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GM2 gangliosidosis

MedGen UID:
78656
•Concept ID:
C0268274
•
Disease or Syndrome
Synonyms: G(M2) Gangliosidoses; Gangliosidose, GM2; Gangliosidoses GM2; Gangliosidoses, GM2; Gangliosidosis, GM2; GM2 Gangliosidose; GM2 Gangliosidoses; GM2 Gangliosidosis; GM2, Gangliosidoses
SNOMED CT: GM2 gangliosidosis (33316007); Deficiency of beta-N-acetylhexosaminidase isoenzymes (33316007)
 
Monarch Initiative: MONDO:0017720
Orphanet: ORPHA309152

Definition

A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. [from MONDO]

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
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 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

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
Gene Therapy of Sphingolipid Metabolic Disorders.
Shaimardanova AA, Solovyeva VV, Issa SS, Rizvanov AA
Int J Mol Sci 2023 Feb 11;24(4) doi: 10.3390/ijms24043627. PMID: 36835039Free 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: 34226107Free 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: 31964693Free PMC Article
Gangliosidoses.
Patterson MC
Handb Clin Neurol 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. PMID: 23622392

Diagnosis

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
Rare Diseases in Glycosphingolipid Metabolism.
Zhou H, Wu Z, Wang Y, Wu Q, Hu M, Ma S, Zhou M, Sun Y, Yu B, Ye J, Jiang W, Fu Z, Gong Y
Adv Exp Med Biol 2022;1372:189-213. doi: 10.1007/978-981-19-0394-6_13. PMID: 35503182
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: 31964693Free PMC Article
The neuropsychiatry of inborn errors of metabolism.
Walterfang M, Bonnot O, Mocellin R, Velakoulis D
J Inherit Metab Dis 2013 Jul;36(4):687-702. Epub 2013 May 23 doi: 10.1007/s10545-013-9618-y. PMID: 23700255
Gangliosidoses.
Patterson MC
Handb Clin Neurol 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. PMID: 23622392

Therapy

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
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: 36456200Free 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: 27491214Free PMC Article
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
Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.
Chiricozzi E, Niemir N, Aureli M, Magini A, Loberto N, Prinetti A, Bassi R, Polchi A, Emiliani C, Caillaud C, Sonnino S
Mol Neurobiol 2014 Aug;50(1):159-67. Epub 2013 Dec 20 doi: 10.1007/s12035-013-8605-5. PMID: 24356898

Prognosis

GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B, Dauriat B, Richard L, Lamari F, Ghorab K, Magy L, Benkirane M, Perani A, Marquet V, Calvas P, Yardin C, Bourthoumieu S
Neurol Sci 2022 Nov;43(11):6517-6527. Epub 2022 Aug 4 doi: 10.1007/s10072-022-06270-x. PMID: 35925454
Lyso-glycosphingolipids: presence and consequences.
van Eijk M, Ferraz MJ, Boot RG, Aerts JMFG
Essays Biochem 2020 Sep 23;64(3):565-578. doi: 10.1042/EBC20190090. PMID: 32808655Free 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
Genetics and Therapies for GM2 Gangliosidosis.
Cachon-Gonzalez MB, Zaccariotto E, Cox TM
Curr Gene Ther 2018;18(2):68-89. doi: 10.2174/1566523218666180404162622. PMID: 29618308Free PMC Article
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: 17015493Free PMC Article

Clinical prediction guides

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
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B, Dauriat B, Richard L, Lamari F, Ghorab K, Magy L, Benkirane M, Perani A, Marquet V, Calvas P, Yardin C, Bourthoumieu S
Neurol Sci 2022 Nov;43(11):6517-6527. Epub 2022 Aug 4 doi: 10.1007/s10072-022-06270-x. PMID: 35925454
Lysosomal storage disorders.
Sheth J, Patel P, Sheth F, Shah R
Indian Pediatr 2004 Mar;41(3):260-5. PMID: 15064514
Variable clinical presentation in lysosomal storage disorders.
Beck M
J Inherit Metab Dis 2001;24 Suppl 2:47-51; discussion 45-6. doi: 10.1023/a:1012463605992. PMID: 11758678
Gangliosides and autoimmune diabetes.
Misasi R, Dionisi S, Farilla L, Carabba B, Lenti L, Di Mario U, Dotta F
Diabetes Metab Rev 1997 Sep;13(3):163-79. doi: 10.1002/(sici)1099-0895(199709)13:3<163::aid-dmr189>3.0.co;2-z. PMID: 9307889

Recent systematic reviews

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
Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.
Autti T, Joensuu R, Aberg L
Neuroradiology 2007 Jul;49(7):571-8. Epub 2007 Mar 3 doi: 10.1007/s00234-007-0220-6. PMID: 17334752

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