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

Journal of the Formosan Medical Association = Taiwan Yi Zhi
Yat-Fung SheaYou-Qiang Song

Abstract

There 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. Asi...Continue Reading

References

Mar 12, 1997·JAMA : the Journal of the American Medical Association·F LoperaK S Kosik
Jan 25, 2000·Journal of Neurology, Neurosurgery, and Psychiatry·M YasudaC Tanaka
Nov 17, 2001·JAMA : the Journal of the American Medical Association·E S AthanR Mayeux
Mar 5, 2003·Brain : a Journal of Neurology·William S BrooksPeter R Schofield
Jun 18, 2003·Archives of Neurology·Gregory A RipponTimothy Lynch
Jun 18, 2004·Journal of Neurology, Neurosurgery, and Psychiatry·Y WakutaniK Nakashima
Nov 10, 2004·Neurology·A K GodboltM N Rossor
Sep 9, 2006·Brain : a Journal of Neurology·Lucie CabrejoDidier Hannequin
Dec 3, 2008·Neurology·I Guyant-MarechalD Hannequin
Aug 18, 2009·Journal of Neurology, Neurosurgery, and Psychiatry·K KasugaT Ikeuchi
Oct 3, 2009·American Journal of Alzheimer's Disease and Other Dementias·Latchezar Dintchov TraykovChristine Van Broeckhoven
Apr 9, 2010·Brain : a Journal of Neurology·Suman JayadevThomas D Bird
Apr 17, 2012·Neurobiology of Aging·Ebba LohmannAndrew Singleton
May 11, 2012·Dementia and Geriatric Cognitive Disorders·Takanori IshizukaAkira Sano
May 15, 2012·Human Mutation·Marc CrutsChristine Van Broeckhoven
Oct 18, 2013·Alzheimer's Research & Therapy·Krista L MoulderJohn C Morris
Jun 15, 2014·Neurology·Davis C RymanUNKNOWN Dominantly Inherited Alzheimer Network

❮ Previous
Next ❯

Citations

Mar 23, 2017·Lancet Neurology·Keith A VosselBruce L Miller
Apr 6, 2018·International Journal of Molecular Sciences·Marina P SánchezJosé M Serratosa
Aug 11, 2017·Alzheimer Disease and Associated Disorders·Dénes ZádoriPéter Klivényi
Aug 2, 2017·The Australian and New Zealand Journal of Psychiatry·Kok-Yoon CheeRoziana Ariffin
Mar 22, 2019·Brain : a Journal of Neurology·Jonathan VögleinUNKNOWN Dominantly Inherited Alzheimer Network
Sep 26, 2020·Alzheimer's & Dementia : the Journal of the Alzheimer's Association·Xu-Qiao ChenWilliam C Mobley
Jun 13, 2019·Biological Chemistry·Shadaan ZulfiqarKatja Nieweg
Apr 4, 2020·Neurocase·Saloua FraySamir Belal
Dec 15, 2018·Brain and Behavior·Limin MaMiaomiao Yang
Jun 24, 2017·Frontiers in Neuroanatomy·Xia HuXiao-Xin Yan
Feb 5, 2019·Journal of Alzheimer's Disease : JAD·Ankur A PatelDavid H Chang
Oct 3, 2020·Case Reports in Neurological Medicine·Aljoharah AlakkasJonathan Bui
Nov 11, 2020·Nature Reviews. Neurology·Carolin A M KoriathSimon Mead
Nov 24, 2020·Neurology. Genetics·Ivanna M PavisicNatalie S Ryan
Jan 26, 2021·Frontiers in Molecular Neuroscience·Audrey Hector, Jonathan Brouillette
Jun 25, 2020·Current Alzheimer Research·Jiajia ZhouGuoping Peng
May 19, 2020·Seminars in Cell & Developmental Biology·Lucía Chávez-Gutiérrez, Maria Szaruga
Apr 6, 2021·Frontiers in Aging Neuroscience·Xinshi WangPatrick Kwan
Jun 3, 2021·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Anatoly S UrbanEduard V Bocharov
Aug 5, 2021·Disease Models & Mechanisms·Larissa TraxlerJerome Mertens
Aug 24, 2021·Journal of Alzheimer's Disease : JAD·Federica SorrentinoDaniela Galimberti

❮ Previous
Next ❯

Related Concepts

Related Feeds

Alzheimer's Disease: Amyloid Beta

Alzheimer's disease is a neurodegenerative disease associated with the accumulation of amyloid plaques in the brain; these plaques are comprised of amyloid beta deposits. Here is the latest research in this field.

Alzheimer's Disease: APP

Amyloid precursor protein (APP) proteolysis is critical for the development of Alzheimer's disease, a neurodegenerative disease associated with accumulation of amyloid plaques in the brain. Here is the latest research on APP and Alzheimer's disease.

Related Papers

Journal of the Neurological Sciences
Suzanne Granhøj LindquistGunhild Waldemar
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Hee-Jin KimSeung Hyun Kim
© 2021 Meta ULC. All rights reserved