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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

Evidence of unspecified gangliosidosis. [from NCI]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGangliosidosis

Follow this link to review classifications for Gangliosidosis in Orphanet.

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

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: 33266180 Free 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

See all (26)

Recent clinical studies

Etiology

Lysosomal storage diseases.

Burlina AP, Manara R, Gueraldi D
Handb Clin Neurol 2024;204:147-172. doi: 10.1016/B978-0-323-99209-1.00008-9. PMID: 39322377

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: 36835039 Free PMC Article

Ganglioside Metabolism and Its Inherited Diseases.

Breiden B, Sandhoff K
Methods Mol Biol 2018;1804:97-141. doi: 10.1007/978-1-4939-8552-4_5. PMID: 29926406

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: 5551302 Free PMC Article

See all (163)

Diagnosis

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

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

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

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: 5551302 Free PMC Article

See all (436)

Therapy

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis.

Allende ML, Lee YT, Byrnes C, Li C, Tuymetova G, Bakir JY, Nicoli ER, James VK, Brodbelt JS, Tifft CJ, Proia RL
J Lipid Res 2023 Dec;64(12):100463. Epub 2023 Oct 21 doi: 10.1016/j.jlr.2023.100463. PMID: 37871851 Free PMC Article

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

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

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

See all (94)

Prognosis

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis.

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: 37526361 Free PMC Article

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: 32808655 Free 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: 29618308 Free 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

See all (116)

Clinical prediction guides

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: 38009419 Free PMC Article

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

Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis.

Boland S, Swarup S, Ambaw YA, Malia PC, Richards RC, Fischer AW, Singh S, Aggarwal G, Spina S, Nana AL, Grinberg LT, Seeley WW, Surma MA, Klose C, Paulo JA, Nguyen AD, Harper JW, Walther TC, Farese RV Jr
Nat Commun 2022 Oct 7;13(1):5924. doi: 10.1038/s41467-022-33500-9. PMID: 36207292 Free 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: 29491385 Free PMC Article

Lysosomal storage disorders.

Sheth J, Patel P, Sheth F, Shah R
Indian Pediatr 2004 Mar;41(3):260-5. PMID: 15064514

See all (222)

Recent systematic reviews

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

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

See all (4)

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Gangliosidosis

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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