1. CANAVAN DISEASE
What is Canavan
Disease
Canavan disease
causes progressive
brain atrophy. There
is no cure, nor is
there a standard
course of treatment.
Treatment is
symptomatic and
supportive.
“Canavan disease is a gene-linked
neurological disorder in which the brain
degenerates into spongy tissue pierced with
microscopic fluid-filled spaces. Canavan
disease has been classified as one of a group
of genetic disorders known as the
leukodystrophies.
In Canavan disease, manyoligodendrocytes
do not mature and instead die, leaving nerve
cell projections known as axons susceptible
and unable to properly function. Canavan
disease is caused by mutation in the gene for
an enzyme called aspartoacylase, which acts
to break down the concentrated brain
chemical known as N-acetyl-aspartate.(2)”
The diagnosis for
Canavan disease is
poor. Death usually
occurs before age 4,
although some
children may survive
into their teens and
twenties.
How is it inherited
BY: JAMES GERACHE
GENERAL BIOLOGY I
MRS. KEES
This condition is inherited in an
autosomal recessive pattern, which
means both copies of the gene in
each cell have mutations. The
parents of an individual with an
autosomal recessive condition each
carry one copy of the mutated
gene, but they characteristically do
not show signs and symptoms of
the condition.
Children that suffer
from Canavan disease
cannot crawl, walk,
sit or talk. Over
time they may suffer
seizures and become
paralyzed. Due to
this fact, these
children are almost
always wheel chair
bond by the age of 2.

2. Resource Page
1. http://www.canavanfoundation.org/about_canavan_disease
2. http://ghr.nlm.nih.gov/condition/canavan-disease
3. http://www.medicinenet.com/canavan_disease/article.htm

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