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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]

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: 33266180Free PMC Article
Amniotic tissue transplantation as a trial of treatment in some lysosomal storage diseases.
Tylki-Szymańska A, Maciejko D, Kidawa M, Jabłońska-Budaj U, Czartoryska B
J Inherit Metab Dis 1985;8(3):101-4. doi: 10.1007/BF01819289. PMID: 3939584

Recent clinical studies

Etiology

Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis.
Vyas M, Deschenes NM, Osmon KJL, Chen Z, Ahmad I, Kot S, Thompson P, Richmond C, Gray SJ, Walia JS
Int J Mol Sci 2023 Sep 27;24(19) doi: 10.3390/ijms241914611. PMID: 37834060Free PMC Article
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
Sandhoff disease in the elderly: a case study.
García Morales L, Mustelier Bécquer RG, Pérez Joglar L, Zaldívar Vaillant T
Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb;23(1-2):137-138. Epub 2021 Mar 2 doi: 10.1080/21678421.2021.1892146. PMID: 33650927
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
Sphingolipidoses.
Yatsu FM
Calif Med 1971 Apr;114(4):1-6. PMID: 5551302Free PMC Article

Diagnosis

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
Sandhoff disease in the elderly: a case study.
García Morales L, Mustelier Bécquer RG, Pérez Joglar L, Zaldívar Vaillant T
Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb;23(1-2):137-138. Epub 2021 Mar 2 doi: 10.1080/21678421.2021.1892146. PMID: 33650927
Lysosomal storage disease.
Khatiwada B, Pokharel A
JNMA J Nepal Med Assoc 2009 Jul-Sep;48(175):242-5. PMID: 20795466
Lysosomal storage disorders.
Sheth J, Patel P, Sheth F, Shah R
Indian Pediatr 2004 Mar;41(3):260-5. PMID: 15064514
Sphingolipidoses.
Yatsu FM
Calif Med 1971 Apr;114(4):1-6. PMID: 5551302Free PMC Article

Therapy

Chaperone therapy for molecular pathology in lysosomal diseases.
Suzuki Y
Brain Dev 2021 Jan;43(1):45-54. Epub 2020 Jul 29 doi: 10.1016/j.braindev.2020.06.015. PMID: 32736903
Inhibition of complement in Guillain-Barré syndrome: the ICA-GBS study.
Davidson AI, Halstead SK, Goodfellow JA, Chavada G, Mallik A, Overell J, Lunn MP, McConnachie A, van Doorn P, Willison HJ
J Peripher Nerv Syst 2017 Mar;22(1):4-12. doi: 10.1111/jns.12194. PMID: 27801990
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
Chemical chaperone therapy for GM1-gangliosidosis.
Suzuki Y
Cell Mol Life Sci 2008 Feb;65(3):351-3. doi: 10.1007/s00018-008-7470-2. PMID: 18202827Free PMC Article
Substrate reduction therapy for lysosomal storage diseases.
Cox TM
Acta Paediatr Suppl 2005 Mar;94(447):69-75; discussion 57. doi: 10.1111/j.1651-2227.2005.tb02116.x. PMID: 15895716

Prognosis

Objective Assessment of Upper-Extremity Motor Functions in Spinocerebellar Ataxia Using Wearable Sensors.
Mohammadi-Ghazi R, Nguyen H, Mishra RK, Enriquez A, Najafi B, Stephen CD, Gupta AS, Schmahmann JD, Vaziri A
Sensors (Basel) 2022 Oct 20;22(20) doi: 10.3390/s22207993. PMID: 36298343Free 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: 32808655Free PMC Article
Movement disorders and inborn errors of metabolism in adults: a diagnostic approach.
Sedel F, Saudubray JM, Roze E, Agid Y, Vidailhet M
J Inherit Metab Dis 2008 Jun;31(3):308-18. Epub 2008 May 30 doi: 10.1007/s10545-008-0854-5. PMID: 18563632
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
Roze E, Paschke E, Lopez N, Eck T, Yoshida K, Maurel-Ollivier A, Doummar D, Caillaud C, Galanaud D, Billette de Villemeur T, Vidailhet M, Roubergue A
Mov Disord 2005 Oct;20(10):1366-9. doi: 10.1002/mds.20593. PMID: 15986423
Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues.
Rosebush PI, MacQueen GM, Clarke JT, Callahan JW, Strasberg PM, Mazurek MF
J Clin Psychiatry 1995 Aug;56(8):347-53. PMID: 7635850

Clinical prediction guides

Gene expression changes in Tay-Sachs disease begin early in fetal brain development.
Han ST, Hirt A, Nicoli ER, Kono M, Toro C, Proia RL, Tifft CJ
J Inherit Metab Dis 2023 Jul;46(4):687-694. Epub 2023 Feb 5 doi: 10.1002/jimd.12596. PMID: 36700853Free PMC Article
Objective Assessment of Upper-Extremity Motor Functions in Spinocerebellar Ataxia Using Wearable Sensors.
Mohammadi-Ghazi R, Nguyen H, Mishra RK, Enriquez A, Najafi B, Stephen CD, Gupta AS, Schmahmann JD, Vaziri A
Sensors (Basel) 2022 Oct 20;22(20) doi: 10.3390/s22207993. PMID: 36298343Free PMC Article
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: 36207292Free 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
Inhibition of complement in Guillain-Barré syndrome: the ICA-GBS study.
Davidson AI, Halstead SK, Goodfellow JA, Chavada G, Mallik A, Overell J, Lunn MP, McConnachie A, van Doorn P, Willison HJ
J Peripher Nerv Syst 2017 Mar;22(1):4-12. doi: 10.1111/jns.12194. PMID: 27801990

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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