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Tay-Sachs disease, b variant, juvenile form

MedGen UID:
1842854
•Concept ID:
C5679975
•
Disease or Syndrome
Synonyms: GM2 gangliosidosis, B variant, juvenile form; Hexosaminidase A deficiency, juvenile form; hexosaminidase A deficiency, juvenile form; Tay-Sachs disease, B variant, juvenile form
 
Monarch Initiative: MONDO:0017725
Orphanet: ORPHA309185

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTay-Sachs disease, b variant, juvenile form

Professional guidelines

PubMed

Postnatal and prenatal diagnosis of lysosomal storage diseases in the former Soviet Union.
Krasnopolskaya XD, Mirenburg TV, Akhunov VS, Voskoboeva EY
Wien Klin Wochenschr 1997 Feb 14;109(3):74-80. PMID: 9060146
Prenatal diagnosis of GM2-gangliosidosis B1 variant.
Lemos M, Pinto R, Ribeiro G, Ribeiro H, Lopes L, Sá Miranda MC
Prenat Diagn 1995 Jun;15(6):585-8. doi: 10.1002/pd.1970150614. PMID: 7659693

Recent clinical studies

Etiology

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG
Hum Mutat 2005 Sep;26(3):282. doi: 10.1002/humu.9363. PMID: 16088929
Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.
Tanaka A, Hoang LT, Nishi Y, Maniwa S, Oka M, Yamano T
J Hum Genet 2003;48(11):571-4. Epub 2003 Oct 18 doi: 10.1007/s10038-003-0080-9. PMID: 14566483
Postnatal and prenatal diagnosis of lysosomal storage diseases in the former Soviet Union.
Krasnopolskaya XD, Mirenburg TV, Akhunov VS, Voskoboeva EY
Wien Klin Wochenschr 1997 Feb 14;109(3):74-80. PMID: 9060146
Prenatal diagnosis of GM2-gangliosidosis B1 variant.
Lemos M, Pinto R, Ribeiro G, Ribeiro H, Lopes L, Sá Miranda MC
Prenat Diagn 1995 Jun;15(6):585-8. doi: 10.1002/pd.1970150614. PMID: 7659693
The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese.
Hechtman P, Boulay B, Bayleran J, Andermann E
Clin Genet 1989 May;35(5):364-75. doi: 10.1111/j.1399-0004.1989.tb02956.x. PMID: 2527097

Diagnosis

Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux.
Karataş MÇ, Yazıcı H, Bozacı AE, Canda E, Levent E, Uçar SK, Çoker M
Arch Argent Pediatr 2022 Feb;120(1):e25-e28. Epub 2022 Jan 1 doi: 10.5546/aap.2022.eng.e25. PMID: 35068126
Prenatal diagnosis of GM2-gangliosidosis B1 variant.
Lemos M, Pinto R, Ribeiro G, Ribeiro H, Lopes L, Sá Miranda MC
Prenat Diagn 1995 Jun;15(6):585-8. doi: 10.1002/pd.1970150614. PMID: 7659693
Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.
Nardocci N, Bertagnolio B, Rumi V, Angelini L
Mov Disord 1992;7(1):64-7. doi: 10.1002/mds.870070113. PMID: 1532632
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.
Specola N, Vanier MT, Goutières F, Mikol J, Aicardi J
Neurology 1990 Jan;40(1):145-50. doi: 10.1212/wnl.40.1.145. PMID: 2136940
Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population.
Greenberg DA, Kaback MM
Am J Hum Genet 1982 May;34(3):444-51. PMID: 6211091Free PMC Article

Prognosis

Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux.
Karataş MÇ, Yazıcı H, Bozacı AE, Canda E, Levent E, Uçar SK, Çoker M
Arch Argent Pediatr 2022 Feb;120(1):e25-e28. Epub 2022 Jan 1 doi: 10.5546/aap.2022.eng.e25. PMID: 35068126
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.
Paw BH, Moskowitz SM, Uhrhammer N, Wright N, Kaback MM, Neufeld EF
J Biol Chem 1990 Jun 5;265(16):9452-7. PMID: 2140574

Clinical prediction guides

GM2 gangliosidosis variant B1 neuroradiological findings.
Grosso S, Farnetani MA, Berardi R, Margollicci M, Galluzzi P, Vivarelli R, Morgese G, Ballestri P
J Neurol 2003 Jan;250(1):17-21. doi: 10.1007/s00415-003-0925-3. PMID: 12527987

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