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.
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| "Sandhoff disease is a lysosomal storage disorder characterized by accumulation of GM2 ganglioside due to mutations in the beta-chain of beta-hexosaminidase." | ( Baas, F; Bikker, H; Bolhuis, PA; Ponne, NJ; Vianney de Jong, JM, 1993) |
| "Tay-Sachs and Sandhoff diseases are autosomal recessive neurodegenerative diseases resulting from the inability to catabolize GM2 ganglioside by beta-hexosaminidase A (Hex A) due to mutations of the alpha subunit (Tay-Sachs disease) or beta subunit (Sandhoff disease) of Hex A." | ( Gravel, RA; Hanal, N; Huang, JQ; Igdoura, S; Michaud, J; Trasler, JM, 1997) |
| "Sandhoff disease is caused by abnormalities in HEXB gene encoding the beta-subunit of beta-hexosaminidase." | ( Anastasiadou, V; Christopoulos, G; Drousiotou, A; Furihata, K; Hara, Y; Ioannou, P; Stylianidou, G; Ueno, I, 1999) |
| "Sandhoff disease is a neurodegenerative disorder resulting from the autosomal recessive inheritance of mutations in the HEXB gene, which encodes the beta-subunit of beta-hexosaminidase." | ( Butters, TD; Cortina-Borja, M; Dwek, RA; Hunnam, V; Jeyakumar, M; Perry, VH; Platt, FM; Proia, RL, 1999) |
| "Sandhoff disease is a lysosomal storage disorder characterized by G(M2) ganglioside accumulation in the central nervous system (CNS) and periphery." | ( Butters, TD; Cortina-Borja, M; Dwek, RA; Jeyakumar, M; Norflus, F; Perry, VH; Platt, FM; Proia, RL; Tifft, CJ, 2001) |
| "Sandhoff disease is a heritable lysosomal storage disease resulting from impaired degradation of GM2 ganglioside and related substrates." | ( Ajiki, K; Sango, K; Tokashiki, A; Watabe, K; Yamanaka, S, 2002) |
| "Tay-Sachs and Sandhoff diseases are lysosomal storage disorders characterized by the absence of beta-hexosaminidase activity and the accumulation of GM2 ganglioside in neurons." | ( Lawson, D; Mi, Y; Mizukami, H; Myerowitz, R; Proia, RL; Tifft, CJ, 2002) |
| "Sandhoff disease is a severe neurodegenerative disorder with visceral involvement caused by mutations in the HEXB gene coding for the beta subunit of the lysosomal hexosaminidases A and B." | ( Aoki, I; Katsuyama, K; Kosaka, K; Suzuki, K; Yamaguchi, A; Yamanaka, S, 2003) |
| "Sandhoff disease is a severe inherited neurodegenerative disorder resulting from deficiency of the beta-subunit of hexosaminidases A and B, lysosomal hydrolases involved in the degradation of G(M2) ganglioside and related metabolites." | ( Bourgoin, C; Caillaud, C; Drugan, C; Emiliani, C; Gelot, A; Gravel, RA; Kremer, EJ; Orlacchio, A; Poenaru, L; Tancini, B, 2003) |
| "Tay-Sachs and Sandhoff diseases are lysosomal storage disorders that result from an inherited deficiency of beta-hexosaminidase A (alphabeta)." | ( Guiral, M; Mahuran, D; Reid, SP; Tropak, MB; Withers, SG, 2004) |
| "Sandhoff disease is a progressive neurodegenerative disorder caused by mutations in the HEXB gene which encodes for the beta-subunit of beta-hexosaminidase A and B, resulting in ganglioside GM(2) accumulation in the brain." | ( Bodennec, J; Buccoliero, R; Futerman, AH; Sandhoff, K; Van Echten-Deckert, G, 2004) |
| "Sandhoff disease is a severe neurodegenerative glycosphingolipid (GSL) lysosomal storage disorder, currently without treatment options." | ( Andersson, U; Borja, MC; Butters, TD; Dwek, RA; Jeyakumar, M; Platt, FM; Smith, D, 2004) |
| "Sandhoff disease is caused by the defective activity of the lysosomal enzyme beta-hexosaminidase, resulting in accumulation of the glycolipids, GA2 and GM2." | ( Buccoliero, R; Futerman, AH; Ginzburg, L, 2004) |
| "Sandhoff disease is a lysosomal storage disease caused by simultaneous deficiencies of beta-hexosaminidase A (HexA; alphabeta) and B (HexB; betabeta), due to a primary defect of the beta-subunit gene (HEXB) associated with excessive accumulation of GM2 ganglioside (GM2) and oligosaccharides with N-acetylhexosamine residues at their non-reducing termini, and with neurosomatic manifestations." | ( Ishibashi, Y; Itakura, T; Itoh, K; Kuroki, A; Kuwahara, J; Tsuji, D; Yamanaka, S, 2005) |
| "Sandhoff disease is an autosomal recessive neurodegenerative disease characterized by a GM2 ganglioside intralysosomal accumulation." | ( Arfi, A; Basso, L; Bourgoin, C; Caillaud, C; Chigorno, V; Emiliani, C; Li, YT; Orlacchio, A; Poenaru, L; Sonnino, S; Tancini, B, 2005) |
| "Sandhoff disease is an autosomal recessive lysosomal storage disease caused by a defect of the beta-subunit gene (HEXB) associated with simultaneous deficiencies of beta-hexosaminidase A (HexA; alphabeta) and B (HexB; betabeta), and excessive accumulation of GM2 ganglioside (GM2) and oligosaccharides with N-acetylglucosamine (GlcNAc) residues at their non-reducing termini." | ( Ishibashi, Y; Itakura, T; Itoh, K; Kuroki, A; Tsuji, D, 2005) |
| "Sandhoff disease is an autosomal recessive lysosomal disorder due to mutations in the beta-hexosaminidase beta-chain gene, resulting in beta-hexosaminidases A (alphabeta) and B (betabeta) deficiency and GM2 ganglioside accumulation in the brain." | ( Arfi, A; Batista, L; Caillaud, C; Clave, C; Couraud, PO; Douillard-Guilloux, G; Miller, F, 2010) |
| "Sandhoff disease is an autosomal recessive, neurodegenerative disease involving the storage of brain ganglioside GM2 and asialo-GM2." | ( Baek, RC; Bronson, RT; Butters, TD; Denny, CA; Heinecke, KA; Kim, YP; Loh, KS; Platt, FM; Seyfried, TN, 2010) |
| "Tay-Sachs and Sandhoff diseases are lethal inborn errors of acid β-N-acetylhexosaminidase activity, characterized by lysosomal storage of GM2 ganglioside and related glycoconjugates in the nervous system." | ( Apostolakis, AA; Cachón-González, MB; Cox, TM; Drage, DJ; Sargeant, TJ; Wang, S, 2012) |
| "Sandhoff disease is an autosomal recessive inherited disorder resulting from β-hexosaminidase deficiency and characterized by large accumulation of GM2 ganglioside in brain." | ( Aureli, M; Bassi, R; Caillaud, C; Chiricozzi, E; Emiliani, C; Loberto, N; Magini, A; Niemir, N; Polchi, A; Prinetti, A; Sonnino, S, 2014) |
| "Sandhoff disease is a progressive neurodegenerative disorder characterized by accumulation of GM2 gangliosides." | ( Hopkin, RJ; Hufnagel, SB; Jefferies, JL; Karl, G; Pabón, LA; Prada, CE; Serrano, NC; Villamizar-Schiller, IT, 2015) |