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Severe Canavan disease

MedGen UID:
1826002
•Concept ID:
C5575558
•
Disease or Syndrome
Synonyms: Infantile Canavan disease; infantile Canavan disease; Neonatal Canavan disease; neonatal Canavan disease; severe Canavan disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017830
Orphanet: ORPHA314911

Definition

Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere Canavan disease

Professional guidelines

PubMed

Mandibular Measurements at the 20-Week Anatomy Ultrasound as a Prenatal Diagnostic Predictor of Pierre Robin Sequence.
Bruce MK, Islam R, Anstadt EE, Kenkre TS, Pfaff MJ, Canavan T, Goldstein JA
Cleft Palate Craniofac J 2023 Mar;60(3):352-358. Epub 2021 Dec 3 doi: 10.1177/10556656211064771. PMID: 34860601
Impact of a national genetic carrier-screening program for reproductive purposes.
Singer A, Sagi-Dain L
Acta Obstet Gynecol Scand 2020 Jun;99(6):802-808. Epub 2020 Apr 13 doi: 10.1111/aogs.13858. PMID: 32242916
Canavan disease prenatal diagnosis and genetic counseling.
Matalon R, Matalon KM
Obstet Gynecol Clin North Am 2002 Jun;29(2):297-304. doi: 10.1016/s0889-8545(01)00003-1. PMID: 12108830

Recent clinical studies

Etiology

A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.
Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Kay Koenig M, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T, De Vivo D
Epilepsia 2022 Jul;63(7):1748-1760. Epub 2022 May 21 doi: 10.1111/epi.17263. PMID: 35441706Free PMC Article
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Bley A, Denecke J, Kohlschütter A, Schön G, Hischke S, Guder P, Bierhals T, Lau H, Hempel M, Eichler FS
Orphanet J Rare Dis 2021 May 19;16(1):227. doi: 10.1186/s13023-020-01659-3. PMID: 34011350Free PMC Article
Carrier testing for autosomal-recessive disorders.
Vallance H, Ford J
Crit Rev Clin Lab Sci 2003 Aug;40(4):473-97. doi: 10.1080/10408360390247832. PMID: 14582604
Canavan disease prenatal diagnosis and genetic counseling.
Matalon R, Matalon KM
Obstet Gynecol Clin North Am 2002 Jun;29(2):297-304. doi: 10.1016/s0889-8545(01)00003-1. PMID: 12108830
Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.
Matalon RM, Michals-Matalon K
Front Biosci 2000 Mar 1;5:D307-11. doi: 10.2741/matalon. PMID: 10704428

Diagnosis

Mycoplasma pneumoniae-induced rash and mucositis as a syndrome distinct from Stevens-Johnson syndrome and erythema multiforme: a systematic review.
Canavan TN, Mathes EF, Frieden I, Shinkai K
J Am Acad Dermatol 2015 Feb;72(2):239-45. doi: 10.1016/j.jaad.2014.06.026. PMID: 25592340
Canavan disease: clinical features and recent advances in research.
Hoshino H, Kubota M
Pediatr Int 2014 Aug;56(4):477-83. doi: 10.1111/ped.12422. PMID: 24977939
Leukodystrophies with astrocytic dysfunction.
Rodriguez D
Handb Clin Neurol 2013;113:1619-28. doi: 10.1016/B978-0-444-59565-2.00030-7. PMID: 23622383
Canavan disease prenatal diagnosis and genetic counseling.
Matalon R, Matalon KM
Obstet Gynecol Clin North Am 2002 Jun;29(2):297-304. doi: 10.1016/s0889-8545(01)00003-1. PMID: 12108830
Canavan disease: biochemical and molecular studies.
Matalon R, Kaul R, Michals K
J Inherit Metab Dis 1993;16(4):744-52. doi: 10.1007/BF00711906. PMID: 8412017

