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 ?
Paola Leone, the leading American expert on Canavan disease who manages the Cell and Gene Therapy Center (CGTC) at the UMDNJ-Robert Wood Johnson Medical School, which develops innovative treatments for Canavan patients.
Research to identify the disease gene was spearheaded and funded by families (and organizations established by families) affected by Canavan disease.
There is no cure for Canavan disease or a standard course of therapy other than symptomatic and supportive treatment.
Today's geneticists have identified genetic markers for 19 genetic diseases that are more common in the Jewish-Ashkenazi community, including Tay-Sachs and Canavan disease.
I was in shock and in a total state of disbelief when we were given the diagnosis of Canavan Disease at nine months.
HADERA, Israel, January 19 /PRNewswire/ -- Yulia and Gili Ben-Moshe, who live in a small town in Israel, were confronted with every parent's nightmare: their third child, Lavi then three months old, was diagnosed with Canavan Disease.
A typical result of this was that families allowed tissue from children suffering from the fatal Canavan disease to be used for research in the hope of finding a cure.
Called the 'Ambassadors of Hope', these children are representing the 7000 different rare conditions and suffer from diseases including: Ataxia-Telangiectasia, Autosomal Recessive Polycystic Kidney disease, Batten disease, Branchiootorenal Syndrome, Canavan disease, Cystic Fibrosis, Dravet Syndrome, Duchenne Muscular Dystrophy, Fibrous Dysplasia, Joubert Syndrome, Mitochondrial Encephalomyopathy, Niemann Pick Type C, Hutchinson-Gilford Progeria, Spinal Muscular Atrophy, Subcortical Band Heterotopia, Tay-Sachs and Type 2 Gaucher's disease.
We learned that children with Canavan Disease continue to deteriorate, never roll-over, walk, or speak.
Specifically, Tm Bioscience has acquired rights for gene patents associated with: Bloom's Syndrome, Canavan Disease, Familial Dysautonomia, Gaucher Disease and Niemann-Pick Disease.