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Sandhoff disease, infantile form

MedGen UID:
199669
•Concept ID:
C0751490
•
Disease or Syndrome
Synonym: Sandhoff disease, infantile type
 
Monarch Initiative: MONDO:0017721
OMIM®: 268800; 606873
Orphanet: ORPHA309155

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSandhoff disease, infantile form
Follow this link to review classifications for Sandhoff disease, infantile form in Orphanet.

Professional guidelines

PubMed

Treatment of GM2 Gangliosidosis in Adult Sandhoff Mice Using an Intravenous Self-Complementary Hexosaminidase Vector.
Osmon KJ, Thompson P, Woodley E, Karumuthil-Melethil S, Heindel C, Keimel JG, Kaemmerer WF, Gray SJ, Walia JS
Curr Gene Ther 2022;22(3):262-276. doi: 10.2174/1566523221666210916153051. PMID: 34530708
Prenatal diagnosis of infantile GM 2 gangliosidosis type II (Sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography.
Warner TG, Turner MW, Toone JR, Applegarth D
Prenat Diagn 1986 Nov-Dec;6(6):393-400. doi: 10.1002/pd.1970060602. PMID: 3809110

Recent clinical studies

Etiology

Atypical presentation of late-onset Sandhoff disease: a case report.
Salamon A, Szpisjak L, Zádori D, Lénárt I, Maróti Z, Kalmár T, Brierley CMH, Deegan PB, Klivényi P
Ideggyogy Sz 2021 Nov 30;74(11-12):425-429. doi: 10.18071/isz.74.0425. PMID: 34856081
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.
Lyn N, Pulikottil-Jacob R, Rochmann C, Krupnick R, Gwaltney C, Stephens N, Kissell J, Cox GF, Fischer T, Hamed A
Orphanet J Rare Dis 2020 Apr 15;15(1):92. doi: 10.1186/s13023-020-01354-3. PMID: 32295606Free PMC Article
Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice.
Hooper AWM, Alamilla JF, Venier RE, Gillespie DC, Igdoura SA
Hum Mol Genet 2017 Feb 15;26(4):661-673. doi: 10.1093/hmg/ddw422. PMID: 28007910
Sphingolipid metabolism diseases.
Kolter T, Sandhoff K
Biochim Biophys Acta 2006 Dec;1758(12):2057-79. Epub 2006 Jun 14 doi: 10.1016/j.bbamem.2006.05.027. PMID: 16854371
Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.
Der Kaloustian VM, Khoury MJ, Hallal R, Idriss ZH, Deeb ME, Wakid NW, Haddad FS
Am J Hum Genet 1981 Jan;33(1):85-9. PMID: 7468596Free PMC Article

Diagnosis

Clinical and genetic features of a case with juvenile onset sandhoff disease.
Yin JH, Hu WZ, Huang Y
BMC Neurol 2023 Jun 21;23(1):240. doi: 10.1186/s12883-023-03267-7. PMID: 37344817Free PMC Article
Atypical presentation of late-onset Sandhoff disease: a case report.
Salamon A, Szpisjak L, Zádori D, Lénárt I, Maróti Z, Kalmár T, Brierley CMH, Deegan PB, Klivényi P
Ideggyogy Sz 2021 Nov 30;74(11-12):425-429. doi: 10.18071/isz.74.0425. PMID: 34856081
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.
Alonso-Pérez J, Casasús A, Gimenez-Muñoz Á, Duff J, Rojas-Garcia R, Illa I, Straub V, Töpf A, Díaz-Manera J
Neuromuscul Disord 2021 Aug;31(8):769-772. Epub 2021 May 27 doi: 10.1016/j.nmd.2021.04.011. PMID: 34210542
Development of Specific Fluorogenic Substrates for Human β-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Miura K, Aoyama Y, Natsu Y, Koyama R, Hirano T, Nishio T, Hakamata W
Chem Pharm Bull (Tokyo) 2020;68(6):526-533. doi: 10.1248/cpb.c20-00069. PMID: 32475856
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
Zhang W, Zeng H, Huang Y, Xie T, Zheng J, Zhao X, Sheng H, Liu H, Liu L
Metab Brain Dis 2016 Aug;31(4):861-7. Epub 2016 Mar 28 doi: 10.1007/s11011-016-9819-9. PMID: 27021291

