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Sandhoff Disease (Sandhoff's Disease)

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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.

Also Known As:

Sandhoff's Disease; Adult Sandhoff Disease; Deficiency Disease, Hexosaminidase A and B; GM2 Gangliosidosis, Type 2; GM2 Gangliosidosis, Type II; Gangliosidosis GM2, Type II; Infantile Sandhoff Disease; Juvenile Sandhoff Disease; Sandhoff Disease, Adult; Sandhoff Disease, Infantile; Sandhoff Disease, Juvenile; Sandhoff-Jatzkewitz-Pilz Disease; Total Hexosaminidase Deficiency; beta-Hexosaminidase-beta-Subunit Deficiency; Deficiencies, Total Hexosaminidase; Deficiencies, beta-Hexosaminidase-beta-Subunit; Deficiency, Total Hexosaminidase; Deficiency, beta-Hexosaminidase-beta-Subunit; Disease, Sandhoff-Jatzkewitz-Pilz; Hexosaminidase Deficiencies, Total; Hexosaminidase Deficiency, Total; Sandhoff Jatzkewitz Pilz Disease; Sandhoffs Disease; Total Hexosaminidase Deficiencies; beta Hexosaminidase beta Subunit Deficiency; beta-Hexosaminidase-beta-Subunit Deficiencies; G(M2) Gangliosidosis, Type II; Gangliosidosis G(M2), Type II; Hexosaminidase A and B Deficiency Disease

Networked: 225 relevant articles (5 outcomes, 15 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Lysosomal Storage Diseases (Lysosomal Storage Disease)
2.	Neurologic Manifestations (Neurological Manifestations)
3.	Disease Progression
4.	Tay-Sachs Disease
5.	GM2 Gangliosidoses (GM2 Gangliosidosis)

Experts

1.	Tsuji, Daisuke: 13 articles (01/2013 - 03/2005)
2.	Itoh, Kohji: 12 articles (10/2011 - 03/2005)
3.	Seyfried, Thomas N: 10 articles (05/2015 - 05/2006)
4.	Platt, Frances M: 8 articles (01/2015 - 08/2002)
5.	Sakuraba, Hitoshi: 7 articles (01/2013 - 08/2006)
6.	Yamanaka, Shoji: 7 articles (01/2010 - 03/2003)
7.	Jeyakumar, Mylvaganam: 6 articles (01/2015 - 08/2002)
8.	Matsuoka, Kazuhiko: 6 articles (10/2011 - 03/2007)
9.	Butters, Terry D: 6 articles (06/2010 - 08/2002)
10.	Caillaud, Catherine: 5 articles (08/2014 - 11/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Sandhoff Disease:

