Abstract
Spongy degeneration of the brain, Canavan disease, is an autosomal recessive leukodystrophy prevalent among individuals of Ashkenazi Jewish extraction. The disease is characterized by severe mental retardation, developmental delays, and early death. Deficiency of the enzyme aspartoacylase, causes excessive amounts of N-acetylaspartic acid in the urine, brain and body fluids. High levels of N-acetylaspartic acid in the urine are diagnostic for Canavan disease. Mild or juvenile cases of Canavan disease with mild elevation of N-acetylaspartic acid and developmental delay have also been found. The gene for aspartoacylase has been cloned and mutations identified. Ashkenazi Jewish populations have two mutations in 98% of the cases while other ethnic groups have more diverse mutations. A knockout mouse with the same phenotype as Canavan disease has been generated. Trials in knockout mice and Canavan patients are underway for potential treatment for Canavan disease.
| Original language | English (US) |
|---|---|
| Title of host publication | Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition |
| Publisher | Elsevier Inc. |
| Pages | 695-701 |
| Number of pages | 7 |
| ISBN (Print) | 9780124105294, 9780124105492 |
| DOIs | |
| State | Published - Nov 13 2014 |
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Keywords
- Aspartoacylase deficiency
- Canavan Disease
- Leukodystrophy
- Spongy degeneration of the brain
ASJC Scopus subject areas
- Medicine(all)
Cite this
Canavan Disease. / Matalon, Reuben; Matalon, Kimberlee Michals.
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., 2014. p. 695-701.Research output: Chapter in Book/Report/Conference proceeding › Chapter
}
TY - CHAP
T1 - Canavan Disease
AU - Matalon, Reuben
AU - Matalon, Kimberlee Michals
PY - 2014/11/13
Y1 - 2014/11/13
N2 - Spongy degeneration of the brain, Canavan disease, is an autosomal recessive leukodystrophy prevalent among individuals of Ashkenazi Jewish extraction. The disease is characterized by severe mental retardation, developmental delays, and early death. Deficiency of the enzyme aspartoacylase, causes excessive amounts of N-acetylaspartic acid in the urine, brain and body fluids. High levels of N-acetylaspartic acid in the urine are diagnostic for Canavan disease. Mild or juvenile cases of Canavan disease with mild elevation of N-acetylaspartic acid and developmental delay have also been found. The gene for aspartoacylase has been cloned and mutations identified. Ashkenazi Jewish populations have two mutations in 98% of the cases while other ethnic groups have more diverse mutations. A knockout mouse with the same phenotype as Canavan disease has been generated. Trials in knockout mice and Canavan patients are underway for potential treatment for Canavan disease.
AB - Spongy degeneration of the brain, Canavan disease, is an autosomal recessive leukodystrophy prevalent among individuals of Ashkenazi Jewish extraction. The disease is characterized by severe mental retardation, developmental delays, and early death. Deficiency of the enzyme aspartoacylase, causes excessive amounts of N-acetylaspartic acid in the urine, brain and body fluids. High levels of N-acetylaspartic acid in the urine are diagnostic for Canavan disease. Mild or juvenile cases of Canavan disease with mild elevation of N-acetylaspartic acid and developmental delay have also been found. The gene for aspartoacylase has been cloned and mutations identified. Ashkenazi Jewish populations have two mutations in 98% of the cases while other ethnic groups have more diverse mutations. A knockout mouse with the same phenotype as Canavan disease has been generated. Trials in knockout mice and Canavan patients are underway for potential treatment for Canavan disease.
KW - Aspartoacylase deficiency
KW - Canavan Disease
KW - Leukodystrophy
KW - Spongy degeneration of the brain
UR - http://www.scopus.com/inward/record.url?scp=84943303182&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84943303182&partnerID=8YFLogxK
U2 - 10.1016/B978-0-12-410529-4.00062-0
DO - 10.1016/B978-0-12-410529-4.00062-0
M3 - Chapter
AN - SCOPUS:84943303182
SN - 9780124105294
SN - 9780124105492
SP - 695
EP - 701
BT - Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition
PB - Elsevier Inc.
ER -