TY - JOUR
T1 - Canavan disease
T2 - From spongy degeneration to molecular analysis
AU - Matalon, Reuben
AU - Michals, Kimberlee
AU - Kaul, Rajinder
N1 - Funding Information:
Supported by the United Leukodystrophy Foundation and the Canavan Foundation.
Copyright:
Copyright 2014 Elsevier B.V., All rights reserved.
PY - 1995/10
Y1 - 1995/10
N2 - 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.
AB - 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.
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U2 - 10.1016/S0022-3476(95)70105-2
DO - 10.1016/S0022-3476(95)70105-2
M3 - Article
C2 - 7562269
AN - SCOPUS:0028842858
SN - 0022-3476
VL - 127
SP - 511
EP - 517
JO - The Journal of Pediatrics
JF - The Journal of Pediatrics
IS - 4
ER -