Chromosome 21, Trisomy 21, and Alzheimer’s Disease

1988 ◽  
pp. 89-94
Author(s):  
P.-M. Sinet ◽  
Z. Rahmani ◽  
J.-L. Blouin ◽  
A. Nicole ◽  
I. Ceballos ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Trisomy 21 ◽  
Chromosome 21

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.

Major Depression in Down's Syndrome

1989 ◽  
Vol 155 (2) ◽  
pp. 202-205 ◽  
Author(s):  
A. C. Warren ◽  
S. Holroyd ◽  
M. F. Folstein
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Major Depression ◽  
Effective Treatment ◽  
Electroconvulsive Therapy ◽  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Behavioural Deterioration

Five patients with trisomy 21 (Down's syndrome (DS)), referred to us for evaluation of dementia, were instead found to have major depression. All had shown cognitive and behavioural deterioration and this had led to a mistaken diagnosis of Alzheimer's disease in two. We outline and contrast the features of major depression and Alzheimer's disease in DS, and suggest that electroconvulsive therapy is an effective treatment for major depression in DS.

Identification of chromosome 21 DNA polymorphisms for genetic studies in Alzheimer's disease and Down syndrome

1991 ◽  
Vol 87 (6) ◽  
pp. 649-653 ◽  
Author(s):  
G. Van Camp ◽  
H. Backhovens ◽  
M. Cruts ◽  
A. Wehnert ◽  
W. Van Hul ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Chromosome 21 ◽  
Dna Polymorphisms ◽  
Genetic Studies

scholarly journals Concomitance of numerical chromosomal alterations with structural in an elderly with Alzheimer’s disease: a case report

2019 ◽  
Vol 29 (4) ◽  
pp. 34464
Author(s):  
Kledson Moraes Nunes ◽  
Talísia Nascimento Vianez ◽  
Denise Corrêa Benzaquem ◽  
Natalia Dayane Moura Carvalho ◽  
Cleiton Fantin
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Chromosomal Abnormalities ◽  
Late Onset ◽  
Cognitive Disorder ◽  
Chromosome 21 ◽  
Chromosome 1 ◽  
Chromosome 15 ◽  
First Case ◽  
And Control

AIMS: To report the first case the concomitance of numerical chromosomal abnormalities with structural as well as chromosomal abnormalities structural in a patient diagnosed with Alzheimer disease in Manaus/Amazonas.CASE DESCRIPTION: A male patient with 76 years of age was diagnosed with diagnosis of cognitive disorder- Alzheimer’s disease with late onset - temporal variant after laboratory, physical and imaging exams. Cytogenetic analysis was requested for this patient, revealing the presence the concomitant of numerical and structural chromosomal abnormalities with metaphase cells composed of 45 chromosomes with the loss of one of the homologues of chromosome 21 (monosomy) and a deletion of the long arm of one of the homologues of chromosome 1 [45, XY, -21, del (1) (q?)] and metaphase cells containing 46 chromosomes with a deletion of the long arm of one of the homologues of chromosome 15 [(46, XY, del (15) (q?)]. Currently, the patient is in outpatient treatment for maintenance and control of the disease.CONCLUSIONS: Our study has underlined that karyotyping is one of the fundamental investigations for patients with Alzheimer’s disease. It highlighted, in the form of a chromosomal abnormality, may have been the risk factor in Alzheimer’s disease.

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.

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