Sachs B, Strauss I. THE CELL CHANGES IN AMAUROTIC FAMILY IDIOCY. J Exp Med. 1910 Sep 1; 12(5): 685–95. DOI: https://doi.org/10.1084/jem.12.5.685
Friedland J, Schneck L, Saifer A, Pourfar M, Volk BW. Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis. Clin Chim Acta. 1970 Jun; 28(3): 397–402. DOI: https://doi.org/10.1016/0009-8981(70)90064-1
Arpaia E, Dumbrille-Ross A, Maler T, Neote K, Tropak M, Troxel C, et al. Identification of an altered splice site in Ashkenazi Tay-Sachs disease. Nature. 1988 May 5; 333(6168): 85–6. DOI: https://doi.org/10.1038/333085a0
Korneluk RG, Mahuran DJ, Neote K, Klavins MH, O’Dowd BF, Tropak M, et al. Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease. J Biol Chem. 1986 Jun 25; 261(18): 8407–13. DOI: https://doi.org/10.1016/S0021-9258(19)83927-3
Navon R, Padeh B, Adam A. Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease. Am J Hum Genet. 1973 May; 25(3): 287–93.
Charrow J, Inui K, Wenger DA. Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity. Clin Genet. 1985 Jan; 27(1): 78–84. DOI: https://doi.org/10.1111/j.1399-0004.1985.tb00188.x
Taniike M, Yamanaka S, Proia RL, Langaman C, Bone-Turrentine T, Suzuki K. Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease. Acta Neuropathol. 1995; 89(4): 296–304. DOI: https://doi.org/10.1007/BF00309622
Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 2014 Jan; 133(1): 1–9. DOI: https://doi.org/10.1007/s00439-013-1358-4
Maegawa GHB, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, et al. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics. 2006 Nov; 118(5): e1550–1562. DOI: https://doi.org/10.1542/peds.2006-0588
Gross SJ, Pletcher BA, Monaghan KG, Professional Practice and Guidelines Committee. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008 Jan; 10(1): 54–6. DOI: https://doi.org/10.1097/GIM.0b013e31815f247c
Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med. 2005 Feb; 7(2): 119–23. DOI: https://doi.org/10.1097/01.GIM.0000154300.84107.75
Solovyeva VV, Shaimardanova AA, Chulpanova DS, Kitaeva KV, Chakrabarti L, Rizvanov AA. New Approaches to Tay-Sachs Disease Therapy. Front Physiol. 2018; 9: 1663. DOI: https://doi.org/10.3389/fphys.2018.01663
Barritt AW, Anderson SJ, Leigh PN, Ridha BH. Late-onset Tay-Sachs disease. Pract Neurol. 2017 Oct; 17(5): 396–9. DOI: https://doi.org/10.1136/practneurol-2017-001665
Godeiro-Junior C, Felicio AC, Benites V, Chieia MA, Oliveira ASB. Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis. Arq Neuropsiquiatr. 2009 Mar; 67(1): 105–6. DOI: https://doi.org/10.1590/S0004-282X2009000100024
Johnson WG, Wigger HJ, Karp HR, Glaubiger LM, Rowland LP. Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype. Ann Neurol. 1982 Jan; 11(1): 11–6. DOI: https://doi.org/10.1002/ana.410110103
Karni A, Navon R, Sadeh M. Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset. Ann Neurol. 1988 Sep; 24(3): 451–3. DOI: https://doi.org/10.1002/ana.410240316
Hund E, Grau A, Fogel W, Forsting M, Cantz M, Kustermann-Kuhn B, et al. Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings. J Neurol Sci. 1997 Jan; 145(1): 25–31. DOI: https://doi.org/10.1016/S0022-510X(96)00233-X
Mitsumoto H, Sliman RJ, Schafer IA, Sternick CS, Kaufman B, Wilbourn A, et al. Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration. Ann Neurol. 1985 Apr; 17(4): 378–85. DOI: https://doi.org/10.1002/ana.410170413
Deik A, Saunders-Pullman R. Atypical presentation of late-onset Tay-Sachs disease. Muscle Nerve. 2014 May; 49(5): 768–71. DOI: https://doi.org/10.1002/mus.24146