1.	N-butyldeoxygalactonojirimycinIBA 08/01/2004 - "Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease." 05/01/2008 - "NB-DGJ treatment, administered from postnatal day 2 (p-2) to p-5 (600 mg/kg/day)), significantly reduced total brain ganglioside and GM2 content in the Sandhoff disease (Hexb(-/-)) mice, but did not reduce the content of GA2. " 05/01/2008 - "N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice." 08/01/2004 - "In the present study, a more selective compound, the galactose analogue N-butyldeoxygalactonojirimycin (NB-DGJ), was evaluated in the Sandhoff disease mouse model. "
2.	Biological Markers (Surrogate Marker)IBA 01/01/2015 - "Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease."
3.	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 10/01/2013 - "Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice."
4.	Liposomes (Liposome)IBA 03/01/2003 - "We evaluated the efficacy of cationic liposome-mediated plasmid gene therapy using the Sandhoff disease mouse, an animal model of a human lysosomal storage disease. "
5.	miglustat (Zavesca)FDA Link 12/01/2010 - "We document some minor effects on neurological progression in chronic Sandhoff disease by miglustat treatment, confirming the necessity of phase II therapeutic trials including early-stage patients in order to assess its putative efficacy in chronic Sandhoff disease." 12/01/2009 - "Under treatment with miglustat the clinical course in our patient with Sandhoff disease did not further deteriorate." 12/01/2009 - "These findings suggest that miglustat may provide beneficial effects in patients with juvenile Sandhoff disease, and that ECT may alleviate depressive symptoms." 12/01/2009 - "Here we present a case report of a Norwegian patient with Sandhoff disease treated with miglustat at our centre in Norway. " 12/01/2009 - "Miglustat therapy in juvenile Sandhoff disease."
6.	beta-N-AcetylhexosaminidasesIBA 02/18/2005 - "The aim of this study was to investigate the effects of a FIV beta-hexosaminidase vector in the brain of HexB-deficient (Sandhoff disease) mice following intraperitoneal administration to pups of neonatal age. " 08/01/2010 - "Introduction of an N-glycan sequon into HEXA enhances human beta-hexosaminidase cellular uptake in a model of Sandhoff disease." 06/01/2010 - "Sandhoff's disease is a rare autosomal-recessive disorder of sphingolipid metabolism that results from a deficiency of lysosomal enzyme beta-hexosaminidase A and B. " 03/01/2010 - "Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease?" 02/01/2010 - "Sandhoff disease (SD) is a lysosomal storage disorder due to mutations in the gene encoding for the beta-subunit of beta-hexosaminidase, that result in beta-hexosaminidase A (alphabeta) and beta-hexosaminidase B (betabeta) deficiency. "
7.	Hexosaminidase A (Hex A)IBA 09/01/1989 - "Enzyme studies revealed hexosaminidase A and B deficiency, indicating a diagnosis of Sandhoff disease. " 04/01/2014 - "Hexosaminidase A was 69.5 (mg·h) [normal controls 150-360 nmol/(mg·h)], hexosaminidase A & B activity was 119 nmol/(mg·h)[normal controls 600-3 500 nmol/(mg·h)], confirming the diagnosis of Sandhoff disease. " 07/01/2013 - "Significant deficient total β-hexosaminidase (A and B) activity in peripheral leucocytes of the patient (0.0 nmol/h/mg compared with normal control, 41.9 to 135.1 nmol/h/mg) supported the diagnosis of Sandhoff disease. " 05/01/1996 - "The diagnosis of Sandhoff's disease was established by low serum levels of hexosaminidase A and B." 11/01/1995 - "Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease)."
8.	First StepIBA 08/01/2004 - "In a previous study, we reported the beneficial effects of treating Sandhoff disease mice with the glucose analogue N-butyldeoxynojirimycin (NB-DNJ), a compound that inhibits the first step of GSL biosynthesis catalysed by the ceramide specific glucosyltransferase. " 06/01/2010 - "Previous studies showed that caloric restriction, which augments longevity, and N-butyldeoxynojirimycin (NB-DNJ, Miglustat), an imino sugar that hinders the glucosyltransferase catalyzing the first step in glycosphingolipid biosynthesis, both increase longevity and improve motor behavior in the beta-hexosaminidase (Hexb) knockout (-/-) murine model of Sandhoff disease. "
9.	Hexosaminidases (Hexosaminidase)IBA 01/01/2014 - "GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB. " 01/01/2013 - "Sandhoff disease (SD) is a glycosphingolipid storage disease that arises from mutations in the Hexb gene and the resultant deficiency in β-hexosaminidase activity. " 01/01/2012 - "Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation." 06/01/2011 - "Enzymatic assays objectified a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease." 12/01/2009 - "Juvenile Sandhoff disease was diagnosed on the basis of a decreased hexosaminidase activity in leukocytes and a homozygous HEXB gene mutation. "
10.	G(M2) Ganglioside (Ganglioside GM2)IBA 05/01/2015 - "The storage of BMP and ganglioside GM2 in brain were reduced similarly following adeno-associated viral-mediated gene therapy in Sandhoff disease mice. " 08/01/2010 - "NgHexA was more efficiently taken up than the wild-type HexA and delivered to lysosomes, where it degraded accumulated substrates including GM2 ganglioside (GM2) when administered to cultured fibroblasts derived from a Sandhoff disease (SD) patient. " 01/01/2001 - "Sandhoff disease is a lysosomal storage disorder characterized by G(M2) ganglioside accumulation in the central nervous system (CNS) and periphery. " 06/11/1996 - "Thus, mutations in either gene encoding its alpha or beta subunits can result in GM2 ganglioside storage and Tay-Sachs or Sandhoff disease, respectively. " 09/26/2000 - "Bone marrow transplantation of Sandhoff disease mice suppressed both the explosive expansion of activated microglia and the neuronal cell death without detectable decreases in neuronal G(M2) ganglioside storage. "

