Canavan Disease (Leukodystrophy, Spongiform)

A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
Also Known As:
Leukodystrophy, Spongiform; Spongy Degeneration of Infancy; Aminoacylase 2 Deficiency; Aspartoacylase Deficiency; Canavan Disease, Familial Form; Canavan Disease, Infantile; Canavan Disease, Juvenile; Canavan Disease, Neonatal; Canavan Disease, Sporadic Form; Canavan Disease, Type I; Canavan Disease, Type II; Canavan Disease, Type III; Canavan-van Bogaert-Bertrand Disease; Deficiency Disease, Aspartoacylase; Familial Form of Canavan Disease; Infantile Canavan Disease; Juvenile Canavan Disease; Neonatal Canavan Disease; Spongy Degeneration of the Central Nervous System; Spongy Disease of Central Nervous System; Spongy Disease of White Matter; Sporadic Form of Canavan Disease; Type I Canavan Disease; Type II Canavan Disease; Type III Canavan Disease; Von Bogaert-Bertrand Disease; Aminoacylase 2 Deficiencies; Aspartoacylase Deficiencies; Aspartoacylase Deficiency Disease; Aspartoacylase Deficiency Diseases; Bogaert-Bertrand Disease, Canavan-van; Bogaert-Bertrand Disease, Von; Canavan van Bogaert Bertrand Disease; Deficiencies, Aminoacylase 2; Deficiencies, Aspartoacylase; Deficiency Diseases, Aspartoacylase; Deficiency, Aminoacylase 2; Deficiency, Aspartoacylase; Disease, Aspartoacylase Deficiency; Disease, Canavan; Disease, Canavan-van Bogaert-Bertrand; Disease, Von Bogaert-Bertrand; Diseases, Aspartoacylase Deficiency; Leukodystrophies, Spongiform; Spongiform Leukodystrophies; Spongiform Leukodystrophy; Von Bogaert Bertrand Disease
Networked: 144 relevant articles (3 outcomes, 8 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Nervous System Diseases (Neurological Disorders)
2. Tremor (Tremors)
3. Canavan Disease (Leukodystrophy, Spongiform)
4. Neurodegenerative Diseases (Neurodegenerative Disease)
5. Mental Retardation (Idiocy)


1. Leone, Paola: 9 articles (05/2014 - 07/2002)
2. Matalon, Reuben: 9 articles (02/2011 - 05/2003)
3. Surendran, Sankar: 7 articles (12/2010 - 05/2003)
4. Viola, Ronald E: 6 articles (11/2014 - 05/2006)
5. Tyring, Stephen K: 6 articles (07/2005 - 05/2003)
6. Francis, Jeremy S: 5 articles (05/2014 - 11/2005)
7. Moffett, John R: 5 articles (01/2013 - 10/2005)
8. Madhavarao, Chikkathur N: 5 articles (06/2010 - 10/2005)
9. Leone, P: 5 articles (09/2006 - 07/2000)
10. Szucs, Sylvia: 4 articles (02/2011 - 08/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Canavan Disease:
1. aspartoacylaseIBA
2. LithiumIBA
3. Thioctic Acid (Lipoic Acid)IBA
4. N-acetylaspartate (N-acetyl aspartate)IBA
5. DNA (Deoxyribonucleic Acid)IBA
6. Biological Markers (Surrogate Marker)IBA
7. Protons (Proton)IBA
8. Prostaglandins D (PGD)IBA
9. Aspartic Acid (Aspartate)FDA Link
10. N-acetyl-1-aspartylglutamic acid (NAAGA)IBA

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Cell Transplantation