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GTR Home > Conditions/Phenotypes > Spongy degeneration of central nervous system

Spongy degeneration of central nervous system

Synonyms
ACY2 deficiency; ASP deficiency; Aminoacylase 2 deficiency; Aspartoacylase deficiency; Canavan disease; Canavan-van Bogaert-Bertrand disease; Spongy degeneration of the central nervous system; Von Bogaert-Bertrand disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Canavan Disease
Canavan disease is a leukodystrophy characterized by neurodevelopmental delays, macrocephaly, and tone abnormalities. The phenotypic spectrum ranges from the more severe typical Canavan disease (85%-90% of individuals) to the less severe atypical Canavan disease (10%-15%). Typical Canavan disease is characterized by neurodevelopmental impairment evident by ages three to five months, followed by neurodegeneration and developmental regression. The clinical course of atypical Canavan disease is more variable, with neurodevelopmental delay usually becoming evident in the first years of life and frequently followed by developmental regression later in childhood or adolescence. All individuals with Canavan disease have reduced life expectancy, with the majority surviving to age ten years and the minority living to adulthood.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Amanda Nagy
Annette E Bley
Florian Eichler
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Available tests

126 tests are in the database for this condition.

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Clinical tests (126 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACY2, ASP, ASPA
    Summary: aspartoacylase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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