U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GM2-gangliosidosis, adult-onset

MedGen UID:
934860
Concept ID:
C4310893
Disease or Syndrome
Synonym: GM2-GANGLIOSIDOSIS, ADULT-ONSET
 
OMIM®: 606869

Professional guidelines

PubMed

Gazulla J, Ruiz-Gazulla C, Tintore M
Curr Pharm Des 2015;21(34):4989-95. doi: 10.2174/1381612821666150914120923. PMID: 26365142

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
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
Ysselstein D, Shulman JM, Krainc D
Mov Disord 2019 May;34(5):614-624. Epub 2019 Feb 6 doi: 10.1002/mds.27631. PMID: 30726573Free PMC Article
Zhang J, Chen H, Kornreich R, Yu C
Methods Mol Biol 2019;1885:233-250. doi: 10.1007/978-1-4939-8889-1_16. PMID: 30506202
Nathanson JW, Winans CS
Dig Dis Sci 2006 Jan;51(1):132-7. doi: 10.1007/s10620-006-3097-z. PMID: 16416225

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
Khoueiry M, Malek E, Salameh JS
Amyotroph Lateral Scler Frontotemporal Degener 2020 Feb;21(1-2):144-146. Epub 2019 Sep 12 doi: 10.1080/21678421.2019.1663214. PMID: 31512525
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
Hechtman P, Boulay B, De Braekeleer M, Andermann E, Melançon S, Larochelle J, Prevost C, Kaplan F
Hum Genet 1992 Dec;90(4):402-6. doi: 10.1007/BF00220467. PMID: 1483696
O'Neill B, Butler AB, Young E, Falk PM, Bass NH
Neurology 1978 Nov;28(11):1117-23. doi: 10.1212/wnl.28.11.1117. PMID: 568730

Therapy

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
Gazulla J, Ruiz-Gazulla C, Tintore M
Curr Pharm Des 2015;21(34):4989-95. doi: 10.2174/1381612821666150914120923. PMID: 26365142
Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB
Mol Genet Metab 2011 Jan;102(1):6-12. Epub 2010 Sep 17 doi: 10.1016/j.ymgme.2010.09.004. PMID: 20926324Free PMC Article
Nathanson JW, Winans CS
Dig Dis Sci 2006 Jan;51(1):132-7. doi: 10.1007/s10620-006-3097-z. PMID: 16416225
Hurowitz GI, Silver JM, Brin MF, Williams DT, Johnson WG
J Neuropsychiatry Clin Neurosci 1993 Winter;5(1):30-6. doi: 10.1176/jnp.5.1.30. PMID: 8428133

Prognosis

Májovská J, Hennig A, Nestrasil I, Schneider SA, Jahnová H, Vaněčková M, Magner M, Dušek P
Neurol Sci 2022 May;43(5):3273-3281. Epub 2021 Nov 20 doi: 10.1007/s10072-021-05757-3. PMID: 34800199
Martin DC, Mark BL, Triggs-Raine BL, Natowicz MR
Clin Chem 2007 Mar;53(3):392-8. Epub 2007 Jan 26 doi: 10.1373/clinchem.2006.082727. PMID: 17259242
Nathanson JW, Winans CS
Dig Dis Sci 2006 Jan;51(1):132-7. doi: 10.1007/s10620-006-3097-z. PMID: 16416225
Hurowitz GI, Silver JM, Brin MF, Williams DT, Johnson WG
J Neuropsychiatry Clin Neurosci 1993 Winter;5(1):30-6. doi: 10.1176/jnp.5.1.30. PMID: 8428133
Trop I, Kaplan F, Brown C, Mahuran D, Hechtman P
Hum Mutat 1992;1(1):35-9. doi: 10.1002/humu.1380010106. PMID: 1301189

Clinical prediction guides

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
Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB
Mol Genet Metab 2011 Jan;102(1):6-12. Epub 2010 Sep 17 doi: 10.1016/j.ymgme.2010.09.004. PMID: 20926324Free PMC Article
Martin DC, Mark BL, Triggs-Raine BL, Natowicz MR
Clin Chem 2007 Mar;53(3):392-8. Epub 2007 Jan 26 doi: 10.1373/clinchem.2006.082727. PMID: 17259242
Trop I, Kaplan F, Brown C, Mahuran D, Hechtman P
Hum Mutat 1992;1(1):35-9. doi: 10.1002/humu.1380010106. PMID: 1301189
Jellinger K, Anzil AP, Seemann D, Bernheimer H
Clin Neuropathol 1982;1(1):31-44. PMID: 7166018

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
Ysselstein D, Shulman JM, Krainc D
Mov Disord 2019 May;34(5):614-624. Epub 2019 Feb 6 doi: 10.1002/mds.27631. PMID: 30726573Free PMC Article

Supplemental Content

Table of contents

    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...