Therapy

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C
Gene 2013 Jan 10;512(2):521-6. Epub 2012 Oct 6 doi: 10.1016/j.gene.2012.09.124. PMID: 23046579
Substrate reduction therapy in the infantile form of Tay-Sachs disease.
Bembi B, Marchetti F, Guerci VI, Ciana G, Addobbati R, Grasso D, Barone R, Cariati R, Fernandez-Guillen L, Butters T, Pittis MG
Neurology 2006 Jan 24;66(2):278-80. doi: 10.1212/01.wnl.0000194225.78917.de. PMID: 16434676
Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.
Drousiotou A, Stylianidou G, Anastasiadou V, Christopoulos G, Mavrikiou E, Georgiou T, Kalakoutis G, Oladimeji A, Hara Y, Suzuki K, Furihata K, Ueno I, Ioannou PA, Fensom AH
Hum Genet 2000 Jul;107(1):12-7. doi: 10.1007/s004390000324. PMID: 10982028
GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay.
Christopher R, Rangaswamy GR, Shetty KT
Indian J Pediatr 1995 Jul-Aug;62(4):479-83. doi: 10.1007/BF02755071. PMID: 10829909
The lysosomal hexosaminidase isozymes.
Mahuran D, Novak A, Lowden JA
Isozymes Curr Top Biol Med Res 1985;12:229-88. PMID: 3886595

Prognosis

Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.
İnci A, Cengiz Ergin FB, Biberoğlu G, Okur İ, Ezgü FS, Tümer L
J Pediatr Endocrinol Metab 2021 Jun 25;34(6):805-812. Epub 2021 Apr 6 doi: 10.1515/jpem-2020-0655. PMID: 33819415
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.
Lyn N, Pulikottil-Jacob R, Rochmann C, Krupnick R, Gwaltney C, Stephens N, Kissell J, Cox GF, Fischer T, Hamed A
Orphanet J Rare Dis 2020 Apr 15;15(1):92. doi: 10.1186/s13023-020-01354-3. PMID: 32295606Free PMC Article
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C
Gene 2013 Jan 10;512(2):521-6. Epub 2012 Oct 6 doi: 10.1016/j.gene.2012.09.124. PMID: 23046579
Glycosphingolipid degradation and animal models of GM2-gangliosidoses.
Kolter T, Sandhoff K
J Inherit Metab Dis 1998 Aug;21(5):548-63. doi: 10.1023/a:1005419122018. PMID: 9728335
An atypical form of Sandhoff's disease. Case report and biochemical studies.
Felding I, Hultberg B
Neuropadiatrie 1978 Feb;9(1):74-83. doi: 10.1055/s-0028-1085411. PMID: 24820

Clinical prediction guides

Atypical presentation of late-onset Sandhoff disease: a case report.
Salamon A, Szpisjak L, Zádori D, Lénárt I, Maróti Z, Kalmár T, Brierley CMH, Deegan PB, Klivényi P
Ideggyogy Sz 2021 Nov 30;74(11-12):425-429. doi: 10.18071/isz.74.0425. PMID: 34856081
Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice.
Hooper AWM, Alamilla JF, Venier RE, Gillespie DC, Igdoura SA
Hum Mol Genet 2017 Feb 15;26(4):661-673. doi: 10.1093/hmg/ddw422. PMID: 28007910
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C
Gene 2013 Jan 10;512(2):521-6. Epub 2012 Oct 6 doi: 10.1016/j.gene.2012.09.124. PMID: 23046579
Substrate reduction therapy in the infantile form of Tay-Sachs disease.
Bembi B, Marchetti F, Guerci VI, Ciana G, Addobbati R, Grasso D, Barone R, Cariati R, Fernandez-Guillen L, Butters T, Pittis MG
Neurology 2006 Jan 24;66(2):278-80. doi: 10.1212/01.wnl.0000194225.78917.de. PMID: 16434676
Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Redonnet-Vernhet I, Mahuran DJ, Salvayre R, Dubas F, Levade T
Biochim Biophys Acta 1996 Nov 15;1317(2):127-33. doi: 10.1016/s0925-4439(96)00044-0. PMID: 8950198

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