Linkage of Alzheimer's disease to chromosome 21 and chromosome 19 markers: Effect of age of onset assumptions

1993 ◽  
Vol 10 (6) ◽  
pp. 449-454 ◽  
Author(s):  
L. R. Goldin ◽  
E. S. Gershon
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Age Of Onset ◽  
Chromosome 21 ◽  
Chromosome 19 ◽  
Effect Of Age

scholarly journals Evidence for Allelic Heterogeneity in Familial Early-Onset Alzheimer's Disease

1991 ◽  
Vol 158 (4) ◽  
pp. 471-474 ◽  
Author(s):  
Cornelia M. Van Duijn ◽  
Christine Van Broeckhoven ◽  
John A. Hardy ◽  
Alison M. Goate ◽  
Martin N. Rossor ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Epidemiological Study ◽  
Genetic Counselling ◽  
Early Onset ◽  
Age Of Onset ◽  
Population Based ◽  
Chromosome 21 ◽  
Allelic Heterogeneity ◽  
Early Onset Alzheimer’S Disease

Age of onset was examined for 139 members of 30 families affected by early-onset AD. Most (77%) of the variance of age of onset derived from differences between rather than within families. The constancy of age of onset within families was also observed in an analysis restricted to families derived from a population-based epidemiological study with complete ascertainment of early-onset AD. Furthermore, we observed clustering of age of onset within those families that support linkage to the predisposing locus on chromosome 21. Our data are compatible with the view that allelic heterogeneity at the AD locus may account for the similarity in age of onset within families. This finding may be of value for scientific studies of AD as well as for genetic counselling.

scholarly journals Genetic Markers for Alzheimer's Disease

2015 ◽  
Vol 8 (2) ◽  
Author(s):  
Vanessa Gomes
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Late Onset ◽  
The United States ◽  
Chromosome 21 ◽  
Maladie D’Alzheimer ◽  
Chromosome 19 ◽  
Department Of Health ◽  
Services Sociaux ◽  
App Gene

This report aims to inform on the progression of research into the genetic factors involved in the development of Alzheimer’s disease (AD). AD is a life-altering disease that affects millions of individuals from varying races and ethnic backgrounds1. According to the National Institute on Aging, a faculty of the U.S. Department of Health and Human Services, AD has been ranked as the third leading cause of death in the United States, only behind cancer and heart failure. It is predicted that by 2050, approximately one in 45 Americans will be afflicted with the disease5.            Distinctive physical indications of the onset of AD include neuron loss, amyloid plaques and neurofibrillary tangles5. Onset is not frequent prior to 60 years of age but can be caused by one of two reasons. The first is a mutation in the amyloid precursor protein (APP) gene on chromosome 21. This gene is responsible for the regulation of the production of amyloid beta (Aβ) proteins, which are known to be abundant in the brains of AD patients. A mutation in the gene leads to an inappropriate regulation of this protein. The second, and more common cause is a result of an unidentified gene on chromosome 14 in AD patients2. It has been confirmed that there is involvement of chromosome 19 in late onset AD (LOAD)  as well1. Most of the genes that are associated with the development of AD have yet to be identified, but the research is bringing society closer and closer to that goal everyday.Ce rapport vise à fournir de l’information sur la progression de la recherche au sujet des facteurs génétiques impliqués dans le développement de la maladie d'Alzheimer (MA). La MA est une maladie bouleversant la vie de la personne et qui affecte des millions d’individus de diverses races et ethnicité1. Selon l'Institut national sur le vieillissement, un corps professoral du département américain de la santé et des services sociaux, la MA a été classée comme la troisième cause de décès aux États-Unis, ne cédant le pas qu’au cancer et à l'insuffisance cardiaque. Il est prévu que d'ici l'an 2050, environ une personne sur 45 Américains sera affligée avec cette maladie5.Des indications visuelles distinctives de l'apparition de la MA comprennent la perte des neurones, les plaques amyloïdes et des enchevêtrements neurofibrillaires5. L'apparition précoce n’est pas fréquente avant 60 ans, mais peut être causée par l'une des deux raisons. La première raison est une mutation dans le gène de la protéine précurseur de l'amyloïde (PPA) sur le chromosome 21. Ce gène est responsable de la régulation de la production de protéines bêta-amyloïde (Aß), qui sont connues pour être abondant dans le cerveau des patients atteints de la MA. Une mutation dans le gène conduit à une régulation inappropriée de cette protéine. La seconde cause, et celle-là plus communes sont le résultat d'un gène inconnu sur le chromosome 142. Il a été confirmé qu'il y a aussi une participation du chromosome 19 dans l'apparition tardive de la MA (ATMA)1. La plupart des gènes qui sont associés avec le développement de la MA n’ont pas encore été identifiés, mais la recherche rapproche la société de cet objectif de plus en plus tous les jours.

