Transcript Alzheimer’s Disease (AD)

Alzheimer’s
Disease (AD)
By Jenny Piciw
Characteristics
•Adult on-set dementia
•Memory loss
•Confusion
•Poor judgment
•Decrease in communication
•Agitation
•Hallucinations
•Seizures
Factors
•Head Trauma
•Heart-head connection
•Management of other health conditions
•Healthy Aging
Link with Genetics
Risk Genes
• Increase probability
• Not a direct cause of AD
• APOE-e4
Deterministic Genes
• Direct cause of AD
• Inheritance  AD
• Autosomal Dominant
Alzheimer’s Disease
(ADAD)
• Early onset  typically
between 30-60
• No widespread cause
• APP
• PS-1
• PS-2
Genetic Trends of ADAD
•Affected individuals 
affected parents
• Siblings  50% chance
of also inheriting
•Occasionally identified
in second degree
relative
•Could also be caused
by de nova mutation
• Siblings  chances of
inheriting are small
APOE-e4  Apolipoprotein E-e4
• 1993  first discovered  greatest
impact
• Mutant form of APOE
• Normal combines lipids to form
lipoproteins
•
•
•
•
1 copy  slightly increased risk
2 copies  higher risk
Factor of 20-25% of cases
Earlier onset
Amyloid Precursor Protein (APP)
•1987
•50+ mutations ADAD
•Lead to increased amyloid β peptide 
amyloid plaques
•Type 1 (early onset)
•10-15% of ADAD cases
Presenilin-1 (PS-1)
•1992
• Normal  development of
brain+ spinal cord  activates
genes  cell growth and
maturation
•150+ mutations  amyloid
plaques  kills neurons
•30-70% of cases of ADAD
Presenilin-2 (PS-2)
•1993
•Normal processes proteins 
chemical signals from cell
membrane to nucleus
•11+ mutations  disrupt APP
processing
•˂ 5% of cases of ADAD
•95% penetrance
Diagnosis
• Biomarkers  can accurately determine the presence or absence of a
disease
• Brain Imaging  MRI or PET
• Proteins present in the fluid around the brain
• Current methods :
Treatment
•Do not cure AD
•Help with cognitive and behavioral
symptoms
•Cholinesterase Inhibitors
•Mematine
•Vitamin E
Things you should remember:
• AD is a disease that impairs cognitive
function
• Genetic factors can put one at risk or can
be deterministic
• One can be at increased risk if they have
the following:
•
•
•
•
•
Brain trauma
Heart Attack
Uncontrolled diabetes
Are generally not healthy
Carry one or more copies of the APOE-e4
gene
• If a person carries a mutation in any of the
following it will lead to AD
• APP
• PS-1
• PS-2
Works Cited
•
Works Cited
•
"10 Million Baby Boomers Face Alzheimer's Epidemic." Mercola.com. N.p., n.d. Web. 02 Dec. 2013.
•
"Alzheimer's & Dementia Risk Factors | Alzheimer's Association." Alzheimer's & Dementia Risk Factors | Alzheimer's Association. N.p., n.d. Web. 02
Dec. 2013.
•
"Alzheimers Lebanon » Risk Factors." Alzheimers Lebanon RSS. N.p., n.d. Web. 02 Dec. 2013.Used for picture
•
"APOE." Gentic Home Reference. N.p., 25 Nov. 2013. Web. 2 Dec. 2013.
•
"Ask Questions." Alzheimer's Symptoms Aided by Nasal Spray. N.p., n.d. Web. 02 Dec. 2013.
•
Bird, Thomas D. "Early-Onset Familial Alzheimer Disease." Early-Onset Familial Alzheimer Disease. U.S. National Library of Medicine, 18 Oct.
2012. Web. 02 Dec. 2013.
•
"Clinical Criteria for Alzheimer's Diagnosis | Research Center | Alzheimer's Association." Alzheimer's Association. N.p., n.d. Web. 02 Dec. 2013.
•
"Dementia Diagnosis." & Diagnostic Testing. N.p., n.d. Web. 02 Dec. 2013.
•
"File:Autosomal Dominant Pedigree Chart.svg." - Wikimedia Commons. N.p., n.d. Web. 02 Dec. 2013.Used for picture
•
"File:Diagram of the Human Heart (cropped).svg." - Wikimedia Commons. N.p., n.d. Web. 02 Dec. 2013.Used for picture
•
"Genetic Test Shows Risk of Cognitive Impairment Rather than Alzheimer's." Mempowered. N.p., n.d. Web. 02 Dec. 2013.
•
"Healthy Brain Versus Alzheimer's Brain | Alzheimer's Association." Healthy Brain Versus Alzheimer's Brain | Alzheimer's Association. N.p., n.d.
Web. 30 Nov. 2013.
•
"Latest Medication for Memory Loss | Alzheimer's Association." Latest Medication for Memory Loss | Alzheimer's Association. N.p., n.d. Web. 30
Nov. 2013.
•
"PSEN1." - Presenilin 1. N.p., n.d. Web. 01 Dec. 2013.
•
"PSEN2." - Presenilin 2 (Alzheimer Disease 4). N.p., n.d. Web. 02 Dec. 2013.
•
"Traumatic Brain Injury Resource Websites." Traumatic Brain Injury Resource Websites. N.p., n.d. Web. 02 Dec. 2013.
•
"Younger/Early Onset | Alzheimer's Association." Younger/Early Onset | Alzheimer's Association. N.p., n.d. Web. 02 Dec. 2013.