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Gm2-gangliosidosis, chronic

MedGen UID:
865425
•Concept ID:
C4016988
•
Finding
Synonym: GM2-GANGLIOSIDOSIS, CHRONIC
 
OMIM®: 606869

Professional guidelines

PubMed

Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model.
Kaback MM
Eur J Pediatr 2000 Dec;159 Suppl 3:S192-5. doi: 10.1007/pl00014401. PMID: 11216898

Recent clinical studies

Etiology

Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model.
Kaback MM
Eur J Pediatr 2000 Dec;159 Suppl 3:S192-5. doi: 10.1007/pl00014401. PMID: 11216898
Clinical manifestations of psychiatric patients who are carriers of tay-sachs disease. Possible role of psychotropic drugs.
Zelnik N, Khazanov V, Sheinkman A, Karpati AM, Peleg L
Neuropsychobiology 2000;41(3):127-31. doi: 10.1159/000026644. PMID: 10754426
Imipramine induced lipidosis and dexamethasone effect: morphological and biochemical study in normal and chronic GM2 gangliosidosis fibroblasts.
Palmeri S, Mangano L, Battisti C, Malandrini A, Federico A
J Neurol Sci 1992 Jul;110(1-2):215-21. doi: 10.1016/0022-510x(92)90030-o. PMID: 1506862
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
Paw BH, Tieu PT, Kaback MM, Lim J, Neufeld EF
Am J Hum Genet 1990 Oct;47(4):698-705. PMID: 2220809Free PMC Article
The Health Belief Model: a decade later.
Janz NK, Becker MH
Health Educ Q 1984 Spring;11(1):1-47. doi: 10.1177/109019818401100101. PMID: 6392204

Diagnosis

Late onset GM2 gangliosidosis mimicking spinal muscular atrophy.
Jamrozik Z, Lugowska A, Gołębiowski M, Królicki L, Mączewska J, Kuźma-Kozakiewicz M
Gene 2013 Sep 25;527(2):679-82. Epub 2013 Jun 29 doi: 10.1016/j.gene.2013.06.030. PMID: 23820084
Dysautonomic achalasia in two siblings with Sandhoff disease.
Pellegrini M, Zicari E, Dotti MT, Federico A
J Neurol Sci 2006 Feb 15;241(1-2):107-9. Epub 2005 Dec 13 doi: 10.1016/j.jns.2005.11.001. PMID: 16352312
Clinical manifestations of psychiatric patients who are carriers of tay-sachs disease. Possible role of psychotropic drugs.
Zelnik N, Khazanov V, Sheinkman A, Karpati AM, Peleg L
Neuropsychobiology 2000;41(3):127-31. doi: 10.1159/000026644. PMID: 10754426
The clinical aspects of adult hexosaminidase deficiencies.
Federico A, Palmeri S, Malandrini A, Fabrizi G, Mondelli M, Guazzi GC
Dev Neurosci 1991;13(4-5):280-7. doi: 10.1159/000112174. PMID: 1840098
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.
Specola N, Vanier MT, Goutières F, Mikol J, Aicardi J
Neurology 1990 Jan;40(1):145-50. doi: 10.1212/wnl.40.1.145. PMID: 2136940

Therapy

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
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).
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
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up.
Masciullo M, Santoro M, Modoni A, Ricci E, Guitton J, Tonali P, Silvestri G
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S355-61. Epub 2010 Sep 4 doi: 10.1007/s10545-010-9186-3. PMID: 20821051
The Health Belief Model: a decade later.
Janz NK, Becker MH
Health Educ Q 1984 Spring;11(1):1-47. doi: 10.1177/109019818401100101. PMID: 6392204

Prognosis

Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice.
Abo-Ouf H, Hooper AW, White EJ, Janse van Rensburg HJ, Trigatti BL, Igdoura SA
Hum Mol Genet 2013 Oct 1;22(19):3960-75. Epub 2013 May 31 doi: 10.1093/hmg/ddt250. PMID: 23727835
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up.
Masciullo M, Santoro M, Modoni A, Ricci E, Guitton J, Tonali P, Silvestri G
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S355-61. Epub 2010 Sep 4 doi: 10.1007/s10545-010-9186-3. PMID: 20821051
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.
Kornfeld M
Clin Neuropathol 2008 Sep-Oct;27(5):302-8. doi: 10.5414/npp27302. PMID: 18808061
Molecular and structural studies of the GM2 gangliosidosis 0 variant.
Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Lin H, Ohno K, Tanaka A, Yamada H, Uyama E
J Hum Genet 2002;47(4):176-83. doi: 10.1007/s100380200020. PMID: 12166653
Tay-Sachs disease with atypical chronic course and limited brain storage: alpha-locus hexosaminidase genetic compound.
Philippart M, Carrel RE, Landing BH
Neurochem Res 1995 Nov;20(11):1323-8. doi: 10.1007/BF00992507. PMID: 8786818

Clinical prediction guides

The GM2 ganglioside inhibits iNKT cell responses in a CD1d-dependent manner.
Pereira CS, Ribeiro H, Pérez-Cabezas B, Cardoso MT, Alegrete N, Gaspar A, Leão-Teles E, Macedo MF
Mol Genet Metab 2018 Sep;125(1-2):161-167. Epub 2018 Jul 18 doi: 10.1016/j.ymgme.2018.07.005. PMID: 30030044
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).
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
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.
Kornfeld M
Clin Neuropathol 2008 Sep-Oct;27(5):302-8. doi: 10.5414/npp27302. PMID: 18808061
Imipramine induced lipidosis and dexamethasone effect: morphological and biochemical study in normal and chronic GM2 gangliosidosis fibroblasts.
Palmeri S, Mangano L, Battisti C, Malandrini A, Federico A
J Neurol Sci 1992 Jul;110(1-2):215-21. doi: 10.1016/0022-510x(92)90030-o. PMID: 1506862
Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases.
Willner JP, Grabowski GA, Gordon RE, Bender AN, Desnick RJ
Neurology 1981 Jul;31(7):787-98. doi: 10.1212/wnl.31.7.787. PMID: 6454083

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