메뉴 건너뛰기




Volumn 63, Issue 10, 2004, Pages 1918-1926

Neuro-ophthalmology of late-onset Tay-Sachs disease (LOTS)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANTERIOR HORN CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINOCULAR CONVERGENCE; CEREBELLUM; CLINICAL ARTICLE; COLOR VISION; CONTRAST SENSITIVITY; DISEASE DURATION; DYSMETRIA; EYE FUNDUS; EYE MOVEMENT; EYE TRACKING; FEMALE; GAZE; GM2 GANGLIOSIDOSIS; HUMAN; LATE ONSET TAY SACHS DISEASE; MALE; NEUROOPHTHALMOLOGY; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; SMOOTH PURSUIT EYE MOVEMENT; STEREOSCOPIC VISION; TAY SACHS DISEASE; VESTIBULOOCULAR REFLEX; VISUAL ACUITY; VISUAL FIELD;

EID: 8844254599     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000144275.76658.F4     Document Type: Article
Times cited : (53)

References (50)
  • 2
    • 0021045849 scopus 로고
    • The Tay-Sachs disease gene in North American Jewish populations: Geographic variations and origin
    • Petersen GM, Rotter JI, Cantor RM, et al. The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin. Am J Hum Genet 1983;35:1258-1269.
    • (1983) Am J Hum Genet , vol.35 , pp. 1258-1269
    • Petersen, G.M.1    Rotter, J.I.2    Cantor, R.M.3
  • 3
    • 0026015899 scopus 로고
    • Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers
    • Grebner EE, Tomczak J. Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers. Am J Hum Genet 1991;48:604-607.
    • (1991) Am J Hum Genet , vol.48 , pp. 604-607
    • Grebner, E.E.1    Tomczak, J.2
  • 4
    • 0036403765 scopus 로고    scopus 로고
    • An inducible mouse model of late onset Tay-Sachs disease
    • Jeyakumar M, Smith D, Eliott-Smith E, et al. An inducible mouse model of late onset Tay-Sachs disease. Neurobiol Dis 2002;10:201-210.
    • (2002) Neurobiol Dis , vol.10 , pp. 201-210
    • Jeyakumar, M.1    Smith, D.2    Eliott-Smith, E.3
  • 5
    • 0017636756 scopus 로고
    • Genetic variants of Tay-Sachs disease and Sandhoffs disease in French-Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population
    • Kaback MM, Rimoin DL, O'Brien JS, eds. New York: Liss
    • Andermann E, Scriver CR, Wolfe LS, et al. Genetic variants of Tay-Sachs disease and Sandhoffs disease in French-Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population. In: Kaback MM, Rimoin DL, O'Brien JS, eds. Tay-Sachs disease: screening and prevention. New York: Liss, 1977:161-168.
    • (1977) Tay-Sachs Disease: Screening and Prevention , pp. 161-168
    • Andermann, E.1    Scriver, C.R.2    Wolfe, L.S.3
  • 6
    • 0017186975 scopus 로고
    • Characterization of heteropolymeric hexosaminidase A in human X mouse hybrid cells
    • Chern CJ, Beutler E, Kuhl W, et al. Characterization of heteropolymeric hexosaminidase A in human X mouse hybrid cells. Proc Natl Acad Sci USA 1976;73:3637-3640.
    • (1976) Proc Natl Acad Sci USA , vol.73 , pp. 3637-3640
    • Chern, C.J.1    Beutler, E.2    Kuhl, W.3
  • 7
    • 0024259857 scopus 로고
    • The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase
    • Myerowitz R, Costigan FC. The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. J Bioll Chem 1988;263:18587-18589.
    • (1988) J Bioll Chem , vol.263 , pp. 18587-18589
    • Myerowitz, R.1    Costigan, F.C.2
  • 8
    • 0025365160 scopus 로고
    • Screening for carriers of Tay-Sachs disease among Ashkenzi Jews: A comparison of DNA-based and enzyme-based tests
    • Triggs-Raine BL, Feigenbaum AS, Natowicz M, et al. Screening for carriers of Tay-Sachs disease among Ashkenzi Jews: a comparison of DNA-based and enzyme-based tests. N Engl J Med 1990;323:6-12.
