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spongiform leukodystrophy; Canavan's disease; Canavan-van Bogaert-Bertrand spongy degeneration
see NINDS Canavan Disease Information Page
Genetics:
- autosomal recessive leukodystrophy
- associated with defects in ASPA gene
Clinical manifestations:
- atonia of neck muscles
- hyperextension of legs, flexion of arms
- blindness
- severe mental defect
- megalocephaly
- average age of survival = 18 months
Laboratory:
- see ARUP consult [1]
- ASPA gene mutation
Related
aminoacylase-2 (aspartoacylase, ACY-2, ASPA, ACY2, ASP)
General
leukodystrophy
Properties
DEFICIENCY: aminoacylase-2
Database Correlations
OMIM 271900
References
- ARUP Consult: Jewish Genetic Disease
The Physician's Guide to Laboratory Test Selection & Interpretation
- Ashkenazi Jewish Genetic Diseases Carrier Screening Algorithm
https://arupconsult.com/algorithm/jewish-genetic-diseases-carrier-screening-algorithm
- Ashkenazi Jewish Genetic Diseases Panel
https://arupconsult.com/ati/ashkenazi-jewish-genetic-diseases-panel
- National Institute of Neurological Disorders and Stroke (NINDS)
NINDS Canavan Disease Information Page
https://www.ninds.nih.gov/disorders/All-disorders/canavan-disease-information-page