Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia

2017 ◽  
Vol 56 ◽  
pp. 212.e11-212.e17 ◽  
Author(s):  
Jiyun Park ◽  
Seong Soo A. An ◽  
Vo Van Giau ◽  
Kyuhwan Shim ◽  
Young Chul Youn ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Family History ◽  
Early Onset ◽  
Korean Patient ◽  
Psen1 Mutation ◽  
History Of ◽  
Early Onset Alzheimer’S Disease

A Family with Multiple Instances of Definite, Probable and Possible Early-Onset Alzheimer's Disease

1991 ◽  
Vol 159 (4) ◽  
pp. 524-530 ◽  
Author(s):  
H. Karlinsky ◽  
E. Madrick ◽  
J. Ridgley ◽  
J. M. Berg ◽  
R. Becker ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Age Of Onset ◽  
Diagnostic Difficulties ◽  
History Of ◽  
Early Onset Alzheimer’S Disease ◽  
The Mean ◽  
Age Of Death

A family with a multigenerational history of proven or suspected early-onset Alzheimer's disease (AD) consistent with autosomal-dominant inheritance is described. To date, the pedigree comprises five generations in which there are 13 known affected individuals. The mean age of onset of cognitive deficits in those for whom data are available (n = 11) is 47.6 (s.d. 3.0) years and the mean age of death (n = 10) is 58.8 (s.d. 4.0) years. The variability in the extent and quality of available data illustrates the diagnostic difficulties encountered in ascertaining such an extended pedigree, and the need for caution in interpreting the evidence.

Clinical and Molecular Studies Reveal a PSEN1 Mutation (L153V) in a Peruvian Family with Early-Onset Alzheimer's Disease (P05.072)

Neurology ◽  
2012 ◽  
Vol 78 (Meeting Abstracts 1) ◽  
pp. P05.072-P05.072
Author(s):  
M. Cornejo Olivas ◽  
J. Leverenz ◽  
S. Lindo-Samanamud ◽  
I. Mata ◽  
P. Mazzetti Soler ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Psen1 Mutation ◽  
Molecular Studies ◽  
Early Onset Alzheimer’S Disease

scholarly journals P4-100: PSEN1 MUTATION (L166V) IN AN ARGENTINE CASE WITH FAMILIAL EARLY ONSET ALZHEIMER'S DISEASE AND AMYLOID ANGIOPATHY

2019 ◽  
Vol 15 ◽  
pp. P1313-P1313
Author(s):  
Micaela Barbieri Kennedy ◽  
Patricio Chrem ◽  
Miguel Riudavets ◽  
Tatiana Itzcovich ◽  
Matias Niikado ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Amyloid Angiopathy ◽  
Psen1 Mutation ◽  
Early Onset Alzheimer’S Disease

Family history of dementia in early-onset versus very late-onset Alzheimer's disease

2006 ◽  
Vol 21 (6) ◽  
pp. 597-598 ◽  
Author(s):  
Aaron M. McMurtray ◽  
John Ringman ◽  
Steven Z. Chao ◽  
Eliot Licht ◽  
Ronald E. Saul ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Family History ◽  
Early Onset ◽  
Late Onset ◽  
History Of

scholarly journals Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation

2018 ◽  
Vol 62 ◽  
pp. 244.e15-244.e17 ◽  
Author(s):  
Jen-Chyong Wang ◽  
Somayeh Alinaghi ◽  
Abbas Tafakhori ◽  
Elizabeth Sikora ◽  
Luis J. Azcona ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Screening ◽  
Early Onset ◽  
Psen1 Mutation ◽  
Early Onset Alzheimer’S Disease

scholarly journals Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease

2014 ◽  
Vol 563 ◽  
pp. 140-143 ◽  
Author(s):  
Mario R. Cornejo-Olivas ◽  
Chang-En Yu ◽  
Pilar Mazzetti ◽  
Ignacio F. Mata ◽  
Maria Meza ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Psen1 Mutation ◽  
Molecular Studies ◽  
Early Onset Alzheimer’S Disease
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