    • (1990) N Engl J Med , vol.323 , pp. 6-12
    • Triggs-Raine, B.L.1    Feigenbaum, A.S.2    Natowicz, M.3
  • 9
    • 0024512987 scopus 로고
    • The mutation in Ashkenazi Jews with adult GM2 gangliosidoses, the adult form of Tay-Sachs disease
    • Navon R, Proia RL. The mutation in Ashkenazi Jews with adult GM2 gangliosidoses, the adult form of Tay-Sachs disease. Science 1989;243:1471-1474.
    • (1989) Science , vol.243 , pp. 1471-1474
    • Navon, R.1    Proia, R.L.2
  • 10
    • 0024546980 scopus 로고
    • Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: Substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase
    • Paw BH, Kaback MM, Neufeld EF. Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase. Proc Natl Acad Sci USA 1989;86:2413-2417.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2413-2417
    • Paw, B.H.1    Kaback, M.M.2    Neufeld, E.F.3
  • 11
    • 0025272026 scopus 로고
    • Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect
    • Navon R, Kolodny EH, Mitsumoto H, et al. Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect. Am J Hum Genet 1990;46:817-821.
    • (1990) Am J Hum Genet , vol.46 , pp. 817-821
    • Navon, R.1    Kolodny, E.H.2    Mitsumoto, H.3
  • 12
    • 0027442083 scopus 로고
    • Beta-hexosaminidase isozymes from cells co-transfected with alpha and beta cDNA constructs: Analysis of the alpha subunit missense mutation associated with the adult form of Tay-Sachs disease
    • Brown CA, Mahuran DJ. Beta-hexosaminidase isozymes from cells co-transfected with alpha and beta cDNA constructs: analysis of the alpha subunit missense mutation associated with the adult form of Tay-Sachs disease. Am J Hum Genet 1993;53:497-508.
    • (1993) Am J Hum Genet , vol.53 , pp. 497-508
    • Brown, C.A.1    Mahuran, D.J.2
  • 13
    • 0021216523 scopus 로고
    • Faulty association of alpha and beta-subunits in some forms of beta-hexosaminidase A deficiency
    • d'Azzo A, Proia RL, Kolodny EH, et al. Faulty association of alpha and beta-subunits in some forms of beta-hexosaminidase A deficiency. J Biol Chem 1984;259:11070-11074.
    • (1984) J Biol Chem , vol.259 , pp. 11070-11074
    • D'Azzo, A.1    Proia, R.L.2    Kolodny, E.H.3
  • 14
    • 0025124545 scopus 로고
    • The juvenile and chronic forms of GM2 gangliosidosis: Clinical and enzymatic heterogeneity
    • Specola N, Vanier MT, Goutieres F, et al. The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity. Neurology 1990;40:145-150.
    • (1990) Neurology , vol.40 , pp. 145-150
    • Specola, N.1    Vanier, M.T.2    Goutieres, F.3
  • 15
    • 0016919076 scopus 로고
    • Adult (chronic) GM2 gangliosidosis: Atypical spinocerebellar degeneration in a Jewish sibship
    • Rapin I, Suzuki K, Suzuki K, Valsamis MP. Adult (chronic) GM2 gangliosidosis: atypical spinocerebellar degeneration in a Jewish sibship. Arch Neurol 1976;33:120-130.
    • (1976) Arch Neurol , vol.33 , pp. 120-130
    • Rapin, I.1    Suzuki, K.2    Suzuki, K.3    Valsamis, M.P.4
  • 17
    • 0030937222 scopus 로고    scopus 로고
    • Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: Hexosaminidase A deficiency with late clinical onset in four siblings
    • Hund E, Grau A, Fogel W, 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;145:25-31.
