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Gangliosidosis

MedGen UID:
42149
•Concept ID:
C0017083
•
Disease or Syndrome
Synonyms: Ganglioside Storage Disease; Ganglioside Storage Diseases; Ganglioside Storage Disorder; Ganglioside Storage Disorders; Gangliosidoses; Storage Disease, Ganglioside; Storage Diseases, Ganglioside; Storage Disorder, Ganglioside; Storage Disorders, Ganglioside
SNOMED CT: Gangliosidosis (50967008); Ganglioside accumulation in nervous tissue lysosomes (50967008); Ganglioside storage disease (50967008)
 
Monarch Initiative: MONDO:0017719
Orphanet: ORPHA309144

Definition

A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. [from MONDO]

Professional guidelines

PubMed

Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH
Mol Genet Metab 2023 Sep-Oct;140(1-2):107632. Epub 2023 Jun 24 doi: 10.1016/j.ymgme.2023.107632. PMID: 37407323Free 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
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.
Yuskiv N, Higaki K, Stockler-Ipsiroglu S
Int J Mol Sci 2020 Nov 30;21(23) doi: 10.3390/ijms21239121. PMID: 33266180Free 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
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
Sphingolipidoses.
Yatsu FM
Calif Med 1971 Apr;114(4):1-6. PMID: 5551302Free PMC Article

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
Late-onset Tay-Sachs disease.
Barritt AW, Anderson SJ, Leigh PN, Ridha BH
Pract Neurol 2017 Oct;17(5):396-399. Epub 2017 Jul 24 doi: 10.1136/practneurol-2017-001665. PMID: 28739864
Gangliosidoses.
Patterson MC
Handb Clin Neurol 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. PMID: 23622392
Sphingolipidoses.
Yatsu FM
Calif Med 1971 Apr;114(4):1-6. PMID: 5551302Free PMC Article

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
Dermal melanocytosis and associated disorders.
Franceschini D, Dinulos JG
Curr Opin Pediatr 2015 Aug;27(4):480-5. doi: 10.1097/MOP.0000000000000247. PMID: 26087431
Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease.
Suzuki Y
Brain Dev 2013 Jun;35(6):515-23. Epub 2013 Jan 3 doi: 10.1016/j.braindev.2012.12.002. PMID: 23290321

Prognosis

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
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
Dermal melanocytosis and associated disorders.
Franceschini D, Dinulos JG
Curr Opin Pediatr 2015 Aug;27(4):480-5. doi: 10.1097/MOP.0000000000000247. PMID: 26087431
Sphingolipidoses in Turkey.
Ozkara HA, Topçu M
Brain Dev 2004 Sep;26(6):363-6. doi: 10.1016/j.braindev.2003.09.006. PMID: 15275696

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
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
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
Lang FM, Korner P, Harnett M, Karunakara A, Tifft CJ
Mol Genet Metab 2020 Mar;129(3):228-235. Epub 2019 Dec 30 doi: 10.1016/j.ymgme.2019.12.012. PMID: 31937438Free PMC Article
Mitochondria-associated membranes in aging and senescence: structure, function, and dynamics.
Janikiewicz J, Szymański J, Malinska D, Patalas-Krawczyk P, Michalska B, Duszyński J, Giorgi C, Bonora M, Dobrzyn A, Wieckowski MR
Cell Death Dis 2018 Feb 28;9(3):332. doi: 10.1038/s41419-017-0105-5. PMID: 29491385Free PMC Article

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
Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.
Iyer NS, Gimovsky AC, Ferreira CR, Critchlow E, Al-Kouatly HB
Clin Genet 2021 Nov;100(5):493-503. Epub 2021 Jul 16 doi: 10.1111/cge.14005. PMID: 34057202
Lysosomal storage disease as an etiology of nonimmune hydrops.
Gimovsky AC, Luzi P, Berghella V
Am J Obstet Gynecol 2015 Mar;212(3):281-90. Epub 2014 Oct 8 doi: 10.1016/j.ajog.2014.10.007. PMID: 25305402
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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