Biomaterial Database

Familial idiocy with spongy degeneration of the central nervous system of van Bogaert--Bertrand type. 1960

G M ZU RHEIN, and P L EICHMAN, and F PULETTI

UI	MeSH Term	Description	Entries
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D002490	Central Nervous System	The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges.	Cerebrospinal Axis,Axi, Cerebrospinal,Axis, Cerebrospinal,Central Nervous Systems,Cerebrospinal Axi,Nervous System, Central,Nervous Systems, Central,Systems, Central Nervous
D002493	Central Nervous System Diseases	Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord.	CNS Disease,Central Nervous System Disease,Central Nervous System Disorder,CNS Diseases,Central Nervous System Disorders
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017825	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)	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,Leukodystrophy, Spongiform,Neonatal Canavan Disease,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,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