Sandhoff Disease

"Sandhoff Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.

Descriptor ID	D012497
MeSH Number(s)	C10.228.140.163.100.435.825.300.300.249 C16.320.565.189.435.825.300.300.249 C16.320.565.398.641.803.350.300.700 C16.320.565.595.554.825.300.300.800 C18.452.132.100.435.825.300.300.249 C18.452.584.687.803.350.300.700 C18.452.648.189.435.825.300.300.249 C18.452.648.398.641.803.350.300.700 C18.452.648.595.554.825.300.300.800
Concept/Terms	Sandhoff Disease Sandhoff Disease Deficiency Disease, Hexosaminidase A and B Gangliosidosis G(M2), Type II Gangliosidosis GM2, Type II GM2-Gangliosidosis, Type II GM2-Gangliosidoses, Type II Type II GM2-Gangliosidoses Type II GM2-Gangliosidosis GM2 Gangliosidosis, Type II Hexosaminidase A and B Deficiency Disease Hexosaminidases A And B Deficiency Sandhoff's Disease Sandhoffs Disease Sandhoff-Jatzkewitz-Pilz Disease Disease, Sandhoff-Jatzkewitz-Pilz Sandhoff Jatzkewitz Pilz Disease G(M2) Gangliosidosis, Type II GM2 Gangliosidosis, Type 2 Infantile Sandhoff Disease Infantile Sandhoff Disease Sandhoff Disease, Infantile Total Hexosaminidase Deficiency Total Hexosaminidase Deficiency Deficiencies, Total Hexosaminidase Deficiency, Total Hexosaminidase Hexosaminidase Deficiencies, Total Hexosaminidase Deficiency, Total Total Hexosaminidase Deficiencies beta-Hexosaminidase-beta-Subunit Deficiency Deficiencies, beta-Hexosaminidase-beta-Subunit Deficiency, beta-Hexosaminidase-beta-Subunit beta Hexosaminidase beta Subunit Deficiency beta-Hexosaminidase-beta-Subunit Deficiencies Juvenile Sandhoff Disease Juvenile Sandhoff Disease Sandhoff Disease, Juvenile Adult Sandhoff Disease Adult Sandhoff Disease Sandhoff Disease, Adult

Below are MeSH descriptors whose meaning is more general than "Sandhoff Disease".

Diseases [C]
Nervous System Diseases [C10]
Central Nervous System Diseases [C10.228]
Brain Diseases [C10.228.140]
Brain Diseases, Metabolic [C10.228.140.163]
Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
Sphingolipidoses [C10.228.140.163.100.435.825]
Gangliosidoses [C10.228.140.163.100.435.825.300]
Gangliosidoses, GM2 [C10.228.140.163.100.435.825.300.300]
Sandhoff Disease [C10.228.140.163.100.435.825.300.300.249]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Brain Diseases, Metabolic, Inborn [C16.320.565.189]
Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
Sphingolipidoses [C16.320.565.189.435.825]
Gangliosidoses [C16.320.565.189.435.825.300]
Gangliosidoses, GM2 [C16.320.565.189.435.825.300.300]
Sandhoff Disease [C16.320.565.189.435.825.300.300.249]
Lipid Metabolism, Inborn Errors [C16.320.565.398]
Lipidoses [C16.320.565.398.641]
Sphingolipidoses [C16.320.565.398.641.803]
Gangliosidoses [C16.320.565.398.641.803.350]
Gangliosidoses, GM2 [C16.320.565.398.641.803.350.300]
Sandhoff Disease [C16.320.565.398.641.803.350.300.700]
Lysosomal Storage Diseases [C16.320.565.595]
Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
Sphingolipidoses [C16.320.565.595.554.825]
Gangliosidoses [C16.320.565.595.554.825.300]
Gangliosidoses, GM2 [C16.320.565.595.554.825.300.300]
Sandhoff Disease [C16.320.565.595.554.825.300.300.800]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Brain Diseases, Metabolic [C18.452.132]
Brain Diseases, Metabolic, Inborn [C18.452.132.100]
Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
Sphingolipidoses [C18.452.132.100.435.825]
Gangliosidoses [C18.452.132.100.435.825.300]
Gangliosidoses, GM2 [C18.452.132.100.435.825.300.300]
Sandhoff Disease [C18.452.132.100.435.825.300.300.249]
Lipid Metabolism Disorders [C18.452.584]
Lipidoses [C18.452.584.687]
Sphingolipidoses [C18.452.584.687.803]
Gangliosidoses [C18.452.584.687.803.350]
Gangliosidoses, GM2 [C18.452.584.687.803.350.300]
Sandhoff Disease [C18.452.584.687.803.350.300.700]
Metabolism, Inborn Errors [C18.452.648]
Brain Diseases, Metabolic, Inborn [C18.452.648.189]
Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
Sphingolipidoses [C18.452.648.189.435.825]
Gangliosidoses [C18.452.648.189.435.825.300]
Gangliosidoses, GM2 [C18.452.648.189.435.825.300.300]
Sandhoff Disease [C18.452.648.189.435.825.300.300.249]
Lipid Metabolism, Inborn Errors [C18.452.648.398]
Lipidoses [C18.452.648.398.641]
Sphingolipidoses [C18.452.648.398.641.803]
Gangliosidoses [C18.452.648.398.641.803.350]
Gangliosidoses, GM2 [C18.452.648.398.641.803.350.300]
Sandhoff Disease [C18.452.648.398.641.803.350.300.700]
Lysosomal Storage Diseases [C18.452.648.595]
Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
Sphingolipidoses [C18.452.648.595.554.825]
Gangliosidoses [C18.452.648.595.554.825.300]
Gangliosidoses, GM2 [C18.452.648.595.554.825.300.300]
Sandhoff Disease [C18.452.648.595.554.825.300.300.800]

