Canavan disease

Jump to navigation Jump to search

WikiDoc Resources for Canavan disease


Most recent articles on Canavan disease

Most cited articles on Canavan disease

Review articles on Canavan disease

Articles on Canavan disease in N Eng J Med, Lancet, BMJ


Powerpoint slides on Canavan disease

Images of Canavan disease

Photos of Canavan disease

Podcasts & MP3s on Canavan disease

Videos on Canavan disease

Evidence Based Medicine

Cochrane Collaboration on Canavan disease

Bandolier on Canavan disease

TRIP on Canavan disease

Clinical Trials

Ongoing Trials on Canavan disease at Clinical

Trial results on Canavan disease

Clinical Trials on Canavan disease at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Canavan disease

NICE Guidance on Canavan disease


FDA on Canavan disease

CDC on Canavan disease


Books on Canavan disease


Canavan disease in the news

Be alerted to news on Canavan disease

News trends on Canavan disease


Blogs on Canavan disease


Definitions of Canavan disease

Patient Resources / Community

Patient resources on Canavan disease

Discussion groups on Canavan disease

Patient Handouts on Canavan disease

Directions to Hospitals Treating Canavan disease

Risk calculators and risk factors for Canavan disease

Healthcare Provider Resources

Symptoms of Canavan disease

Causes & Risk Factors for Canavan disease

Diagnostic studies for Canavan disease

Treatment of Canavan disease

Continuing Medical Education (CME)

CME Programs on Canavan disease


Canavan disease en Espanol

Canavan disease en Francais


Canavan disease in the Marketplace

Patents on Canavan disease

Experimental / Informatics

List of terms related to Canavan disease

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: Aspartoacylase Deficiency, Canavan–van Bogaert–Bertrand disease, ASPA Deficiency, Canavan's leukodystrophy

For patient information, click here

Canavan disease
ICD-9 330.0
OMIM 271900
DiseasesDB 29780
MedlinePlus 001586


Canavan disease is a rare autosomal recessive degenerative disease with fatal neurological deficits that begins in infancy and has rapid progression. It is a leukodystrophy with deficiency of enzyme aspartoacylase causing accumulation of N-acetylaspartic acid. It is characterized by abnormal myelination and white matter atrophy.

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.


  • There is no established system for the classification of Canavan disease.
  • Canavan disease is categorized as a leukodystrophy.[2]



Differentiating Canavan disease from Other Diseases

Epidemiology and Demographics

  • The prevalence of Canavan Disease is approximately 1 per 100,000 individuals in general population.[5]
  • Canavan disease usually affects individuals of the Eastern European (Ashkenazi) Jewish ancestry.
  • In Ashkenazi Jews the prevalence of this disease is 1 in 6000-14000 individuals and 1 in 37-57 individuals are carriers among this population.[6]

Risk Factors

  • There are no established risk factors for Canavan disease.[4]
  • It is an autosomal recessive disease.
  • It is more common in the Ashkenazi Jew population.[6]


  • There is insufficient evidence to recommend routine screening for Canavan disease in the general population.
  • Carrier testing is suggested for people of Northern and Central Europe.
  • Prenatal screening is done in high-risk cases.[7]

Natural History, Complications, and Prognosis

  • Patients with Canavan disease may progress to develop life-threatening complications, some patients may develop earlier in the infant stage and some develop later.
  • Common complications of Canavan disease include:
  • Prognosis is generally poor in the most common form of the disease, and patients usually don't survive beyond age ten. Some patients may survive into teens and twenties. Patients with a mild form of the disease have a normal lifespan.


Diagnostic Study of Choice

  • There are no established criteria for the diagnosis of Canavan disease. However, the diagnosis is confirmed by the presence of increased urinary N-acetylaspartic acid and an MRI suggestive of white matter disease in patients presenting with the aforementioned signs and symptoms.[5]

History and Symptoms

  • Most commonly patients present at three to six months of age with lethargy, weak cry, irritability, poor head control, macrocephaly, hypotonia, poor feeding due to dysfunctional swallowing, seizures. The disease have relentless progression and soon is complicated by blindness, spasticity, decerebrate posturing and eventual death.[8]
  • The late-onset variant of the disease has mild and non-specific signs and symptoms including speech delay and motor skill delay. It usually presents after 5 years of age and have normal life expectancy.

Physical Examination

Laboratory Findings


  • There are no ECG findings associated with Canavan disease.


  • There are no x-ray findings associated with Canavan disease.

Echocardiography or Ultrasound

  • There are no echocardiography/ultrasound findings associated with Canavan disease.

CT scan


Imaging Findings

MR spectroscopy is helpful in the diagnosis of Canavan disease. Findings on MR spectroscopy diagnostic of Canavan disease include elevated NAA and NAA:creatine ratio.[10]

Other Diagnostic Studies

  • There are no other diagnostic studies associated with Canavan disease.


