GM1 gangliosidosis

Common Name(s)

GM1 gangliosidosis

GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. The three types include: classic infantile (type 1), juvenile (type 2), and adult onset or chronic (type 3). Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types. This condition is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "GM1 gangliosidosis" for support, advocacy or research.

National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

Last Updated: 13 May 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "GM1 gangliosidosis" for support, advocacy or research.

National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 13 May 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "GM1 gangliosidosis" returned 59 free, full-text research articles on human participants. First 3 results:

Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model.
 

Author(s): Heather L Gray-Edwards, Debra S Regier, Jamie L Shirley, Ashley N Randle, Nouha Salibi, Sarah E Thomas, Yvonne L Latour, Jean Johnston, Gretchen Golas, Annie S Maguire, Amanda R Taylor, Donald C Sorjonen, Victoria J McCurdy, Peter W Christopherson, Allison M Bradbury, Ronald J Beyers, Aime K Johnson, Brandon L Brunson, Nancy R Cox, Henry J Baker, Thomas S Denney, Miguel Sena-Esteves, Cynthia J Tifft, Douglas R Martin

Journal: Mol. Ther.. 2017 04;25(4):892-903.

 

GM1 gangliosidosis is a fatal neurodegenerative disease that affects individuals of all ages. Favorable outcomes using adeno-associated viral (AAV) gene therapy in GM1 mice and cats have prompted consideration of human clinical trials, yet there remains a paucity of objective biomarkers ...

Last Updated: 31 Dec 1969

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Peripheral blood findings in GM1 gangliosidosis.
 

Author(s): David T Lynch, David R Czuchlewski

Journal: Blood. 2016 04;127(17):2161.

 

Last Updated: 31 Dec 1969

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Mongolian Spots in GM1 Gangliosidosis.
 

Author(s): Naveen Kumar Bhardwaj, Daisy Khera

Journal: Indian Pediatr. 2016 Dec;53(12):1133.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "GM1 gangliosidosis" returned 1 free, full-text review articles on human participants. First 3 results:

Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
 

Author(s): J W Callahan

Journal: Biochim. Biophys. Acta. 1999 Oct;1455(2-3):85-103.

 

GM1 gangliosidosis and Morquio B disease are distinct disorders both clinically and biochemically yet they arise from the same beta-galactosidase enzyme deficiency. On the other hand, galactosialidosis and sialidosis share common clinical and biochemical features, yet they arise from ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Synergistic Enteral Regimen for Treatment of the Gangliosidoses
 

Status: Recruiting

Condition Summary: GM1 Gangliosidoses; GM2 Gangliosidoses; Tay-Sachs Disease; Sandhoff Disease

 

Last Updated: 24 Aug 2018

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A Natural History Study of the Gangliosidoses
 

Status: Recruiting

Condition Summary: Tay-Sachs Disease; Sandhoff Disease; Late Onset Tay-Sachs Disease; GM1 Gangliosidosis; GM2 Gangliosidosis

 

Last Updated: 24 Aug 2018

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Longitudinal Study of Neurodegenerative Disorders
 

Status: Recruiting

Condition Summary: MLD; Krabbe Disease; ALD; MPS I; MPS II; MPS III; Vanishing White Matter Disease; GM3 Gangliosidosis; PKAN; Tay-Sachs Disease; NP Deficiency; Osteopetrosis; Alpha-Mannosidosis; Sandhoff Disease; Niemann-Pick Diseases; MPS IV; Gaucher Disease; GAN; GM1 Gangliosidoses; Morquio Disease; S-Adenosylhomocysteine Hydrolase Deficiency; Batten Disease; Pelizaeus-Merzbacher Disease; Leukodystrophy; Lysosomal Storage Diseases; Purine Nucleoside Phosphorylase Deficiency; Multiple Sulfatase Deficiency Disease

 

Last Updated: 31 Jan 2018

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