Canavan disease

From spongy degeneration to molecular analysis

Reuben Matalon, Kimberlee Michals, Rajinder Kaul

Research output: Contribution to journalArticle

96 Citations (Scopus)

Abstract

Establishing the basic defect in Canavan disease hasled to reliable biochemical methods for the diagnosis of this disease. The isolation of the gene and identification of mutations causing Canavan disease have led to the possibility of using DNA methods for the diagnosis of Canavan disease and for carrier detection. A surprising finding is the high carrier frequency of this gene defect among Ashkenazi Jewish people. Analysis for two mutations leads to the identification of 97% of Jewish patients with Canavan disease, and screening of Ashkenazi Jews is possible. N-Acetylaspartic acid has been considered to be an inert compound. The pathophysiology of Canavan disease links lack of NAA hydrolysis to a severe, debilitating white matter disease. Currently, NAA is being studied in many other brain disorders, such as Alzheimer disease, Huntington disease, and stroke. However, the only disease with a specific defect in the metabolism of NAA is Canavan disease. An animal model for Canavan disease is needed to study some of the questions regarding the role of NAA in brain tissue, and for the study of therapeutic modalities, including gene therapy.

Original languageEnglish (US)
Pages (from-to)511-517
Number of pages7
JournalThe Journal of pediatrics
Volume127
Issue number4
DOIs
StatePublished - 1995
Externally publishedYes

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Canavan Disease
Leukoencephalopathies
Jews
Mutation
Huntington Disease
Brain Diseases
Gene Frequency
Genetic Therapy
Alzheimer Disease
Hydrolysis
Animal Models
Stroke

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Canavan disease : From spongy degeneration to molecular analysis. / Matalon, Reuben; Michals, Kimberlee; Kaul, Rajinder.

In: The Journal of pediatrics, Vol. 127, No. 4, 1995, p. 511-517.

Research output: Contribution to journalArticle

Matalon, Reuben ; Michals, Kimberlee ; Kaul, Rajinder. / Canavan disease : From spongy degeneration to molecular analysis. In: The Journal of pediatrics. 1995 ; Vol. 127, No. 4. pp. 511-517.
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