Peters AS, Markovic K, Schramm A, Schwab S, Heuss D. Late onset hexosaminidase A deficiency in a young adult. Eur J Neurol. 2008 Jul; 15(7): e70–71; author reply e72–73. DOI: https://doi.org/10.1111/j.1468-1331.2008.02170.x
Jamrozik Z, Lugowska A, Gołębiowski M, Królicki L, Mączewska J, Kuźma-Kozakiewicz M. Late onset GM2 gangliosidosis mimicking spinal muscular atrophy. Gene. 2013 Sep 25; 527(2): 679–82. DOI: https://doi.org/10.1016/j.gene.2013.06.030
Renshaw PF, Stern TA, Welch C, Schouten R, Kolodny EH. Electroconvulsive therapy treatment of depression in a patient with adult GM2 gangliosidosis. Ann Neurol. 1992 Mar; 31(3): 342–4. DOI: https://doi.org/10.1002/ana.410310320
Navon R, Argov Z, Frisch A. Hexosaminidase A deficiency in adults. Am J Med Genet. 1986 May; 24(1): 179–96. DOI: https://doi.org/10.1002/ajmg.1320240123
Parnes S, Karpati G, Carpenter S, Kin NM, Wolfe LS, Suranyi L. Hexosaminidase-A deficiency presenting as atypical juvenile-onset spinal muscular atrophy. Arch Neurol. 1985 Dec; 42(12): 1176–80. DOI: https://doi.org/10.1001/archneur.1985.04060110058016
Argov Z, Navon R. Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency. Ann Neurol. 1984 Jul; 16(1): 14–20. DOI: https://doi.org/10.1002/ana.410160105
Kaback MM. Screening for reproductive counseling: social, ethical, and medicolegal issues in the Tay-Sachs disease experience. Prog Clin Biol Res. 1982; 103 Pt B: 447–59.
Rozenberg R, Pereira L da V. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program. Sao Paulo Med J. 2001 Jul 5; 119(4): 146–9. DOI: https://doi.org/10.1590/S1516-31802001000400007
Jahnová H, Poupětová H, Jirečková J, Vlášková H, Košťálová E, Mazanec R, et al. Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease. J Neurol. 2019 Aug; 266(8): 1953–9. DOI: https://doi.org/10.1007/s00415-019-09364-3
Gudesblatt M, Ludman MD, Cohen JA, Desnick RJ, Chester S, Grabowski GA, et al. Hexosaminidase A activity and amyotrophic lateral sclerosis. Muscle Nerve. 1988 Mar; 11(3): 227–30. DOI: https://doi.org/10.1002/mus.880110307
Michelakakis H, Papadimitriou A, Divaris R, Mavridou I, Dimitriou E. Plasma lysosomal enzyme levels in patients with motor neuron disease. J Inherit Metab Dis. 1995; 18(1): 72–4. DOI: https://doi.org/10.1007/BF00711376
Drory VE, Birnbaum M, Peleg L, Goldman B, Korczyn AD. Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis. Muscle Nerve. 2003 Jul; 28(1): 109–12. DOI: https://doi.org/10.1002/mus.10371
MacQueen GM, Rosebush PI, Mazurek MF. Neuropsychiatric aspects of the adult variant of Tay-Sachs disease. J Neuropsychiatry Clin Neurosci. 1998; 10(1): 10–9. DOI: https://doi.org/10.1176/jnp.10.1.10
Saleh O. Late Onset Tay-Sachs Disease Presenting as a Brief Psychotic Disorder with Catatonia: A Case Report and Review of the Literature. Jefferson Journal of Psychiatry: [Internet]. 15(1, Article 4). Available from: https://jdc.jefferson.edu/jeffjpsychiatry/vol15/iss1/4. DOI: https://doi.org/10.29046/JJP.015.1.006
Johnson WG. The clinical spectrum of hexosaminidase deficiency diseases. Neurology. 1981 Nov; 31(11): 1453–6. DOI: https://doi.org/10.1212/WNL.31.11.1453
Hurowitz GI, Silver JM, Brin MF, Williams DT, Johnson WG. Neuropsychiatric aspects of adult-onset Tay-Sachs disease: two case reports with several new findings. J Neuropsychiatry Clin Neurosci. 1993; 5(1): 30–6. DOI: https://doi.org/10.1176/jnp.5.1.30
Stendel C, Gallenmüller C, Peters K, Bürger F, Gramer G, Biskup S, et al. Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene. J Neurol. 2015; 262(4): 1072–3. DOI: https://doi.org/10.1007/s00415-015-7729-0
