1. Medical Genetics Seminar
II BMS
Faculty of Biomedical Sciences, Technology & Research
Familial Alzheimer’s Disease
2. Medical Genetics Seminar
II BMS
Faculty of Biomedical Sciences, Technology & Research
Introduction
• Classified into two subtypes depending on the age of onset
1. Early onset Alzheimer’s Disease [EOAD]: also called familial AD
- Starts before the age of 65 years, typically in late 40s and early 50s
- Accounts for 1-5% AD patients
- mutation of APP ,PSEN1 and PSEN2 genes
2. Late onset Alzheimer’s Disease [LOAD]: also called sporadic AD
- Starts after the age of 65 years
- Accounts for >95% of cases
- mutations in APOE gene
3. Medical Genetics Seminar
II BMS
Faculty of Biomedical Sciences, Technology & Research
Introduction
# of slides : 1-2
4. Medical Genetics Seminar
II BMS
Faculty of Biomedical Sciences, Technology & Research
Clinical features
● Slow progressive course of loss of cognitive functions:
- memory
- communication skills
- judgement and reasoning
–
● Significant impairment of social and occupational
functioning
- behavioural problems
5. Medical Genetics Seminar
II BMS
Faculty of Biomedical Sciences, Technology & Research
INHERITANCE PATTERN
AD shows the
autosomal dominant
type of inheritance
6. Medical Genetics Seminar
II BMS
Faculty of Biomedical Sciences, Technology & Research
Genetics
a. Amyloid Plaques :
When any of these genes is
altered,fragments called
amyloid beta peptide are
produced in the brain.
These peptide form clumps
in the intercellular space
Disorder can result from mutations in the APP, PSEN1, or
PSEN2 genes.
7. Medical Genetics Seminar
II BMS
Faculty of Biomedical Sciences, Technology & Research
a. Neurofibrillary Tangles :
As the amount of plaques
increases, tau protein is
known to phosphorylate.
It detaches from
microtubules and
aggregate to form
neurofibrillary tangles
9. Medical Genetics Seminar
II BMS
Faculty of Biomedical Sciences, Technology & Research
Sources of Information
1. Neuroscience - Exploring the Brain
2. https://medlineplus.gov/genetics/condition/alzheim
er-disease/
3. The genetics education project
![Medical Genetics Seminar
II BMS
Faculty of Biomedical Sciences, Technology & Research
Introduction
• Classified into two subtypes depending on the age of onset
1. Early onset Alzheimer’s Disease [EOAD]: also called familial AD
- Starts before the age of 65 years, typically in late 40s and early 50s
- Accounts for 1-5% AD patients
- mutation of APP ,PSEN1 and PSEN2 genes
2. Late onset Alzheimer’s Disease [LOAD]: also called sporadic AD
- Starts after the age of 65 years
- Accounts for >95% of cases
- mutations in APOE gene](data:image/gif;base64,R0lGODlhAQABAIAAAAAAAP///yH5BAEAAAAALAAAAAABAAEAAAIBRAA7)