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About the disease
Canavan Disease (spongy degeneration of the nervous system)
Canavan is an inherited autosomal recessive disease that causes progressive damage to nerve cells in the brain. This disease appears to be most prevalent among Semitic cultures.
The main symptoms of the Canavan Disease are:
- loss of the previously acquired motor skills
- hypotony with tonic contraction of limbs caused by noise or lifting and deflection of the head aback
- rapidly increasing head circumference (especially between 3-6 month about 3-4 standard deviation)
- blindness with the optic atrophy, between 6 and 18 month
The Canavan Disease lasts for about 1- 3 years, sometimes even 10 years. Head MRI scan shows degeneration of the white matter in brain: hypotensive in T1 and hypertensive in T2. There is a high concentration of N- acetyl-aspartic acid (caused by deficiency of N- aspartoacylase), that exceeds the standard rate two hundred times.
The acid can also gather in the brain and cerebrospinal fluid. It can be found by head MRI scan. The gene for N- aspartoacylase enzyme was identified on chromosome 17p13.
This disease was described by:Canavan, Myrtelle May (1879 - 1953)
American neuropathologist. She studied at the Michigan State College, the University of Michigan and the Women’s Medical College of Pennsylvania. In 1907, she obtained a laboratory post at the Danvers State Hospital, Hawthorne, Massachusetts. From 1910, she worked as a resident pathologist at the Boston State Hospital, and in 1914, she became pathologist to the Massachusetts Department of Mental Disease. In 1924, she became associate professor of neuropathology at Boston University; two years later, she got the post of an instructor in neuropathology at the University of Vermont.
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