Global InformationSpongy degeneration of the central nervous system information
| Spongy Degeneration of the Central Nervous System | |
|---|---|
| Other names | Canavan's disease, Van Bogaert-Bertrand type, Aspartoacylase deficiency |
 | |
| Magnetic resonance imaging scans showing dysmyelination, a possible indicator of Canavan's disease | |
| Specialty | Neurology |
| Symptoms | Hypotonia, macrocephaly, loss of vision, motor reflex defects, difficulties in breathing and swallowing |
| Usual onset | 3-6 months of age |
| Duration | Terminal |
| Types | Infantile, congenital, juvenile |
| Causes | Genetic (Autosomal recessive) |
| Risk factors | Family history (genetics) |
| Diagnostic method | Neuroimaging, urine examination |
| Prevention | DNA analysis, prenatal analysis |
| Treatment | Palliative measures only |
| Medication | N/A |
Spongy degeneration of the central nervous system, also known as Canavan's disease, Van Bogaert-Bertrand type or Aspartoacylase (AspA) deficiency, is a rare autosomal recessive neurodegenerative disorder.[1] It belongs to a group of genetic disorders known as leukodystrophies,[1] where the growth and maintenance of myelin sheath in the central nervous system (CNS) are impaired.[2] There are three types of spongy degeneration: infantile, congenital and juvenile, with juvenile being the most severe type.[3] Common symptoms in infants include lack of motor skills, weak muscle tone, and macrocephaly.[4] It may also be accompanied by difficulties in feeding and swallowing, seizures and sleep disturbances.[4] Affected children typically die before the age of 10, but life expectancy can vary.[5]
The cause of spongy degeneration of the CNS is the mutation in a gene coding for aspartoacylase (AspA), an enzyme that hydrolyzes N-acetyl aspartic acid (NAA).[6] In the absence of AspA, NAA accumulates and results in spongy degeneration.[7] The exact pathophysiological causes of the disease are currently unclear, but there are developing theories.[8] Spongy degeneration can be diagnosed with neuroimaging techniques and urine examination.[9] There is no current treatment for spongy degeneration, but research utilising gene therapy to treat the disease is underway.[8] Spongy degeneration is found to be more prevalent among Ashkenazi Jews, with an incidence of 1/6000 amongst this ethnic group.[10]
- ^ a b Baslow MH, Guilfoyle DN (April 2013). "Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions". Biochimie. 95 (4): 946–56. doi:10.1016/j.biochi.2012.10.023. PMID 23151389.
- ^ "Canavan Disease". NORD (National Organization for Rare Disorders). Retrieved 2021-03-31.
- ^ Namboodiri AM, Peethambaran A, Mathew R, Sambhu PA, Hershfield J, Moffett JR, Madhavarao CN (June 2006). "Canavan disease and the role of N-acetylaspartate in myelin synthesis". Molecular and Cellular Endocrinology. 252 (1–2): 216–23. doi:10.1016/j.mce.2006.03.016. PMID 16647192. S2CID 12255670.
- ^ a b Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray PN, Stockley TL (January 2004). "Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay". American Journal of Medical Genetics. Part A. 124A (2): 142–7. doi:10.1002/ajmg.a.20334. PMID 14699612. S2CID 25981659.
- ^ Matalon RM, Michals-Matalon K (March 2000). "Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings". Frontiers in Bioscience. 5: D307-11. doi:10.2741/matalon. PMID 10704428.
- ^ Madhavarao CN, Arun P, Moffett JR, Szucs S, Surendran S, Matalon R, et al. (April 2005). "Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease". Proceedings of the National Academy of Sciences of the United States of America. 102 (14): 5221–6. Bibcode:2005PNAS..102.5221M. doi:10.1073/pnas.0409184102. PMC 555036. PMID 15784740.
- ^ Surendran S, Michals-Matalon K, Quast MJ, Tyring SK, Wei J, Ezell EL, Matalon R (March 2006). "Canavan disease: a monogenic trait with complex genomic interaction". Molecular Genetics and Metabolism. 80 (1–2): 74–80. doi:10.1016/j.ymgme.2003.08.015. PMID 14567959.
- ^ a b Ahmed SS, Gao G (2014). Zschocke J, Baumgartner M, Morava E, Patterson M (eds.). "Making the White Matter Matters: Progress in Understanding Canavan's Disease and Therapeutic Interventions Through Eight Decades". JIMD Reports. 19. Berlin, Heidelberg: Springer Berlin Heidelberg: 11–22. doi:10.1007/8904_2014_356. ISBN 978-3-662-46189-1. PMC 4501231. PMID 25604619.
- ^ Matalon R, Michals K, Kaul R (October 1995). "Canavan disease: from spongy degeneration to molecular analysis". The Journal of Pediatrics. 127 (4): 511–7. doi:10.1016/S0022-3476(95)70105-2. PMID 7562269.
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