U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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 rare autosomal recessively inherited progressive neurological disorders caused by GM2 ganglioside accumulation in lysosomes. Representative examples include Tay-Sachs and Sandhoff disease. [from NCI]

Professional guidelines

PubMed

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
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
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

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
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
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
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
Patterson MC
Handb Clin Neurol 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. PMID: 23622392

Diagnosis

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
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
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
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
Patterson MC
Handb Clin Neurol 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. PMID: 23622392

Therapy

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
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
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
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
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

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
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
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
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
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

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
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
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
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
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

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
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

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...