Canavan disease

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Canavan disease
ICD-9	330.0
OMIM	271900
DiseasesDB	29780
MedlinePlus	001586

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which covers the phospholipid layer of neuron insulating the axon.

Epidemiology

Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently. About 1/40 individuals of Eastern European (Ashkenazi) Jewish ancestry are carriers. Canavan disease is inherited in an autosomal recessive fashion. If both parents are carriers, there is a 25% chance of having an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers.

Cause

Canavan disease is inherited in an autosomal recessive fashion.

Canavan disease is caused by a defective ASPA gene which is responsible for the production of the enzyme aspartoacylase. This enzyme breaks down the concentrated brain molecule N-acetyl aspartate. Decreased aspartoacylase activity prevents the normal breakdown of N-acetyl aspartate, and the lack of breakdown somehow interferes with growth of the myelin sheath of the nerve fibers in the brain. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator, and allows for efficient transmission of nerve impulses.

Symptoms

Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or seizures may also occur.

Treatment

There is no cure for Canavan disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive. The life expectancy of Canavan patients is not known because new treatments have extended their lives beyond earlier projections. Today, Canavan children often survive into their teens and beyond.

Research involving triacetin supplementation in patients with Canavan disease has shown some promising results. Glyceryl Tricetate study Triacetin, which can be enzymatically cleaved to form acetate, enters the brain more readily than the negatively charged acetate.

Prognosis

Death usually occurs before age 4 untreated, although some children may survive into their twenties via newer treatments which have extended life expectancy. There is no known cure.

Current research

A team of researchers headed by Paola Leone are currently at the University of Medicine and Dentistry of New Jersey, in Camden, New Jersey. The brain gene therapy is conducted at Cooper University Hospital. The procedure involves the insertion of six catheters into the brain that deliver a solution containing 600 billion to 900 billion engineered virus particles. The virus, a modified version of AAV, is designed to replace the aspartoacylase enzyme. Children treated with this procedure to date have shown marked improvements, including the growth of myelin with decreased levels of the n-acetyl-aspartate toxin.

See also

• The Myelin Project
• The Stennis Foundation

External links

• Information on the disorder from the National Institute of Neurological Disorder and Stroke
• Cell & Gene Therapy Center at UMDNJ
• Beat Canavan Disease - A web site dedicated to raising funds to save a Canavan baby's life
• Canavan Research Illinois - A public charity devoted to curing Canavan disease
• Canavan Research - A foundation devoted to curing Canavan disease
• Jacob's Cure - A non-profit organization dedicated to raising money for Canavan disease research

Cost Effectiveness of Canavan disease

| group5 = Clinical Trials Involving Canavan disease | list5 = Ongoing Trials on Canavan disease at Clinical Trials.gov • Trial results on Canavan disease • Clinical Trials on Canavan disease at Google

| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Canavan disease | list6 = US National Guidelines Clearinghouse on Canavan disease • NICE Guidance on Canavan disease • NHS PRODIGY Guidance • FDA on Canavan disease • CDC on Canavan disease

| group7 = Textbook Information on Canavan disease | list7 = Books and Textbook Information on Canavan disease

| group8 = Pharmacology Resources on Canavan disease | list8 = AND (Dose)}} Dosing of Canavan disease • AND (drug interactions)}} Drug interactions with Canavan disease • AND (side effects)}} Side effects of Canavan disease • AND (Allergy)}} Allergic reactions to Canavan disease • AND (overdose)}} Overdose information on Canavan disease • AND (carcinogenicity)}} Carcinogenicity information on Canavan disease • AND (pregnancy)}} Canavan disease in pregnancy • AND (pharmacokinetics)}} Pharmacokinetics of Canavan disease •

| group9 = Genetics, Pharmacogenomics, and Proteinomics of Canavan disease | list9 = AND (pharmacogenomics)}} Genetics of Canavan disease • AND (pharmacogenomics)}} Pharmacogenomics of Canavan disease • AND (proteomics)}} Proteomics of Canavan disease

| group10 = Newstories on Canavan disease | list10 = Canavan disease in the news • Be alerted to news on Canavan disease • News trends on Canavan disease</small>

| group11 = Commentary on Canavan disease | list11 = Blogs on Canavan disease

| group12 = Patient Resources on Canavan disease | list12 = Patient resources on Canavan disease • Discussion groups on Canavan disease • Patient Handouts on Canavan disease • Directions to Hospitals Treating Canavan disease • Risk calculators and risk factors for Canavan disease

| group13 = Healthcare Provider Resources on Canavan disease | list13 = Symptoms of Canavan disease • Causes & Risk Factors for Canavan disease • Diagnostic studies for Canavan disease • Treatment of Canavan disease

| group14 = Continuing Medical Education (CME) Programs on Canavan disease | list14 = CME Programs on Canavan disease

| group15 = International Resources on Canavan disease | list15 = Canavan disease en Espanol • Canavan disease en Francais

| group16 = Business Resources on Canavan disease | list16 = Canavan disease in the Marketplace • Patents on Canavan disease

| group17 = Informatics Resources on Canavan disease | list17 = List of terms related to Canavan disease

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