Canavan disease: Difference between revisions
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==Causes== | ==Causes== | ||
* This [[autosomal recessive]] disease is caused by [[mutation]] in [[ASPA]] [[gene]] on [[chromosome 17]] responsible for [[aspartoacylase]] enzyme production. | * This [[autosomal recessive]] disease is caused by [[mutation]] in [[ASPA]] [[gene]] on [[chromosome 17]] responsible for [[aspartoacylase]] enzyme production.<ref name="von JonquieresSpencer2017">{{cite journal|last1=von Jonquieres|first1=Georg|last2=Spencer|first2=Ziggy H. T.|last3=Rowlands|first3=Benjamin D.|last4=Klugmann|first4=Claudia B.|last5=Bongers|first5=Andre|last6=Harasta|first6=Anne E.|last7=Parley|first7=Kristina E.|last8=Cederholm|first8=Jennie|last9=Teahan|first9=Orla|last10=Pickford|first10=Russell|last11=Delerue|first11=Fabien|last12=Ittner|first12=Lars M.|last13=Fröhlich|first13=Dominik|last14=McLean|first14=Catriona A.|last15=Don|first15=Anthony S.|last16=Schneider|first16=Miriam|last17=Housley|first17=Gary D.|last18=Rae|first18=Caroline D.|last19=Klugmann|first19=Matthias|title=Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy|journal=Acta Neuropathologica|volume=135|issue=1|year=2017|pages=95–113|issn=0001-6322|doi=10.1007/s00401-017-1784-9}}</ref> | ||
==Differentiating {{PAGENAME}} from Other Diseases== | ==Differentiating {{PAGENAME}} from Other Diseases== | ||
Revision as of 16:19, 5 August 2020
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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:
For patient information, click here
| Canavan disease | |
| ICD-9 | 330.0 |
|---|---|
| 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.[4]
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.
- ↑ von Jonquieres, Georg; Spencer, Ziggy H. T.; Rowlands, Benjamin D.; Klugmann, Claudia B.; Bongers, Andre; Harasta, Anne E.; Parley, Kristina E.; Cederholm, Jennie; Teahan, Orla; Pickford, Russell; Delerue, Fabien; Ittner, Lars M.; Fröhlich, Dominik; McLean, Catriona A.; Don, Anthony S.; Schneider, Miriam; Housley, Gary D.; Rae, Caroline D.; Klugmann, Matthias (2017). "Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy". Acta Neuropathologica. 135 (1): 95–113. doi:10.1007/s00401-017-1784-9. ISSN 0001-6322.