Literature DB >> 15668448

An African American family with early-onset Alzheimer disease and an APP (T714I) mutation.

T Edwards-Lee1, J M Ringman, J Chung, J Werner, A Morgan, P St George Hyslop, P Thompson, R Dutton, A Mlikotic, E Rogaeva, J Hardy.   

Abstract

The occurrence of an APP T174I mutation is described in a large American family of African descent with Alzheimer disease. The clinical characteristics were an unusually early onset of disease (early 30s), similar to a previously reported age at onset of this mutation in an Austrian family. Distinct from that family, seizures and myoclonus were prominent features of the disease in this kindred.

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Year:  2005        PMID: 15668448     DOI: 10.1212/01.WNL.0000149761.70566.3E

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  11 in total

1.  Neuronal Network Excitability in Alzheimer's Disease: The Puzzle of Similar versus Divergent Roles of Amyloid β and Tau.

Authors:  Syed Faraz Kazim; Joon Ho Seo; Riccardo Bianchi; Chloe S Larson; Abhijeet Sharma; Robert K S Wong; Kirill Y Gorbachev; Ana C Pereira
Journal:  eNeuro       Date:  2021-04-23

2.  Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.

Authors:  Aurelie N'Songo; Minerva M Carrasquillo; Xue Wang; Thuy Nguyen; Yan Asmann; Steven G Younkin; Mariet Allen; Ranjan Duara; Maria T Greig Custo; Neill Graff-Radford; Nilüfer Ertekin-Taner
Journal:  J Alzheimers Dis       Date:  2017       Impact factor: 4.472

Review 3.  Network abnormalities and interneuron dysfunction in Alzheimer disease.

Authors:  Jorge J Palop; Lennart Mucke
Journal:  Nat Rev Neurosci       Date:  2016-11-10       Impact factor: 34.870

4.  A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.

Authors:  Simon Kang Seng Ting; Tammie Benzinger; Vladimir Kepe; Anne Fagan; Giovanni Coppola; Verna Porter; Silva Hecimovic; Suma Chakraverty; Ana Isabel Alvarez-Retuerto; Alison Goate; John M Ringman
Journal:  J Alzheimers Dis       Date:  2014       Impact factor: 4.472

5.  Hypermetabolic state in the 7-month-old triple transgenic mouse model of Alzheimer's disease and the effect of lipoic acid: a 13C-NMR study.

Authors:  Harsh Sancheti; Ishan Patil; Keiko Kanamori; Roberta Díaz Brinton; Wei Zhang; Ai-Ling Lin; Enrique Cadenas
Journal:  J Cereb Blood Flow Metab       Date:  2014-08-06       Impact factor: 6.200

Review 6.  Understanding the roles of mutations in the amyloid precursor protein in Alzheimer disease.

Authors:  S Hunter; C Brayne
Journal:  Mol Psychiatry       Date:  2017-11-07       Impact factor: 15.992

7.  Aberrant excitatory neuronal activity and compensatory remodeling of inhibitory hippocampal circuits in mouse models of Alzheimer's disease.

Authors:  Jorge J Palop; Jeannie Chin; Erik D Roberson; Jun Wang; Myo T Thwin; Nga Bien-Ly; Jong Yoo; Kaitlyn O Ho; Gui-Qiu Yu; Anatol Kreitzer; Steven Finkbeiner; Jeffrey L Noebels; Lennart Mucke
Journal:  Neuron       Date:  2007-09-06       Impact factor: 17.173

Review 8.  Epileptic seizures in AD patients.

Authors:  A J Larner
Journal:  Neuromolecular Med       Date:  2009-06-26       Impact factor: 3.843

Review 9.  Alzheimer's disease and vascular dementia in developing countries: prevalence, management, and risk factors.

Authors:  Raj N Kalaria; Gladys E Maestre; Raul Arizaga; Robert P Friedland; Doug Galasko; Kathleen Hall; José A Luchsinger; Adesola Ogunniyi; Elaine K Perry; Felix Potocnik; Martin Prince; Robert Stewart; Anders Wimo; Zhen-Xin Zhang; Piero Antuono
Journal:  Lancet Neurol       Date:  2008-07-28       Impact factor: 44.182

Review 10.  Amyloid-β: a potential link between epilepsy and cognitive decline.

Authors:  Michele Romoli; Arjune Sen; Lucilla Parnetti; Paolo Calabresi; Cinzia Costa
Journal:  Nat Rev Neurol       Date:  2021-06-11       Impact factor: 42.937

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