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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
Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models.
Kot S, Karumuthil-Melethil S, Woodley E, Zaric V, Thompson P, Chen Z, Lykken E, Keimel JG, Kaemmerer WF, Gray SJ, Walia JS
Int J Mol Sci 2021 Jun 23;22(13) doi: 10.3390/ijms22136751. PMID: 34201771Free PMC Article

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
Plasma G(M2) ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Blondel A, Kraoua I, Marcelino C, Khrouf W, Schlemmer D, Ganne B, Caillaud C, Fernández-Eulate G, Turki IBY, Dauriat B, Bonnefont-Rousselot D, Nadjar Y, Lamari F
Mol Genet Metab 2023 Feb;138(2):106983. Epub 2022 Dec 26 doi: 10.1016/j.ymgme.2022.106983. PMID: 36709536
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
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
Plasma G(M2) ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Blondel A, Kraoua I, Marcelino C, Khrouf W, Schlemmer D, Ganne B, Caillaud C, Fernández-Eulate G, Turki IBY, Dauriat B, Bonnefont-Rousselot D, Nadjar Y, Lamari F
Mol Genet Metab 2023 Feb;138(2):106983. Epub 2022 Dec 26 doi: 10.1016/j.ymgme.2022.106983. PMID: 36709536
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
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
Gangliosidoses.
Patterson MC
Handb Clin Neurol 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. PMID: 23622392

Therapy

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset.
Kern J, Böhringer J, Timmann D, Trollmann R, Stendel C, Kamm C, Röbl M, Santhanakumaran V, Groeschel S, Beck-Wödl S, Göricke S, Krägeloh-Mann I, Synofzik M
Neurology 2024 Jan 9;102(1):e207898. Epub 2023 Dec 12 doi: 10.1212/WNL.0000000000207898. PMID: 38165373Free PMC Article
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
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

Life-Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy.
Johnson AK, McCurdy VJ, Gray-Edwards HL, Maguire AS, Cochran JN, Gross AL, Skinner HE, Randle AN, Shirley JL, Brunson BL, Bradbury AM, Leroy SG, Hwang M, Rockwell HE, Cox NR, Baker HJ, Seyfried TN, Sena-Esteves M, Martin DR
Ann Neurol 2023 Nov;94(5):969-986. Epub 2023 Aug 16 doi: 10.1002/ana.26756. PMID: 37526361Free PMC Article
Plasma G(M2) ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Blondel A, Kraoua I, Marcelino C, Khrouf W, Schlemmer D, Ganne B, Caillaud C, Fernández-Eulate G, Turki IBY, Dauriat B, Bonnefont-Rousselot D, Nadjar Y, Lamari F
Mol Genet Metab 2023 Feb;138(2):106983. Epub 2022 Dec 26 doi: 10.1016/j.ymgme.2022.106983. PMID: 36709536
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
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

Clinical prediction guides

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset.
Kern J, Böhringer J, Timmann D, Trollmann R, Stendel C, Kamm C, Röbl M, Santhanakumaran V, Groeschel S, Beck-Wödl S, Göricke S, Krägeloh-Mann I, Synofzik M
Neurology 2024 Jan 9;102(1):e207898. Epub 2023 Dec 12 doi: 10.1212/WNL.0000000000207898. PMID: 38165373Free PMC Article
Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.
Godbole NP, Haxton E, Rowe OE, Locascio JJ, Schmahmann JD, Eichler FS, Ratai EM, Stephen CD
Ann Clin Transl Neurol 2024 Jan;11(1):207-224. Epub 2023 Nov 27 doi: 10.1002/acn3.51947. PMID: 38009419Free PMC Article
Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis.
Deschenes NM, Cheng C, Ryckman AE, Quinville BM, Khanal P, Mitchell M, Chen Z, Sangrar W, Gray SJ, Walia JS
Int J Mol Sci 2023 May 24;24(11) doi: 10.3390/ijms24119217. PMID: 37298170Free PMC Article
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

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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