Canavan Disease

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; ACY2 Deficiency; ASP Deficiency; ASPA Deficiency; 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 Central Nervous System; Spongy Degeneration of White Matter In Infancy; Spongy Degeneration of the Brain; 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; Van Bogaert-Bertrand Syndrome; Von Bogaert-Bertrand Disease; Canavan van Bogaert Bertrand Disease; Disease, Canavan; Disease, Canavan-van Bogaert-Bertrand; Disease, Von Bogaert-Bertrand; Spongiform Leukodystrophy; Syndrome, Van Bogaert-Bertrand; Van Bogaert Bertrand Syndrome; Von Bogaert Bertrand Disease

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Canavan Disease: 214
- Demyelinating Diseases: 9340
  - Hereditary Central Nervous System Demyelinating Diseases
    - Canavan Disease: 214
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Leukoencephalopathies: 1594
      - Hereditary Central Nervous System Demyelinating Diseases
        Canavan Disease: 214
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Hereditary Central Nervous System Demyelinating Diseases
        Canavan Disease: 214
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Canavan Disease: 214
  - Nervous System Heredodegenerative Disorders: 62
    - Canavan Disease: 214
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Canavan Disease: 214
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Canavan Disease: 214

Fernanda Scapin Selected Research

Fernanda Scapin Research Topics

Disease

Drug/Important Bio-Agent (IBA)