Therapy

A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.
Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Kay Koenig M, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T, De Vivo D
Epilepsia 2022 Jul;63(7):1748-1760. Epub 2022 May 21 doi: 10.1111/epi.17263. PMID: 35441706Free PMC Article
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP
Mol Ther 2021 Feb 3;29(2):464-488. Epub 2020 Dec 10 doi: 10.1016/j.ymthe.2020.12.007. PMID: 33309881Free PMC Article
Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.
von Jonquieres G, Spencer ZHT, Rowlands BD, Klugmann CB, Bongers A, Harasta AE, Parley KE, Cederholm J, Teahan O, Pickford R, Delerue F, Ittner LM, Fröhlich D, McLean CA, Don AS, Schneider M, Housley GD, Rae CD, Klugmann M
Acta Neuropathol 2018 Jan;135(1):95-113. Epub 2017 Nov 7 doi: 10.1007/s00401-017-1784-9. PMID: 29116375Free PMC Article
Mycoplasma pneumoniae-induced rash and mucositis as a syndrome distinct from Stevens-Johnson syndrome and erythema multiforme: a systematic review.
Canavan TN, Mathes EF, Frieden I, Shinkai K
J Am Acad Dermatol 2015 Feb;72(2):239-45. doi: 10.1016/j.jaad.2014.06.026. PMID: 25592340
Canavan disease: a monogenic trait with complex genomic interaction.
Surendran S, Michals-Matalon K, Quast MJ, Tyring SK, Wei J, Ezell EL, Matalon R
Mol Genet Metab 2003 Sep-Oct;80(1-2):74-80. doi: 10.1016/j.ymgme.2003.08.015. PMID: 14567959

Prognosis

The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Bley A, Denecke J, Kohlschütter A, Schön G, Hischke S, Guder P, Bierhals T, Lau H, Hempel M, Eichler FS
Orphanet J Rare Dis 2021 May 19;16(1):227. doi: 10.1186/s13023-020-01659-3. PMID: 34011350Free PMC Article
Severe retinal degeneration in a patient with Canavan disease.
Benson MD, Plemel DJA, Freund PR, Lewis JR, Sass JO, Bähr L, Gemperle-Britschgi C, Ferreira P, MacDonald IM
Ophthalmic Genet 2021 Feb;42(1):75-78. Epub 2020 Sep 25 doi: 10.1080/13816810.2020.1827441. PMID: 32975148
Atypical clinical and radiological course of a patient with Canavan disease.
Sarret C, Boespflug-Tanguy O, Rodriguez D
Metab Brain Dis 2016 Apr;31(2):475-9. Epub 2015 Nov 19 doi: 10.1007/s11011-015-9767-9. PMID: 26586007
Mycoplasma pneumoniae-induced rash and mucositis as a syndrome distinct from Stevens-Johnson syndrome and erythema multiforme: a systematic review.
Canavan TN, Mathes EF, Frieden I, Shinkai K
J Am Acad Dermatol 2015 Feb;72(2):239-45. doi: 10.1016/j.jaad.2014.06.026. PMID: 25592340
Leukodystrophies with astrocytic dysfunction.
Rodriguez D
Handb Clin Neurol 2013;113:1619-28. doi: 10.1016/B978-0-444-59565-2.00030-7. PMID: 23622383

Clinical prediction guides

Efficacy and Safety of Approximately 3 Years of Continuous Ozanimod in Moderately to Severely Active Ulcerative Colitis: Interim Analysis of the True North Open-label Extension.
Danese S, Panaccione R, Abreu MT, Rubin DT, Ghosh S, Dignass A, Afzali A, Wolf DC, Chiorean MV, Vermeire S, Jain A, Charles L, Lawlor G, Osterman MT, Wu H, Canavan JB, Petersen A, Colombel JF, Regueiro M
J Crohns Colitis 2024 Feb 26;18(2):264-274. doi: 10.1093/ecco-jcc/jjad146. PMID: 37651686Free PMC Article
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.
Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Kay Koenig M, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T, De Vivo D
Epilepsia 2022 Jul;63(7):1748-1760. Epub 2022 May 21 doi: 10.1111/epi.17263. PMID: 35441706Free PMC Article
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Bley A, Denecke J, Kohlschütter A, Schön G, Hischke S, Guder P, Bierhals T, Lau H, Hempel M, Eichler FS
Orphanet J Rare Dis 2021 May 19;16(1):227. doi: 10.1186/s13023-020-01659-3. PMID: 34011350Free PMC Article
Impact of a national genetic carrier-screening program for reproductive purposes.
Singer A, Sagi-Dain L
Acta Obstet Gynecol Scand 2020 Jun;99(6):802-808. Epub 2020 Apr 13 doi: 10.1111/aogs.13858. PMID: 32242916
Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme.
George Priya Doss C, Zayed H
Metab Brain Dis 2017 Dec;32(6):2105-2118. Epub 2017 Sep 6 doi: 10.1007/s11011-017-0090-5. PMID: 28879565

Recent systematic reviews

Mycoplasma pneumoniae-induced rash and mucositis as a syndrome distinct from Stevens-Johnson syndrome and erythema multiforme: a systematic review.
Canavan TN, Mathes EF, Frieden I, Shinkai K
J Am Acad Dermatol 2015 Feb;72(2):239-45. doi: 10.1016/j.jaad.2014.06.026. PMID: 25592340

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