scholarly journals Late‐onset presentation and phenotypic heterogeneity of the rare R377W PSEN1 mutation

2020 ◽  
Vol 27 (12) ◽  
pp. 2630-2634
Author(s):  
M. Scarioni ◽  
A. Arighi ◽  
C. Fenoglio ◽  
F. Sorrentino ◽  
M. Serpente ◽  
...  
Keyword(s):  
Late Onset ◽  
Phenotypic Heterogeneity ◽  
Psen1 Mutation

Phenotypic heterogeneity of the rare R377W PSEN1 mutation: Late‐onset presentation with mixed Alzheimer’s and frontotemporal dementia features

2020 ◽  
Vol 16 (S3) ◽  
Author(s):  
Marta Scarioni ◽  
Andrea Arighi ◽  
Chiara Fenoglio ◽  
Maria Serpente ◽  
Emanuela Rotondo ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Late Onset ◽  
Phenotypic Heterogeneity ◽  
Psen1 Mutation

Interfamilial and Intrafamilial Phenotypic Heterogeneity in Familial Alzheimer's Disease

1997 ◽  
Vol 10 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Robert F. Lopez-Alberola ◽  
Warren W. Barker ◽  
Dylan G. Harwood ◽  
David A. Loewenstein ◽  
Peter H. St. George-Hyslop ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Late Onset ◽  
Phenotypic Expression ◽  
Phenotypic Heterogeneity ◽  
Cortical Atrophy ◽  
Imaging Features ◽  
Familial Alzheimer’S Disease ◽  
Familial Alzheimer's Disease

The features of Alzheimer's disease (AD) are very heterogenous, and some component of the variability of AD is likely to be related to genetic factors. To investigate this question, we evaluated 19 clinical neuropsychiatric and brain imaging features in 32 familial Alzheimer's disease (FAD) kindred, primarily of late onset. Within families, patients displayed a high degree of phenotypic heterogeneity (PH), which occurred irrespective of gender, ethnicity, or apolipoprotein E genotype. Overall, an equivalent amount of PH was observed in both the between- (37%) and within-family (31%) groups. However, for onset age and rate of decline between families, there was greater PH than within families ( P = .002 and P = .01, respectively). A similar trend was found for severity of cortical atrophy ( P = .05). These observations suggest a weak genetic influence, and possibly strong nongenetic influences, on the degree of phenotypic heterogeneity in late-onset FAD. In early-onset AD kindred, a much smaller degree of phenotypic heterogeneity may be expected within families, because genetic influences in phenotypic expression tend to be more prominent in early-onset cases.

scholarly journals Fine Mapping of the Chromosome 12 Late-Onset Alzheimer Disease Locus: Potential Genetic and Phenotypic Heterogeneity

2000 ◽  
Vol 66 (3) ◽  
pp. 922-932 ◽  
Author(s):  
W.K. Scott ◽  
J.M. Grubber ◽  
P.M. Conneally ◽  
G.W. Small ◽  
C.M. Hulette ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Fine Mapping ◽  
Late Onset ◽  
Phenotypic Heterogeneity ◽  
Disease Locus ◽  
Chromosome 12

Late-Onset Anaphylaxis to Omalizumab Reported

2006 ◽  
Vol 37 (6) ◽  
pp. 6
Author(s):  
PATRICE WENDLING
Keyword(s):  
Late Onset

Familial Patterns of Risk in Very Late-Onset Alzheimer's Disease

2003 ◽  
Author(s):  
J. M. Silverman ◽  
C. J. Smith ◽  
D. B. Marin ◽  
R. C. Mohs ◽  
C. B. Propper
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Late Onset ◽  
Familial Patterns
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