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 is the phospholipid layer covering that insulates nerve fibers. The International Statistical Classification of Diseases and Related Health Problems (commonly known by the abbreviation ICD) is a detailed description of known diseases and injuries. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... Neurons (also called nerve cells) are the primary cells of the nervous system. ... In animals, the brain, or encephalon (Greek for in the head), is the control center of the central nervous system. ... Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. ... In neuroscience, myelin is an electrically insulating phospholipid layer that surrounds the axons of many neurons. ... Two schematic representations of a phospholipid. ...

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, about 1:10,000. Canavan disease is inherited in an autosomal recessive fashion. If both parents are carriers, there is a 25% chance to have an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers. Eastern Europe is the eastern region of Europe variably defined. ... This article describes some ethnic, historic, and cultural aspects of the Jewish identity; for a consideration of the Jewish religion, refer to the article Judaism. ... Eastern Europe is the eastern region of Europe variably defined. ... Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim (אַשְׁכֲּנָזִי אַשְׁכֲּנָזִים Standard Hebrew, Aškanazi,Aškanazim, Tiberian Hebrew, ʾAškănāzî, ʾAškănāzîm, pronounced sing. ... This article describes some ethnic, historic, and cultural aspects of the Jewish identity; for a consideration of the Jewish religion, refer to the article Judaism. ... Genetic counseling generally refers to prenatal counseling done when a genetic condition is suspected in a pregnancy. ... Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ...

Cause

Canavan disease is inherited in an autosomal recessive fashion.

Canavan disease is caused by a defective ASPA gene, responsible for the production of the enzyme aspartoacylase. This enzyme breaks down the N-acetyl aspartate acid, which is a toxin. With decreased levels of aspartoacylase comes an increase in N-acetyl aspartate, which 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. Diagram showing how recessive genes are transmitted and expressed. ... Diagram showing how recessive genes are transmitted and expressed. ... Aspartoacylase is a hydrolase enzyme which breaks down N-acetyl aspartate. ... Ribbon diagram of the enzyme TIM, surrounded by the space-filling model of the protein. ... Aspartoacylase is a hydrolase enzyme which breaks down N-acetyl aspartate. ... N-Acetyl aspartate (NAA) is a derivative of aspartic acid with a formula of C6H9NO5 and a molecular weight of 175. ... In neuroscience, myelin is an electrically insulating phospholipid layer that surrounds the axons of many neurons. ... An axon, or nerve fiber, is a long slender projection of a nerve cell, or neuron, which conducts electrical impulses away from the neurons cell body or soma. ... For other uses, see Fat (disambiguation). ... // Definition An Insulator is a material or object which resists the flow of electric charge. ... Nerves (yellow) Nerves redirects here. ...

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. A human infant Infant is a formal term for the word baby, the youngest category of a child. ... Mental retardation (also called mental handicap[1] and, as defined by the UK Mental Health Act 1983, mental impairment and severe mental impairment[2]) is a term for a pattern of persistently slow learning of basic motor and language skills (milestones) during childhood, and a significantly below-normal global intellectual... A motor skill is a skill that regards the ability of an organism to utilise skeletal muscles effectively. ... A top-down view of skeletal muscle Muscle (from Latin musculus little mouse, referring to muscles like the biceps which pop up as though a mouse were scurrying about under the skin [1]) is contractile tissue of the body and is derived from the mesodermal layer of embryonic germ cells. ... In medicine, megalocephaly is a birth defect that causes an abonormally large head. ... Paralysis is the complete loss of muscle function for one or more muscle groups. ... Blindness is the condition of lacking visual perception due to physiological or psychological factors. ... This article is about the medical term, epileptic seizure, as distinct from psychogenic non-epileptic seizure. ...

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. Until recently, there was absolutely no hope for Canavan children. A separate article is about the punk band called The Adolescents. ...

Research involving triacetin supplementation in patients with Canavan disease has shown some promising results.^{[citation needed]} Triacetin, which can be enzymatically cleaved to form acetate, enters the brain more readily than the negatively charged acetate. The triglyceride 1,2,3-triacetoxypropane is more generally known as triacetin and glycerin triacetate. ... Acetate, or ethanoate, is the anion of a salt or ester of acetic acid. ...

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Prognosis

Death usually occurs before age 4, although some children may survive into their twenties.

Current research

Paola Leone, Ph.D. and her team are the only researchers in the entire world working directly with Canavan children. Dr. Leone and her team have pioneered a brain gene therapy to halt the progression of the disease. Their research offers a glimpse at treating and eventually eradicating similar degenerative diseases of the brain, such as Parkinson's disease, Alzheimer's disease, Lou Gehrig's disease (ALS), and Multiple Sclerosis. Paola Leone, Ph. ... Doctor of Philosophy (Ph. ... Motor neurone disease (MND) is a term used to cover a number of illnesses of the motor neurone: amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), progressive bulbar palsy (PBP) and progressive lateral sclerosis (PLS). ...

Dr. Leone and her team 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. The University of Medicine and Dentistry of New Jersey, an umbrella designation used to refer to one of eight New Jersey state institutions of higher education in medicine. ... Map Political Statistics County Camden County Mayor Gwendolyn Faison Geographic Statistics Area  - Total  - Land  - Water 26. ... Cooper University Hospital is a provider of comprehensive health services, medical education and clinical research in southern New Jersey and the Delaware Valley. ... Catheter disassembled In medicine, a catheter is a tube that can be inserted into a body cavity duct or vessel. ... Groups I: dsDNA viruses II: ssDNA viruses III: dsRNA viruses IV: (+)ssRNA viruses V: (-)ssRNA viruses VI: ssRNA-RT viruses VII: dsDNA-RT viruses A virus (Latin, poison) is a microscopic particle that can infect the cells of a biological organism. ... Adeno associated virus is a virus associated with Adenovirus. ...

An earlier version of this article was based on material from http://www.ninds.nih.gov/health_and_medical/disorders/canavn_doc.htm

Wikipedia links

• The Myelin Project

The Myelin Project is a medical project intended to re-generate the nerves myelin sheath, — a process called remyelination — destroyed in a host of diseases such as multiple sclerosis and the leukodystrophies. ...

External links

• Canavan disease - Geneva Foundation for Medical Education and Research
• 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
• General Summary of the Canavan Disease