Canavan Disease


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

Canavan-van Bogaert-Bertrand Disease

Deficiency Disease, Aspartoacylase

Disease, Canavan

Disease, Canavan-van Bogaert-Bertrand

Disease, Von Bogaert-Bertrand

Familial Form of Canavan Disease

Infantile Canavan Disease

Juvenile Canavan Disease

Leukodystrophy, Spongiform

Neonatal Canavan Disease

Spongiform Leukodystrophy

Spongy Degeneration Of Central Nervous System

Spongy Degeneration of Infancy

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

Syndrome, Van Bogaert-Bertrand

Type I Canavan Disease

Type II Canavan Disease

Type III Canavan Disease

Van Bogaert Bertrand Syndrome

Van Bogaert-Bertrand Syndrome

Von Bogaert Bertrand Disease

Von Bogaert-Bertrand 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)