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Gm2-gangliosidosis, adult

MedGen UID:: 853856
•Concept ID:: C2874270
•: Disease or Syndrome

Synonym:	GM2-GANGLIOSIDOSIS, ADULT

OMIM®:	606869

Professional guidelines

PubMed

Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.

Mansouri V, Tavasoli AR, Khodarahmi M, Dakkali MS, Daneshfar S, Ashrafi MR, Heidari M, Hosseinpour S, Sharifianjazi F, Bemanalizadeh M
Eur J Neurol 2023 Sep;30(9):2919-2945. Epub 2023 Jun 8 doi: 10.1111/ene.15871. PMID: 37209042

Genetic Carrier Screening in the Twenty-first Century.

Yao R, Goetzinger KR
Clin Lab Med 2016 Jun;36(2):277-88. Epub 2016 Mar 5 doi: 10.1016/j.cll.2016.01.003. PMID: 27235912

GABAergic Pharmacotherapy in the Treatment of Motor Disorders of the Central Nervous System.

Gazulla J, Ruiz-Gazulla C, Tintore M
Curr Pharm Des 2015;21(34):4989-95. doi: 10.2174/1381612821666150914120923. PMID: 26365142

See all (23)

Recent clinical studies

Etiology

Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.

Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, Hennig A, Jones S, Kay R, Lau H, Perlman S, Sharma R, Schneider S, Bremova-Ertl T
Neurology 2023 Mar 7;100(10):e1072-e1083. Epub 2022 Dec 1 doi: 10.1212/WNL.0000000000201660. PMID: 36456200 Free PMC Article

Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.

Rowe OE, Rangaprakash D, Weerasekera A, Godbole N, Haxton E, James PF, Stephen CD, Barry RL, Eichler FS, Ratai EM
Mol Genet Metab 2021 Aug;133(4):386-396. Epub 2021 Jun 24 doi: 10.1016/j.ymgme.2021.06.008. PMID: 34226107 Free PMC Article

Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis.

Stephen CD, Balkwill D, James P, Haxton E, Sassower K, Schmahmann JD, Eichler F, Lewis R
Neurology 2020 Feb 18;94(7):e705-e717. Epub 2020 Jan 21 doi: 10.1212/WNL.0000000000008959. PMID: 31964693 Free PMC Article

The Health Belief Model: a decade later.

Janz NK, Becker MH
Health Educ Q 1984 Spring;11(1):1-47. doi: 10.1177/109019818401100101. PMID: 6392204

Biochemistry and genetics of gangliosidoses.

Sandhoff K, Christomanou H
Hum Genet 1979;50(2):107-43. doi: 10.1007/BF00390234. PMID: 116955

See all (75)

Diagnosis

Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.

Assessment of Emergency Department and Inpatient Use and Costs in Adult and Pediatric Functional Neurological Disorders.

Stephen CD, Fung V, Lungu CI, Espay AJ
JAMA Neurol 2021 Jan 1;78(1):88-101. doi: 10.1001/jamaneurol.2020.3753. PMID: 33104173 Free PMC Article

Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis.

Prenatal Diagnosis of Tay-Sachs Disease.

Zhang J, Chen H, Kornreich R, Yu C
Methods Mol Biol 2019;1885:233-250. doi: 10.1007/978-1-4939-8889-1_16. PMID: 30506202

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT
Pediatrics 2006 Nov;118(5):e1550-62. Epub 2006 Oct 2 doi: 10.1542/peds.2006-0588. PMID: 17015493 Free PMC Article

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Therapy

Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.

Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers.

Peterschmitt MJ, Crawford NPS, Gaemers SJM, Ji AJ, Sharma J, Pham TT
Clin Pharmacol Drug Dev 2021 Jan;10(1):86-98. Epub 2020 Aug 26 doi: 10.1002/cpdd.865. PMID: 32851809 Free PMC Article

The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.

Regier DS, Proia RL, D'Azzo A, Tifft CJ
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1(Suppl 1):663-73. PMID: 27491214 Free PMC Article

Substrate reduction therapy in juvenile GM2 gangliosidosis.

Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT
Mol Genet Metab 2009 Sep-Oct;98(1-2):215-24. Epub 2009 Jun 12 doi: 10.1016/j.ymgme.2009.06.005. PMID: 19595619

The Health Belief Model: a decade later.

Janz NK, Becker MH
Health Educ Q 1984 Spring;11(1):1-47. doi: 10.1177/109019818401100101. PMID: 6392204

See all (34)

Prognosis

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: 32295606 Free PMC Article

Natural History of Adult Patients with GM2 Gangliosidosis.

Masingue M, Dufour L, Lenglet T, Saleille L, Goizet C, Ayrignac X, Ory-Magne F, Barth M, Lamari F, Mandia D, Caillaud C, Nadjar Y
Ann Neurol 2020 Apr;87(4):609-617. Epub 2020 Feb 7 doi: 10.1002/ana.25689. PMID: 31995250

Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.

Lew RM, Burnett L, Proos AL, Barlow-Stewart K, Delatycki MB, Bankier A, Aizenberg H, Field MJ, Berman Y, Fleischer R, Fietz M
J Paediatr Child Health 2015 Mar;51(3):271-9. Epub 2014 Jun 13 doi: 10.1111/jpc.12632. PMID: 24923490

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Myoclonus in neuronal storage and Lafora diseases.

Rapin I
Adv Neurol 1986;43:65-85. PMID: 3080854

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Clinical prediction guides

Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.

Kissell J, Rochmann C, Minini P, Eichler F, Stephen CD, Lau H, Toro C, Johnston JM, Krupnick R, Hamed A, Cox GF
Mol Genet Metab 2024 Jul;142(3):108512. Epub 2024 Jun 6 doi: 10.1016/j.ymgme.2024.108512. PMID: 38870773

Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.

Inhibition of complement in Guillain-Barré syndrome: the ICA-GBS study.

Davidson AI, Halstead SK, Goodfellow JA, Chavada G, Mallik A, Overell J, Lunn MP, McConnachie A, van Doorn P, Willison HJ
J Peripher Nerv Syst 2017 Mar;22(1):4-12. doi: 10.1111/jns.12194. PMID: 27801990

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

Biochemistry and genetics of gangliosidoses.

Sandhoff K, Christomanou H
Hum Genet 1979;50(2):107-43. doi: 10.1007/BF00390234. PMID: 116955

See all (57)