A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene

G Rossi, G Giaccone, R Maletta, M Morbin… - Neurology, 2004 - AAN Enterprises
Three members of an Italian family with autosomal dominant dementia and multiple strokes
had the A713T mutation of the APP gene. The neuropathologic examination of the proband …

Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family

ME Conidi, L Bernardi, G Puccio, N Smirne… - Neurology, 2015 - AAN Enterprises
Objective: To report, for the first time, a large autosomal dominant Alzheimer disease (AD)
family in which the APP A713T mutation is present in the homozygous and heterozygous …

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

T Edwards-Lee, JM Ringman, J Chung, J Werner… - Neurology, 2005 - AAN Enterprises
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 …

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the β‐amyloid …

H Karlinsky, G Vaula, JL Haines, J Ridgley… - Neurology, 1992 - AAN Enterprises
We present prospective clinical and neuropathologic details of a pedigree segregating
familial Alzheimer's disease (FAD) associated with a mutation (G→ A substitution) at …

An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala)

P Pasalar, H Najmabadi, AR Noorian, B Moghimi… - Neurology, 2002 - AAN Enterprises
An Iranian family with Alzheimer’s disease caused by a novel APP mutation (Thr714Ala) |
Neurology Skip to main content Skip to main content AAN.com AAN Publications Author Center …

Novel polymorphism in the A4 region of the amyloid precursor protein gene in a patient without Alzheimer's disease

ML Peacock, JT Warren Jr, AD Roses, JK Fink - Neurology, 1993 - AAN Enterprises
We found a novel polymorphism in the amyloid precursor protein (APP) gene in a patient
with ischemic cerebrovascular disease who had no evidence of Alzheimer's disease (AD) …

Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→ Gly mutation

P Cras, F van Harskamp, L Hendriks, C Ceuterick… - Acta …, 1998 - Springer
Abstract Mutations at codons 717 and 670/671 in the amyloid precursor protein (APP) are
rare genetic causes of familial Alzheimer's disease (AD). A mutation at codon 693 of APP …

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene

L Hendriks, CM van Duijn, P Cras, M Cruts… - Nature …, 1992 - nature.com
Several families with an early–onset form of familial Alzheimer's disease have been found to
harbour mutations at a specific codon (717) of the gene for the β–amyloid precursor protein …

Alzheimer's Disease Families with Amyloid Precursor Protein Mutationsa

MN Rossor, S Newman, RSJ Frackowiak… - Annals of the New …, 1993 - Wiley Online Library
Early onset Familial Alzheimer's Disease (FAD) is an autosomal dominant disease with
apparent complete penetrance. It is genetically heterogeneous with some families carrying …

Case of autosomal dominant Alzheimer disease with negative findings from PiB-PET examination

H Sun, Y Wang, Y Wang, F Zeng - Neurology: Genetics, 2023 - AAN Enterprises
Background and Objectives This study reports an uncommon case of autosomal dominant
Alzheimer disease (AD) with negative PiB-PET findings. Methods A 55-year-old woman was …