Canavan disease


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Related to Canavan disease: Alexander disease

Canavan disease

 [kan´ah-van]
a rare autosomal recessive form of leukodystrophy, found especially in people of Ashkenazi Jewish descent, although it has also been seen in other ethnic groups. Characteristics include early onset, widespread demyelination and vacuolation of the cerebral white matter that gives it a spongy appearance, severe mental retardation, an enlarged head, atony of neck muscles, spasticity of arms and legs, and blindness. Death may occur as early as 18 months of age; in those who survive, there may be seizures, muscle weakness, stiffness, and feeding problems. Called also spongy degeneration of central nervous system.

Can·a·van dis·ease

(kan'ă-van), [MIM*271900]
progressive degenerative disease of infancy; mostly affecting Ashkenazi Jewish babies; onset typically within the first 3-4 months of birth; characterized by megalencephaly, optic atrophy, blindness, psychomotor regression, hypotonia, and spasticity; there is increased urinary excretion of N-acetylaspartic acid. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles; pathologically, there are increased brain volume and weight and spongy degeneration in the subcortical white matter. Autosomal recessive inheritance, caused by mutation in the aspartoacyclase A gene (ASPA) on chromosome 17p in Jewish and non-Jewish affected people.
See also: leukodystrophy.

Canavan disease

(kăn′ə-văn′, -vən)
n.
An inherited form of leukodystrophy characterized by small, fluid-filled spaces in the brain, giving it a spongelike appearance, and resulting in progressive paralysis, blindness, megalencephaly, and usually death in infancy or childhood.

Canavan disease

Spongy degeneration of CNS An early onset AR condition caused by a defect or deficiency of aspartoacylase resulting in accumulation of N-acetylaspartic acid in brain, primarily in Jews Clinical Atonia of neck muscles, hyperextension of legs, flexion of arms, blindness, severe mental retardation, megacephaly, death by 18 months Management Nada; CD is a candidate for gene transfer therapy. See Lorenzo's Oil.

Can·a·van dis·ease

(kan'ă-van di-zēz')
Progressive degenerative disease of infancy; mostly affecting Ashkenazi Jewish babies; onset typically within the first 3-4 months of birth; characterized by megalencephaly, optic atrophy, blindness, psychomotor regression, hypotonia, and spasticity; increased urinary excretion of N-acetylaspartic acid occurs. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles; pathologically, there is increased brain volume and weight, spongy degeneration, as well as in the subcortical white matter. Autosomal recessive inheritance, caused by mutation in the aspartoacyclase A gene (ASPA) on chromosome 17p in afflicted Jewish and Gentile people.
See also: leukodystrophy

Canavan,

Myrtelle M., U.S. pathologist, 1879-1953.
Canavan disease - autosomal recessive degenerative disease of infancy. Synonym(s): Canavan sclerosis; Canavan-van Bogaert-Bertrand disease; spongy degeneration of infancy
Canavan sclerosis - Synonym(s): Canavan disease
Canavan-van Bogaert-Bertrand disease - Synonym(s): Canavan disease
References in periodicals archive ?
The report reviews key players involved Canavan Disease therapeutics and enlists all their major and minor projects
The report assesses Canavan Disease therapeutics based on drug target, mechanism of action (MoA), route of administration (RoA) and molecule type
Matalon and the Miami Children's Hospital, secretly obtained a patent (United States Patent 5,679,635, "Aspartocylase Gene, Protein and Methods of Screening Formulations Associated With Canavan Disease") for the Canavan disease gene they discovered using the genetic information and financial resources provided by the Canavan families and began to charge royalties and limit the availability of Canavan testing.
In the lawsuit, the Canavan families and organizations seek injunctive relief to prevent Miami Children's Hospital from restricting access to prenatal and carder testing for Canavan disease and from impeding research on finding a cure or therapies for Canavan disease through enforcement of its patent.
Canavan Disease, a genetic disease more prevalent in people of Ashkenazi Jewish descent, is a degenerative neurological disease of the white matter of the brain.
Over time, Jonathan and Amy were instrumental in furthering medical research, as it was their blood, urine, and skin samples which enabled researchers to discover the missing enzyme in Canavan Disease.
For more information on Canavan Disease, please visit www.
The American authorities have granted permission for a group of nine children with Canavan disease to be treated.
Canavan Disease: Canavan disease is a fatal neurological disorder that belongs to a group of genetic disorders called leukodystrophies, characterized by the abnormal development or degeneration of myelin.
is a national campaign promoting genetic testing for the following diseases: Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia type c, Gaucher Disease, Glycogen, Mucolipidosis IV, Type A Niemann-Pick Disease, and Tay-Sachs Disease.
The expanded panel tests for nine autosomal recessive diseases and consists of Bloom syndrome, Canavan disease, Cystic fibrosis, Familial dysautonomia, Fanconi anemia, Glycogen, Niemann-Pick disease type A, and Tay-Sachs disease.
Canavan disease is a progressive degenerative disorder of the brain and nervous system.