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Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive [1] degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. [2] It is one of the most common degenerative cerebral diseases of infancy. [3]
Canavan's disease, Van Bogaert-Bertrand type, Aspartoacylase deficiency: Magnetic resonance imaging scans showing dysmyelination, a possible indicator of Canavan's disease: Specialty: Neurology: Symptoms: Hypotonia, macrocephaly, loss of vision, motor reflex defects, difficulties in breathing and swallowing: Usual onset: 3-6 months of age ...
The plaintiffs in this case were a group of parents of children who had Canavan disease and three non-profit organizations who developed a confidential Canavan disease registry and database. [1] The parents provided their children's tissue for research on the disease and the non-profit groups aided in the identification of other affected ...
Canavan disease is a less-studied type of leukodystrophy that, like MLD and Krabbe disease, is also inherited in an autosomal recessive pattern. It is due to a mutation in the ASPA gene that encodes aspartoacylase , an enzyme needed to metabolize N-acetyl-L-aspartate (NAA).
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Myrtelle May Moore Canavan [1] (June 24, 1879 – August 4, 1953) was an American physician and medical researcher. She was one of the first female pathologists and is best known for publishing a description of Canavan disease in 1931.
The hallmark symptom of LATE is a progressive memory loss that predominantly affects short-term and episodic memory. [1] This impairment is often severe enough to interfere with daily functioning and usually remains the chief neurologic deficit, unlike other types of dementia in which non-memory cognitive domains and behavioral changes might be noted earlier or more prominently. [1]
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.