Progress in Molecular Genetics of Alzheimer's Disease

1996 ◽  
Vol 2 (1) ◽  
pp. 3-6 ◽  
Author(s):  
Fuki M. Hisama ◽  
Gerard D. Schellenberg
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Positional Cloning ◽  
Age Of Onset ◽  
Late Onset ◽  
Chromosome 21 ◽  
Chromosome 1 ◽  
Amyloid Precursor Protein Gene ◽  
Chromosome 14

Recent intensive work has highlighted the genetic basis of several forms of Alzheimer's disease (AD). Mutations in the amyloid precursor protein gene on chromosome 21 can cause either an early-onset autosomal dominant AD or hereditary cerebral hemorrhage with amyloidosis. On chromosome 14, a second gene associated with 70 to 90% early-onset familial AD (FAD) was identified by positional cloning in 1995. Still other kindreds show no linkage to either chromosome 21 or chromosome 14; the third locus (on chromosome 1) was recently identified in affected descendants of a group of families known as the Volga Germans. In late-onset (age >65 years) AD, the apolipoprotein E gene allele ∊e4 on chromosome 19 has clearly been shown to be a risk factor for the development of AD and appears to modify the age of onset of the disease. The emerging picture is that AD is a genetically complex, heterogeneous disorder. Precisely how these genetic factors interact with each other and with other yet-to-be-identified genetic and nongenetic (environmental) factors to produce the clinical and pathologic findings in AD remains to be elucidated. The Neuroscientist 2:3–6, 1996

ApoE genotype and familial Alzheimer's disease: a possible influence on age of onset in APP717 Val → Ile mutated families

1995 ◽  
Vol 183 (1-2) ◽  
pp. 1-3 ◽  
Author(s):  
Benedetta Nacmias ◽  
Stefania Latorraca ◽  
Patrizia Piersanti ◽  
Paolo Forleo ◽  
Silvia Piacentini ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Age Of Onset ◽  
Apoe Genotype ◽  
Familial Alzheimer’S Disease ◽  
Familial Alzheimer's Disease

Nongenetic Factors as Modifiers of the Age of Onset of Familial Alzheimer's Disease

2003 ◽  
Vol 15 (4) ◽  
pp. 337-349 ◽  
Author(s):  
Silvia Mejía ◽  
Margarita Giraldo ◽  
David Pineda ◽  
Alfredo Ardila ◽  
Francisco Lopera
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Logistic Regression ◽  
Early Onset ◽  
Age Of Onset ◽  
Univariate Analysis ◽  
Personal Factors ◽  
Familial Alzheimer’S Disease ◽  
Familial Alzheimer's Disease ◽  
High Level

Objective: The purpose of this research was to identify environmental and personal factors that could be related to the variability in the age of onset of familial Alzheimer's disease (FAD) (36–62 years). Methods: A sample was taken of 49 subjects with FAD and with the mutation E280A in the presenilin-1 gene on chromosome 14; the sample was divided into two subgroups: 27 individuals with age of onset of the disease between 36 and 46 years (early onset) and 22 individuals whose disease began between 47 and 62 years (late onset). Information on environmental and personal factors was collected by means of a questionnaire answered by the patients if their clinical condition allowed it, or by their relatives; such information was organized in a categorical way. Comparisons between the two groups for each categorical variable were done by means of the chi-square test. Noncollinear variables that showed statistical significance were included as independent variables in a logistic regression analysis to predict their association with early onset of the disease. Results: Only 5 of the 140 studied variables were different between the two groups in univariate analysis: education, surgical history, type of stressful event, depression, and affective losses. The logistic regression model was constituted by education, depression, and affective losses. High-level education had approximately 15 times more probability of association with an early onset of the disease; both the history of affective losses and depressive symptoms had 4 times more probability of a similar association. Conclusions: The association of high-level education and early onset of the disease could be related to an earlier detection of symptoms, in turn determined by greater intellectual and environmental demands. The occurrence of depression and affective losses has been considered a prodromic manifestation of the disease. Our findings are evidence of high clinical heterogeneity even in a genetically homogeneous group.

The effect of alcohol and tobacco consumption, and apolipoprotein E genotype, on the age of onset in Alzheimer's disease

2010 ◽  
Vol 25 (5) ◽  
pp. 511-518 ◽  
Author(s):  
Dylan G. Harwood ◽  
Ari Kalechstein ◽  
Warren W. Barker ◽  
Silvia Strauman ◽  
Peter St. George-Hyslop ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Apolipoprotein E ◽  
Age Of Onset ◽  
Tobacco Consumption ◽  
Apolipoprotein E Genotype

scholarly journals The hemochromatosis gene affects the age of onset of sporadic Alzheimer’s disease

2001 ◽  
Vol 22 (4) ◽  
pp. 563-568 ◽  
Author(s):  
M. Sampietro ◽  
L. Caputo ◽  
A. Casatta ◽  
M. Meregalli ◽  
A. Pellagatti ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Age Of Onset ◽  
Sporadic Alzheimer’S Disease ◽  
Hemochromatosis Gene
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