a basic outline of alzheimer's disease

1. ALZHEIMER’S
DISEASE
PRESENTED BY:
AVANTHIKA KUMAR
BMS 4TH
YR
(HUMAN GENTICS)

2. A CASE
STUDY

3. • A 69 yr old woman presents
with symptoms of
forgetfulnesss which worsens
over a period of time
• Her family history includes her uncle suffering
from dementia.
• Initial diagnosis was made as loss of
predominantly recent memories .
• After about an year after the initial diagnosis her
symptoms got moderately worse ; finding words
and cooking without supervision got difficult
forher.
• After another year her condition gt even
more worse ; there was disorientation in
her speech ,started showing anxiety

4. • She faced difficulty in
remembering people but was
completely able to identify her
husband
• The doctor suspected Alzheimer’s
disease
• He took MRI, PET scans to
confirm his suspection . In the
scans he could see lesions
pertaining to AD.
• Confirmed that the lady is
suffering from ALZHEIMER’S
DISEASE.

5. INTRODUCTION
• Alzheimer’s disease (AD) is an irreversible,
progressive neurodegenerative disease
that slowly destroys memory and thinking
skills and eventually the ability to carry out
the simplest tasks.
• It is the most common cause of DEMENTIA
among the older adults. ( mostly 60yrs plus)
• DEMENTIA is a condition in which there is
a loss of cognitive function (thinking,
remembering, reasoning an d behavioral
abilities ) to such an extent that it interferes
with a person’s daily life and activities.

6. 8.JPG

7. HISTORY
1906- AD was described by Dr. ALOIS
ALZHEIMER in his patient.
1931- AD was able to be studied under
an electron microscope (which was then
invented by KNOLL & ERNST).
1968- Cognitive measurement scales
were created to allow researcher to
measure the level of impairment.
2003- Genetic studies were done to
identify the risk of genes for the
disease.

8. His patient

9. STAGES OF ALZHEIMER’S
DISEASE AND CLINICAL
SYMPTOMS

10. STAGE OF PROGRESSION OF AD CLINICAL SYMPTOMS OR
MANIFESTATIONS
STAGE 1
( NO IMPAIRMENT)
not detectable and no memory problems or
other symptoms of dementia are evident..
STAGE 2
(VERY MILD DECLINE)
minor memory problems or lose things around
the house, although not to the point where the
memory loss can easily be distinguished from
normal age related memory loss. the disease
is unlikely to be detected by physicians
STAGE 3
(MILD DECLINE)
Difficulty in finding the right word during
conversations
remembering names of new acquaintances
planning and organizing
People with stage three Alzheimer’s may also
frequently lose personal possessions,
including valuables.
STAGE 4
(MODERATE DECLINE )
Have difficulty with simple arithmetic
May forget details about their life histories
Have poor short term memory (may not recall
what they ate for breakfast, for example)

11. STAGE 5
(Moderately
Severe Decline)
patients begin to need help with many day to day activities. People in
stage five of the disease may experience:
Significant confusion
Inability to recall simple details about themselves such as their own
phone number
Difficulty dressing appropriately
STAGE 6
(SEVERE
DECLINE)
• Confusion or unawareness of environment and surroundings
• Major personality changes and potential behavior problems
• The need for assistance with activities of daily living such as
toileting and bathing
• Inability to recognize faces except closest friends and relatives
• Inability to remember most details of personal history
• Loss of bowel and bladder control
• Wandering
STAGE 7
(VERY
SEVERE
DECLINE)
It is the final stage of Alzheimer’s disease. Because Alzheimer’s
disease is a terminal illness, patients in stage seven are nearing
death. In stage seven of the disease, patients lose ability to respond
to their environment or communicate. While they may still be able to
utter words and phrases, they have no insight into their condition and
need assistance with all activities of daily living. In the final stages of
the illness, patients may lose their ability to swallow.

13. WHAT HAPPENS TO THE BRAIN IN
AD ?
o A protein called BETA AMYLOID shows up in
irregular clusters in the brain. This protein
comes from a precursor protein found in fatty
membrane of neurons. These amyloid
fragments stick together and forms a
PLAQUE, which is referred to as SENILE
PLAQUES. These plaques interrupt the
synapses hence normal signal transduction
does not happen.
o These plaques are first developed in the brain
cortex and then reaches to the hippocampus
and finally the whole brain is affected .
NOTE: SENILE PLAQUES ARE NOT
ASSOCIATED WITH AD SYMPTOMS.

14. CONTD..
o In a normal brain protein called TAU is
present which stabilises the
microtubules. In an AD affected brain
the protein stands become tangled, and
are called NEUROFIBRILLARY
TANGLES. Because eof this the brain
system of transporting nutrients to the
nerve cells fail leading to its death.
o These tangles are initially developed in
te hippocampus and then they reach
the whole brain leading to brain
atrophy.
NOTE: THIS IS ASSOCIATED
WITH THE SYMPTOMS OF AD

18. GENETIC ASPECTS
 Occurs between 30-60 yrs.
 It is called as early onset Familial
Alzheimer’s disease.
 It is caused by any one of these
number of different single gene
mutations on chromosome 21,14,1
 Mutation on chrs.21 leads to abnormal
production of APP gene
This mutation causes proteolytic
degradation of the APP which then
starts accumulating leading to SENILE
PLAQUES
 Mutation on chrs.24 leads to abnormal
production of PRESENILIN1 gene
• EARLY ONSET
ALZHEIMER’S
Autosomal
dominant

19. LATE ONSET ALZHEIMERS
DISEASE:
In this the symptoms becomes
evident in mid 60’s or later.
Evident genetic cause or a
mutation is actually not found
but the genetic risk factor is the
presence of APOLIPOPROTEIN
(APOE e 4) GENE ON
CHROMOSOME 19.

20. ASSOCIATION OF ALZHEIMER
WITH DOWN’S SYNDROME
• Many but not all people with Down’s syndrome
tend to develop Alzheimer’s disease when they
get older.
• People affected with Down’s have an extra copy
of chromosome 21, this chromosome carries
the APP gene which produces AMYLOID
PRECURSOR PROTEIN , mutation of this gene
leads to building up of the beta amyloid protein
interrupting normal function of the brain
• By the age of 40 almost all people with Don’s
have the plaques along with deposits of TAU
protein.
• Not everyone having Down’s develop
Alzheimers , more than 50% develop dementia

22. TREATMENT
As such there is no cure for this disease.
But recent research reveals three drugs
designed to treat AD.
Donepzil ( Aricept) ; Galantomine
( Razadyne) ; Rivastugmine ( Exelon)

24. REFERENCES
• http://www.alzheimers.net/stages-of-
alzheimers-disease/
• http://www.stacommunications.com/
customcomm/Back-
issue_pages/AD_Review/adPDFs/m
arch1998/18.pdf
• http://www.webmd.com/alzheimers/g
uide/alzheimers-genetic#1
• https://www.nia.nih.gov/health/alzhei
mers-disease-people-down-
syndrome

25. THANK YOU