Ryman, Davis C.
dc.contributor.author
McDade, Eric
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Jasielec, Mateusz S.
dc.contributor.author
Buckles, Virginia D.
dc.contributor.author
Cairns, Nigel J.
dc.contributor.author
Fagan, Anne M.
dc.contributor.author
Goate, Alison
dc.contributor.author
Marcus, Daniel S.
dc.contributor.author
Xiong, Chengjie
dc.contributor.author
Allegri, Ricardo Francisco
dc.contributor.author
Chhatwal, Jasmeer P.
dc.contributor.author
Danek, Adrian
dc.contributor.author
Farlow, Martin R.
dc.contributor.author
Fox, Nick C.
dc.contributor.author
Ghetti, Bernardino
dc.contributor.author
Graff-Radford, Neill R.
dc.contributor.author
Laske, Christopher
dc.contributor.author
Martins, Ralph N.
dc.contributor.author
Masters, Colin L.
dc.contributor.author
Mayeux, Richard P.
dc.contributor.author
Ringman, John M.
dc.contributor.author
Rossor, Martin N.
dc.contributor.author
Salloway, Stephen P.
dc.contributor.author
Schofield, Peter R.
dc.contributor.author
Morris, John C.
dc.contributor.author
Bateman, Randall J.
dc.date.available
2018-07-06T20:45:00Z
dc.date.issued
2016-12
dc.identifier.citation
Tang, Mengxuan; Ryman, Davis C.; McDade, Eric; Jasielec, Mateusz S.; Buckles, Virginia D.; et al.; Neurological manifestations of autosomal dominant familial Alzheimer's disease: a comparison of the published literature with the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS); Elsevier Science Inc; Lancet Neurology; 15; 13; 12-2016; 1317-1325
dc.identifier.issn
1474-4422
dc.identifier.uri
http://hdl.handle.net/11336/51545
dc.description.abstract
Background Autosomal dominant familial Alzheimer's disease (ADAD) is a rare disorder with non-amnestic neurological symptoms in some clinical presentations. We aimed to compile and compare data from symptomatic participants in the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS) with those reported in the literature to estimate the prevalences of non-amnestic neurological symptoms in participants with ADAD. Methods We prospectively collected data from the DIAN-OBS database, which recruited participants from study centres in the USA, Europe, and Australia, between Feb 29, 2008, and July 1, 2014. We also did a systematic review of publications to extract individual-level clinical data for symptomatic participants with ADAD. We used data for age of onset (from first report of cognitive decline), disease course from onset to death, and the presence of 13 neurological findings that have been reported in association with ADAD. Using multivariable linear regression, we investigated the prevalences of various non-amnestic neurological symptoms and the contributions of age of onset and specific mutation type on symptoms. Findings The DIAN-OBS dataset included 107 individuals with detailed clinical data (forming the DIAN-OBS cohort). Our systematic review yielded 188 publications reporting on 1228 symptomatic individuals, with detailed neurological examination descriptions available for 753 individuals (forming the published data cohort). The most prevalent non-amnestic cognitive manifestations in participants in the DIAN-OBS cohort were those typical of mild to moderate Alzheimer's disease, including visual agnosia (55·1%, 95% CI 45·7–64·6), aphasia (57·9%, 48·6–67·3), and behavioural changes (61·7%, 51·5–70·0). Non-amnestic cognitive manifestations were less prevalent in the published data cohort (eg, visual agnosia [5·6%, 3·9–7·2], aphasia [23·0%, 20·0–26·0], and behavioural changes [31·7%, 28·4–35·1]). Prevalence of non-cognitive neurological manifestations in the DIAN-OBS cohort was low, including myoclonus and spasticity (9·3%, 95% CI 3·8–15·0), and seizures (2·8%, 0·5–5·9) and moderate for parkinsonism (11·2%, 5·3–17·1). By constrast, prevalence was higher in the published data cohort for myoclonus and spasticity (19·4%, 16·6–22·2 and 15·0%, 12·5–17·6, respectively), parkinsonism (12·5%, 10·1–15·0), and seizures (20·3%, 17·4–23·2). In an analysis of the published data cohort, ischaemic stroke was more prevalent at older ages of onset of symptoms of ADAD (odds ratio 1·09 per 1 year increase in age of onset, 95% CI 1·04–1·14, p=0·0003); and motor symptoms were more common at younger age of onset (myoclonus 0·93, 0·90–0·97, p=0·0007; seizures 0·95, 0·92–0·98, p=0·0018; corticobulbar deficits 0·91, 0·86–0·96, p=0·0012; and cerebellar ataxia 0·82, 0·74–0·91, p=0·0002). In the DIAN-OBS cohort, non-cognitive symptoms