Canavan disease
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Zehra Malik, M.B.B.S[2]
Synonyms and keywords:
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| Canavan disease | |
| ICD-9 | 330.0 |
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| OMIM | 271900 |
| DiseasesDB | 29780 |
| MedlinePlus | 001586 |
Overview
Historical Perspective
- Canavan disease was first described in 1931 by an American neuropathologist, Myrtelle Canavan.[1]
- She wrote a case-study in 1931 of a child who died at sixteen-month of age and was found to have cerebral spongy degenerative changes of the central nervous system.[1]
- The disease was later named after Myrtelle Canavan.
Classification
- There is no established system for the classification of Canavan disease.
- Canavan disease is categorized as a leukodystrophy.[2]
Pathophysiology
- Canavan disease is a rare inherited disorder following an autosomal recessive pattern of inheritance. [3]
- It is caused by a deficiency of enzyme aspartoacylase.
- Aspartoacylase is responsible for breakdown of N-acetyl aspartate (NAA) into aspartic acid and acetate.
- Decreased level of aspartoacylase results in accumulation of N-acetyl aspartate (NAA) in the brain causing abnormal myelination and progressive cerebral spongy degeneration.[3]
Causes
- This autosomal recessive disease is caused by mutation in ASPA gene on chromosome 17 responsible for aspartoacylase enzyme production.
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography or Ultrasound
CT scan
MRI
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
See also
External links
- Information on the disorder from the National Institute of Neurological Disorder and Stroke
- Cell & Gene Therapy Center at UMDNJ
- Beat Canavan Disease - A web site dedicated to raising funds to save a Canavan baby's life
- Canavan Research Illinois - A public charity devoted to curing Canavan disease
- Canavan Research - A foundation devoted to curing Canavan disease
- Jacob's Cure - A non-profit organization dedicated to raising money for Canavan disease research
References
- ↑ Froukh, Tawfiq (2019). "First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan". BioMed Research International. 2019: 1–7. doi:10.1155/2019/7235914. ISSN 2314-6133.
- ↑ 3.0 3.1 Matalon, R.; Michals, K.; Sebesta, D.; Deanching, M.; Gashkoff, P.; Casanova, J.; Optiz, John M.; Reynolds, James F. (1988). "Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease". American Journal of Medical Genetics. 29 (2): 463–471. doi:10.1002/ajmg.1320290234. ISSN 0148-7299.