Below are MeSH descriptors whose meaning is related to "Sandhoff Disease".

Below are MeSH descriptors whose meaning is more specific than "Sandhoff Disease".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Sandhoff Disease" by people in this website by year, and whether "Sandhoff Disease" was a major or minor topic of these publications.

Bar chart showing 14 publications over 8 distinct years, with a maximum of 4 publications in 2020

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2013	1	0	1
2014	2	0	2
2015	3	0	3
2016	1	0	1
2018	1	0	1
2020	3	1	4
2023	1	0	1
2024	0	1	1

Below are the most recent publications written about "Sandhoff Disease" by people in Profiles.

Beecy SJ, Gross AL, Maguire AS, Hoffman LMK, Diffie EB, Cuddon P, Kell P, Jiang X, Gray-Edwards HL, Martin DR. Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency. Mol Genet Metab. 2025 Jan; 144(1):108615.

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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. Life-Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy. Ann Neurol. 2023 11; 94(5):969-986.

View in: PubMed
McCurdy VJ, Johnson AK, Gray-Edwards HL, Randle AN, Bradbury AM, Morrison NE, Hwang M, Baker HJ, Cox NR, Sena-Esteves M, Martin DR. Therapeutic benefit after intracranial gene therapy delivered during the symptomatic stage in a feline model of Sandhoff disease. Gene Ther. 2021 04; 28(3-4):142-154.

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Brekk OR, Korecka JA, Crapart CC, Huebecker M, MacBain ZK, Rosenthal SA, Sena-Esteves M, Priestman DA, Platt FM, Isacson O, Hallett PJ. Upregulating ?-hexosaminidase activity in rodents prevents a-synuclein lipid associations and protects dopaminergic neurons from a-synuclein-mediated neurotoxicity. Acta Neuropathol Commun. 2020 08 06; 8(1):127.

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McNulty MA, Prevatt PB, Nussbaum ER, Randle AN, Johnson AK, Hudson JA, Gray-Edwards HL, Sena-Esteves M, Martin DR, Carlson CS. Abnormal epiphyseal development in a feline model of Sandhoff disease. J Orthop Res. 2020 12; 38(12):2580-2591.

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Lahey HG, Webber CJ, Golebiowski D, Izzo CM, Horn E, Taghian T, Rodriguez P, Batista AR, Ellis LE, Hwang M, Martin DR, Gray-Edwards H, Sena-Esteves M. Pronounced Therapeutic Benefit of a Single Bidirectional AAV Vector Administered Systemically in Sandhoff Mice. Mol Ther. 2020 10 07; 28(10):2150-2160.

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Allende ML, Cook EK, Larman BC, Nugent A, Brady JM, Golebiowski D, Sena-Esteves M, Tifft CJ, Proia RL. Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation. J Lipid Res. 2018 03; 59(3):550-563.

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Bradbury AM, Peterson TA, Gross AL, Wells SZ, McCurdy VJ, Wolfe KG, Dennis JC, Brunson BL, Gray-Edwards H, Randle AN, Johnson AK, Morrison EE, Cox NR, Baker HJ, Sena-Esteves M, Martin DR. AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease. Neuroscience. 2017 01 06; 340:117-125.

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Gray-Edwards HL, Brunson BL, Holland M, Hespel AM, Bradbury AM, McCurdy VJ, Beadlescomb PM, Randle AN, Salibi N, Denney TS, Beyers RJ, Johnson AK, Voyles ML, Montgomery RD, Wilson DU, Hudson JA, Cox NR, Baker HJ, Sena-Esteves M, Martin DR. Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):80-7.

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Rockwell HE, McCurdy VJ, Eaton SC, Wilson DU, Johnson AK, Randle AN, Bradbury AM, Gray-Edwards HL, Baker HJ, Hudson JA, Cox NR, Sena-Esteves M, Seyfried TN, Martin DR. AAV-mediated gene delivery in a feline model of Sandhoff disease corrects lysosomal storage in the central nervous system. ASN Neuro. 2015 Mar-Apr; 7(2).

View in: PubMed

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