Alexander Disease

Nathan Revadigar
History of Alexander Disease
● Discovered in 1949

● Only about 500 recorded cases ever

● Discovered by W.S. Alexander

What is Alexander Disease?
● Rare disorder of the nervous system
● Involves the destruction of myelin: fatty covering that
insulates nerve fibers
● As myelin deteriorates in patients, nervous system
functions are impaired
● Three forms
○ Infantile
○ Juvenile
○ Adult
 Symptoms

● Progressive symptoms leading to

eventual severe mental
retardation
● spastic quadriparesis
● Assisted feeding becomes
necessary.
● Head circumference enlarges.
How to Diagnose
● Genetic testing on a blood sample can be
used to diagnose most cases of Alexander
Disease.
● A suggestive diagnosis can also be made
from the clinical symptoms
● MRIs often reveal a characteristic pattern.
Cause of Alexander
Disease
● All cases of Alexander Disease
(infantile, juvenile and adult) are
caused by a defect in GFAP gene
● Mutation to one gene- autosomal
dominant
● Doesn’t get passed down
Effects of Alexander Disease
● Accumulation of liquid inside the brain

● Creation of Rosenthal Fibers

● In most cases death occurs

Treatments for Disease
● No viable treatments for the
disease have been found
● Liquid can be drained from brain
but it is only temporary fix
Bioethical Considerations
● Due its rarity, many tests have
not been done
● Using affected baby brains to
find the cause
 Hardy-Weinberg Representation
Spreadsheet link:
https://docs.google.com/spreadsheets/d/1Vo70u1YRUmoWNhEyRGdYguzUsD6vZLhZJ21OxE1
Q3is/edit?usp=sharing

● Because it is not a genetically transmitted disease, I started with a

certain number of individuals infected.
○ These individuals were all dead after the first generation

● Since it is a mutation that ends in death, it did not spread and thus
the population stabilized
Citation
“Alexander Disease.” United Leukodystrophy Foundation, ulf.org/alexander-disease/.

“Alexander Disease - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health,

ghr.nlm.nih.gov/condition/alexander-disease#diagnosis.

“Alexander Disease.” Hunter's Hope, huntershope.org/family-care/leukodystrophies/alexander-disease/.

“Homeostasis & Balance.” Alexander Disease, aboutalexanderdisease.weebly.com/homeostasis--balance.html.

Picture Citations
https://ulf.org/alexander-disease/

https://ghr.nlm.nih.gov/condition/alexander-disease#diagnosis

https://aboutalexanderdisease.weebly.com/homeostasis--balance.html

https://huntershope.org/family-care/leukodystrophies/alexander-disease/