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Article: A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences

TitleA systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences
Authors
KeywordsAmyloid precursor protein
Autosomal dominant
Familial Alzheimer's disease
Presenilin-1
Presenilin-2
Issue Date2016
PublisherElsevier (Singapore) Pte Ltd, Hong Kong Branch. The Journal's web site is located at http://www.elsevier.com/locate/inca/708700
Citation
Journal of the Formosan Medical Association, 2016, v. 115 n. 2, p. 67-75 How to Cite?
AbstractThere are great diversities of clinical phenotypes among the various familial Alzheimer's disease (FAD) families. We aimed to systematically review all the previously reported cases of FAD and to perform comparisons between Asian and white patients. In this regard, we collected individual-level data from 658 pedigrees. We found that patients with presenilin 1 (PSEN1) mutations had the earliest age of onset (AOO; 43.3 ± 8.6 years, p < 0.001) and were more commonly affected by seizures, spastic paraparesis, myoclonus, and cerebellar signs (p < 0.001, p < 0.001, p = 0.003, and p = 0.002, respectively). Patients with PSEN2 mutations have a delayed AOO with longest disease duration and presented more frequently with disorientation (p = 0.03). Patients with amyloid precursor protein (APP) mutations presented more frequently with aggression (p = 0.02) and those with APP duplication presented more frequently with apraxia (p = 0.03). PSEN1 mutations before codon 200 had an earlier AOO than those having mutations after codon 200 (41.4 ± 8.0 years vs. 44.7 ± 8.7 years, p < 0.001). Because 42.9% of the mutations reported are novel, the mutation spectrum and clinical features in Asian FAD families could be different from that of whites. Asian patients with PSEN1 mutations presented more frequently with disorientation (p = 0.02) and personality change (p = 0.01) but less frequently with atypical clinical features. Asian patients with APP mutations presented less frequently with aphasia (p = 0.02). Thus, clinical features could be modified by underlying mutations, and Asian FAD patients may have different clinical features when compared with whites.
Persistent Identifierhttp://hdl.handle.net/10722/234398
ISSN
2019 Impact Factor: 3.008
2015 SCImago Journal Rankings: 0.607
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorShea, YF-
dc.contributor.authorChu, LW-
dc.contributor.authorChan, AO-
dc.contributor.authorHa, J-
dc.contributor.authorLi, Y-
dc.contributor.authorSong, Y-
dc.date.accessioned2016-10-14T13:46:36Z-
dc.date.available2016-10-14T13:46:36Z-
dc.date.issued2016-
dc.identifier.citationJournal of the Formosan Medical Association, 2016, v. 115 n. 2, p. 67-75-
dc.identifier.issn0929-6646-
dc.identifier.urihttp://hdl.handle.net/10722/234398-
dc.description.abstractThere are great diversities of clinical phenotypes among the various familial Alzheimer's disease (FAD) families. We aimed to systematically review all the previously reported cases of FAD and to perform comparisons between Asian and white patients. In this regard, we collected individual-level data from 658 pedigrees. We found that patients with presenilin 1 (PSEN1) mutations had the earliest age of onset (AOO; 43.3 ± 8.6 years, p < 0.001) and were more commonly affected by seizures, spastic paraparesis, myoclonus, and cerebellar signs (p < 0.001, p < 0.001, p = 0.003, and p = 0.002, respectively). Patients with PSEN2 mutations have a delayed AOO with longest disease duration and presented more frequently with disorientation (p = 0.03). Patients with amyloid precursor protein (APP) mutations presented more frequently with aggression (p = 0.02) and those with APP duplication presented more frequently with apraxia (p = 0.03). PSEN1 mutations before codon 200 had an earlier AOO than those having mutations after codon 200 (41.4 ± 8.0 years vs. 44.7 ± 8.7 years, p < 0.001). Because 42.9% of the mutations reported are novel, the mutation spectrum and clinical features in Asian FAD families could be different from that of whites. Asian patients with PSEN1 mutations presented more frequently with disorientation (p = 0.02) and personality change (p = 0.01) but less frequently with atypical clinical features. Asian patients with APP mutations presented less frequently with aphasia (p = 0.02). Thus, clinical features could be modified by underlying mutations, and Asian FAD patients may have different clinical features when compared with whites.-
dc.languageeng-
dc.publisherElsevier (Singapore) Pte Ltd, Hong Kong Branch. The Journal's web site is located at http://www.elsevier.com/locate/inca/708700-
dc.relation.ispartofJournal of the Formosan Medical Association-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectAmyloid precursor protein-
dc.subjectAutosomal dominant-
dc.subjectFamilial Alzheimer's disease-
dc.subjectPresenilin-1-
dc.subjectPresenilin-2-
dc.titleA systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences-
dc.typeArticle-
dc.identifier.emailSong, Y: songy@hku.hk-
dc.identifier.authoritySong, Y=rp00488-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1016/j.jfma.2015.08.004-
dc.identifier.pmid26337232-
dc.identifier.scopuseid_2-s2.0-84960211552-
dc.identifier.hkuros269075-
dc.identifier.volume115-
dc.identifier.issue2-
dc.identifier.spage67-
dc.identifier.epage75-
dc.identifier.isiWOS:000372019800002-
dc.publisher.placeHong Kong-

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