Medical Therapy


  • Surgical intervention is not recommended for the management of Canavan disease.

Primary Prevention

  • Effective measures for the primary prevention of Canavan disease include carrier testing and genetic counseling in high-risk individuals/populations.

Secondary Prevention

  • There are no established measures for the secondary prevention of Canavan Disease.


  1. 1.0 1.1 Canavan, Myrtelle M. (1931). "SCHILDER'S ENCEPHALITIS PERIAXIALIS DIFFUSA". Archives of Neurology & Psychiatry. 25 (2): 299. doi:10.1001/archneurpsyc.1931.02230020085005. ISSN 0096-6754.
  2. 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. 3.0 3.1 3.2 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.
  4. 4.0 4.1 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.
  5. 5.0 5.1 5.2 Reddy, Nihaal; Calloni, Sonia F.; Vernon, Hilary J.; Boltshauser, Eugen; Huisman, Thierry A. G. M.; Soares, Bruno P. (2018). "Neuroimaging Findings of Organic Acidemias and Aminoacidopathies". RadioGraphics. 38 (3): 912–931. doi:10.1148/rg.2018170042. ISSN 0271-5333.
  6. 6.0 6.1 Zayed, Hatem (2015). "Canavan disease: An Arab scenario". Gene. 560 (1): 9–14. doi:10.1016/j.gene.2015.02.009. ISSN 0378-1119.
  7. Matalon, Reuben; Matalon, Kimberlee Michals (2002). "Canavan disease". Obstetrics and Gynecology Clinics of North America. 29 (2): 297–304. doi:10.1016/S0889-8545(01)00003-1. ISSN 0889-8545.
  8. Traeger, Eveline C.; Rapin, Isabelle (1998). "The Clinical Course of Canavan Disease". Pediatric Neurology. 18 (3): 207–212. doi:10.1016/S0887-8994(97)00185-9. ISSN 0887-8994.
  9. Gordon N (2001). "Canavan disease: a review of recent developments". Eur J Paediatr Neurol. 5 (2): 65–9. doi:10.1053/ejpn.2001.0467. PMID 11589315.
  10. Reddy N, Calloni SF, Vernon HJ, Boltshauser E, Huisman TAGM, Soares BP (2018). "Neuroimaging Findings of Organic Acidemias and Aminoacidopathies". Radiographics. 38 (3): 912–931. doi:10.1148/rg.2018170042. PMID 29757724.
  11. Hoshino, Hideki; Kubota, Masaya (2014). "Canavan disease: Clinical features and recent advances in research". Pediatrics International. 56 (4): 477–483. doi:10.1111/ped.12422. ISSN 1328-8067.
  12. Nagabhushan Kalburgi S, Khan NN, Gray SJ (2013). "Recent gene therapy advancements for neurological diseases". Discov Med. 15 (81): 111–9. PMC 5554939. PMID 23449113.
  13. Assadi, Mitra; Janson, Christopher; Wang, Dah-Jyuu; Goldfarb, Olga; Suri, Neeti; Bilaniuk, Larissa; Leone, Paola (2010). "Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease". European Journal of Paediatric Neurology. 14 (4): 354–359. doi:10.1016/j.ejpn.2009.11.006. ISSN 1090-3798.
  14. Janson, Christopher; McPhee, Scott; Bilaniuk, Larissa; Haselgrove, John; Testaiuti, Mark; Freese, Andrew; Wang, Dah-Jyuu; Shera, David; Hurh, Peter; Rupin, Joan; Saslow, Elizabeth; Goldfarb, Olga; Goldberg, Michael; Larijani, Ghassem; Sharrar, William; Liouterman, Larisa; Camp, Angelique; Kolodny, Edwin; Samulski, Jude; Leone, Paola (2002). "Gene Therapy of Canavan Disease: AAV-2 Vector for Neurosurgical Delivery of Aspartoacylase Gene (ASPA) to the Human Brain". Human Gene Therapy. 13 (11): 1391–1412. doi:10.1089/104303402760128612. ISSN 1043-0342.
  15. Leone, P.; Shera, D.; McPhee, S. W. J.; Francis, J. S.; Kolodny, E. H.; Bilaniuk, L. T.; Wang, D.-J.; Assadi, M.; Goldfarb, O.; Goldman, H. W.; Freese, A.; Young, D.; During, M. J.; Samulski, R. J.; Janson, C. G. (2012). "Long-Term Follow-Up After Gene Therapy for Canavan Disease". Science Translational Medicine. 4 (165): 165ra163–165ra163. doi:10.1126/scitranslmed.3003454. ISSN 1946-6234.

Template:WH Template:WS