were more common at more severe stages of disease. Interpretation The non-cognitive clinical manifestations of Alzheimer's disease seem to affect a small proportion of participants with mild to moderate ADAD, and are probably influenced by disease severity, environmental, and genetic factors. When evaluating patients with potential ADAD, clinicians should note that cognitive symptoms typical of sporadic Alzheimer's disease are the most consistent finding, with some patients manifesting non-cognitive neurological symptoms. Future work is needed to determine the environmental and genetic factors that cause these neurological symptoms. Funding National Institutes of Health and German Center for Neurodegenerative Diseases.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Elsevier Science Inc
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Dominantly Inherited Alzheimer
dc.subject
Neurological
dc.subject
Symptoms
dc.subject
Familial Alzheimer
dc.subject.classification
Medicina Critica y de Emergencia
dc.subject.classification
Medicina Clínica
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Neurological manifestations of autosomal dominant familial Alzheimer's disease: a comparison of the published literature with the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS)
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-05-31T14:39:45Z
dc.journal.volume
15
dc.journal.number
13
dc.journal.pagination
1317-1325
dc.journal.pais
Países Bajos
dc.journal.ciudad
Amsterdam
dc.description.fil
Fil: Tang, Mengxuan. Washington University. School of Medicine; Estados Unidos
dc.description.fil
Fil: Ryman, Davis C.. Washington University. School of Medicine; Estados Unidos
dc.description.fil
Fil: McDade, Eric. Washington University. School of Medicine; Estados Unidos
dc.description.fil
Fil: Jasielec, Mateusz S.. Washington University. School of Medicine; Estados Unidos
dc.description.fil
Fil: Buckles, Virginia D.. Washington University. School of Medicine; Estados Unidos
dc.description.fil
Fil: Cairns, Nigel J.. Washington University. School of Medicine; Estados Unidos
dc.description.fil
Fil: Fagan, Anne M.. Washington University. School of Medicine; Estados Unidos
dc.description.fil
Fil: Goate, Alison. Washington University. School of Medicine; Estados Unidos
dc.description.fil
Fil: Marcus, Daniel S.. Washington University. School of Medicine; Estados Unidos
dc.description.fil
Fil: Xiong, Chengjie. Washington University. School of Medicine; Estados Unidos
dc.description.fil
Fil: Allegri, Ricardo Francisco. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Chhatwal, Jasmeer P.. Brigham and Women’s Hospital; Estados Unidos
dc.description.fil
Fil: Danek, Adrian. Ludwig-Maximilians Universität Munich. Neurologische Klinik; Alemania
dc.description.fil
Fil: Farlow, Martin R.. Indiana University; Estados Unidos
dc.description.fil
Fil: Fox, Nick C.. University College London; Estados Unidos
dc.description.fil
Fil: Ghetti, Bernardino. Indiana University; Estados Unidos
dc.description.fil
Fil: Graff-Radford, Neill R.. Mayo Clinic; Estados Unidos
dc.description.fil
Fil: Laske, Christopher. German Center for Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research; Alemania
dc.description.fil
Fil: Martins, Ralph N.. Edith Cowan
University. School of Exercise,
Biomedical and Health
Sciences. Centre of Excellence for
Alzheimer’s Disease Research
and Care; Australia
dc.description.fil
Fil: Masters, Colin L.. University of Melbourne. Mental Health Research Institute; Australia
dc.description.fil
Fil: Mayeux, Richard P.. Columbia University Medical Center. Taub Institute for Research on Alzheimer’s Disease and the Aging Brain; Estados Unidos
dc.description.fil
Fil: Ringman, John M.. University of Southern California. Keck School of Medicine; Estados Unidos
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Fil: Rossor, Martin N.. University College London; Estados Unidos
dc.description.fil
Fil: Salloway, Stephen P.. Brown University. Warren Alpert Medical School; Estados Unidos
dc.description.fil
Fil: Schofield, Peter R.. University of New South Wales; Australia
dc.description.fil
Fil: Morris, John C.. University of Washington; Estados Unidos
dc.description.fil
Fil: Bateman, Randall J.. University of Washington; Estados Unidos
dc.journal.title
Lancet Neurology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/S1474-4422(16)30229-0
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