Therapies and Procedures

1.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/2001 - "Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation." 09/26/2000 - "Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation." 05/01/1998 - "Bone marrow transplantation (BMT) was examined as a potential treatment for these disorders using a Sandhoff disease mouse model. " 05/01/1998 - "Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice." 01/01/2001 - "Bone marrow transplantation (BMT), which augments enzyme levels, and substrate deprivation (using the glycosphingolipid biosynthesis inhibitor N-butyldeoxynojirimycin [NB-DNJ]) independently have been shown to extend life expectancy in a mouse model of Sandhoff disease. "
2.	Caloric Restriction 05/01/2006 - "Influence of caloric restriction on motor behavior, longevity, and brain lipid composition in Sandhoff disease mice." 03/01/2015 - "Previous studies have revealed that caloric restriction in combination with miglustat increased survival and motor behavior in mouse model of Sandhoff disease. " 05/01/2006 - "Caloric restriction (CR), which improves health and increases longevity, was studied as a therapy in a hexosaminidase beta knockout mouse model of Sandhoff disease (SD), an incurable neurodegenerative disease involving accumulation of brain ganglioside GM2 and asialo-GM2 (GA2). " 06/01/2010 - "Previous studies showed that caloric restriction, which augments longevity, and N-butyldeoxynojirimycin (NB-DNJ, Miglustat), an imino sugar that hinders the glucosyltransferase catalyzing the first step in glycosphingolipid biosynthesis, both increase longevity and improve motor behavior in the beta-hexosaminidase (Hexb) knockout (-/-) murine model of Sandhoff disease. "
3.	Transplantation (Transplant Recipients) 04/01/2007 - "Intracranial transplantation of neural stem cells (NSCs) delayed disease onset, preserved motor function, reduced pathology and prolonged survival in a mouse model of Sandhoff disease, a lethal gangliosidosis. " 01/01/2010 - "The potential applications for NSC transplantations to treat both isolated and global neurodysfunction in humans are innumerable; these prospects include inherited pediatric neurodegenerative and metabolic disorders such as lysosomal storage diseases including leukodystrophies, Sandhoff disease, hypoxic-ischemic encephalopathy and adult CNS disorders characterized by neuronal or glial cell loss such as Parkinson's disease, multiple sclerosis, stroke and spinal cord injury." 04/01/2008 - "The goal of this study was to develop a tandem mass spectrometry (MS/MS) method for the simultaneous measurement of both GM1 and GM2 gangliosides in human cerebrospinal fluid (CSF) samples in order to be able to determine their concentrations in patients with Tay-Sachs and Sandhoff disease and assess whether drugs or transplantation affect their concentrations. "
4.	Ketogenic Diet 06/01/2010 - "Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice." 03/01/2015 - "Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease."
5.	Enzyme Replacement Therapy 06/01/2011 - "To develop a novel enzyme replacement therapy for neurodegenerative Tay-Sachs disease (TSD) and Sandhoff disease (SD), which are caused by deficiency of β-hexosaminidase (Hex) A, we designed a genetically engineered HEXB encoding the chimeric human β-subunit containing partial amino acid sequence of the α-subunit by structure-based homology modeling. "