Barone R, Sturiale L, Fiumara A, Palmigiano A, Bua RO, Rizzo R, et al. CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder. Autism Res. 2016 Apr; 9(4): 423–8. DOI: https://doi.org/10.1002/aur.1541
Navon R, Proia RL. The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. Science. 1989 Mar 17; 243(4897): 1471–4. DOI: https://doi.org/10.1126/science.2522679
Lichtenberg P, Navon R, Wertman E, Dasberg H, Lerer B. Post-partum psychosis in adult GM2 gangliosidosis. A case report. Br J Psychiatry. 1988 Sep; 153: 387–9. DOI: https://doi.org/10.1192/bjp.153.3.387
Willner JP, Grabowski GA, Gordon RE, Bender AN, Desnick RJ. Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases. Neurology. 1981 Jul; 31(7): 787–98. DOI: https://doi.org/10.1212/WNL.31.7.787
Rapin I, Suzuki K, Suzuki K, Valsamis MP. Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship. Arch Neurol. 1976 Feb; 33(2): 120–30. DOI: https://doi.org/10.1001/archneur.1976.00500020048008
Steiner KM, Brenck J, Goericke S, Timmann D. Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations. BMJ Case Rep. 2016 Mar 31; 2016: bcr2016214634. DOI: https://doi.org/10.1136/bcr-2016-214634
Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH. Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med. 2009 Jun; 11(6): 425–33. DOI: https://doi.org/10.1097/GIM.0b013e3181a1b5c5
Grim KK, Phillips GD, Renner DR. Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings. Mov Disord Clin Pract. 2015 Sep; 2(3): 289–90. DOI: https://doi.org/10.1002/mdc3.12194
Rucker JC, Shapiro BE, Han YH, Kumar AN, Garbutt S, Keller EL, et al. Neuro-ophthalmology of late-onset Tay-Sachs disease (LOTS). Neurology. 2004 Nov 23; 63(10): 1918–26. DOI: https://doi.org/10.1212/01.WNL.0000144275.76658.F4
De Gasperi R, Gama Sosa MA, Battistini S, Yeretsian J, Raghavan S, Zelnik N, et al. Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-–>His) in the Hex A alpha-chain gene. Neurology. 1996 Aug; 47(2): 547–52. DOI: https://doi.org/10.1212/WNL.47.2.547
Harding AE, Young EP, Schon F. Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome. J Neurol Neurosurg Psychiatry. 1987 Jun; 50(6): 687–90. DOI: https://doi.org/10.1136/jnnp.50.6.687
Barnes D, Misra VP, Young EP, Thomas PK, Harding AE. An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia. J Neurol Neurosurg Psychiatry. 1991 Dec; 54(12): 1112–3. DOI: https://doi.org/10.1136/jnnp.54.12.1112
Oates CE, Bosch EP, Hart MN. Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature. Eur Neurol. 1986; 25(2): 154–9. DOI: https://doi.org/10.1159/000116100
Shapiro BE, Logigian EL, Kolodny EH, Pastores GM. Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle Nerve. 2008 Aug; 38(2): 1012–5. DOI: https://doi.org/10.1002/mus.21061
Inzelberg R, Korczyn AD. Parkinsonism in adult-onset GM2 gangliosidosis. Mov Disord. 1994 May; 9(3): 375–7. DOI: https://doi.org/10.1002/mds.870090325
Jellinger K, Anzil AP, Seemann D, Bernheimer H. Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. Clin Neuropathol. 1982; 1(1): 31–44.
Rapin I. Myoclonus in neuronal storage and Lafora diseases. Adv Neurol. 1986; 43: 65–85.
Rubin M, Karpati G, Wolfe LS, Carpenter S, Klavins MH, Mahuran DJ. Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency. J Neurol Sci. 1988 Oct; 87(1): 103–19. DOI: https://doi.org/10.1016/0022-510X(88)90058-5
Mahuran DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999 Oct 8; 1455(2–3): 105–38. DOI: https://doi.org/10.1016/S0925-4439(99)00074-5
Platt FM, d’Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primers. 2018 Oct 1; 4(1): 27. DOI: https://doi.org/10.1038/s41572-018-0025-4
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