    • (1997) J Neurol Sci , vol.145 , pp. 25-31
    • Hund, E.1    Grau, A.2    Fogel, W.3
  • 18
    • 0001563830 scopus 로고    scopus 로고
    • The GM2 gangliosidoses
    • Rosenberg RN, Prusiner SB, DiMauro S, Barchi RI, eds. Boston: Butterworth-Heinemann
    • Kolodny EH. The GM2 gangliosidoses. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RI, eds. The molecular and genetic basis of neurological disease. 2nd ed. Boston: Butterworth-Heinemann, 1997:473-490.
    • (1997) The Molecular and Genetic Basis of Neurological Disease. 2nd Ed. , pp. 473-490
    • Kolodny, E.H.1
  • 19
    • 0035225405 scopus 로고    scopus 로고
    • Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews
    • Navon R. Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews. Adv Genet 2001;44:185-197.
    • (2001) Adv Genet , vol.44 , pp. 185-197
    • Navon, R.1
  • 21
    • 0021270792 scopus 로고
    • Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency
    • Argov Z, Navon R. Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency. Ann Neurol 1984;16:14-20.
    • (1984) Ann Neurol , vol.16 , pp. 14-20
    • Argov, Z.1    Navon, R.2
  • 22
    • 0019394214 scopus 로고
    • Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: Clinical, morphologic, and biochemical studies of nine cases
    • Willner JP, Grabowski GA, Gordon RE, et al. Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases. Neurology 1981;31:787-798.
    • (1981) Neurology , vol.31 , pp. 787-798
    • Willner, J.P.1    Grabowski, G.A.2    Gordon, R.E.3
  • 23
    • 0023215942 scopus 로고
    • Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: Another hexosaminidase A deficiency syndrome
    • 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;50:687-690.
    • (1987) J Neurol Neurosurg Psychiatry , vol.50 , pp. 687-690
    • Harding, A.E.1    Young, E.P.2    Schon, F.3
  • 24
    • 0026340884 scopus 로고
    • An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuelear ophthalmoplegia
    • Barnes D, Misra VP, Young EP. et al. An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuelear ophthalmoplegia. J Neurol Neurosurg Psychiatry 1991;54:1112-1113.
    • (1991) J Neurol Neurosurg Psychiatry , vol.54 , pp. 1112-1113
    • Barnes, D.1    Misra, V.P.2    Young, E.P.3
  • 25
    • 0030210906 scopus 로고    scopus 로고
    • Late onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180 → His) in the Hex A alpha-chain gene
    • DeGasperi R, GamaSosa MA, Battistini S, 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;47:547-552.
    • (1996) Neurology , vol.47 , pp. 547-552
    • DeGasperi, R.1    GamaSosa, M.A.2    Battistini, S.3
  • 27
    • 0036233783 scopus 로고    scopus 로고
    • The Neurobiology of eye movements-from molecules to behavior
    • Kaminski HJ, Leigh RJ, eds. The neurobiology of eye movements-from molecules to behavior. Ann NY Acad Sci 2002;956:1-615.
    • (2002) Ann NY Acad Sci , vol.956 , pp. 1-615
    • Kaminski, H.J.1    Leigh, R.J.2
  • 28
    • 1542316147 scopus 로고    scopus 로고
    • Using saccades as a research tool in the clinical neurosciences
    • Leigh RJ, Kennard C. Using saccades as a research tool in the clinical neurosciences. Brain 2004;127:1-18.
    • (2004) Brain , vol.127 , pp. 1-18
    • Leigh, R.J.1    Kennard, C.2
  • 31
    • 0033032324 scopus 로고    scopus 로고
    • Conjugate ocular oscillations during shifts of the direction and depth of visual fixation
    • Ramat S, Somers JT, Das VE, Leigh RJ. Conjugate ocular oscillations during shifts of the direction and depth of visual fixation. Invest Ophthalmol Vis Sci 1999;40:1681-1686.
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 1681-1686
    • Ramat, S.1    Somers, J.T.2    Das, V.E.3    Leigh, R.J.4
  • 32
    • 1942470471 scopus 로고    scopus 로고
    • Evaluating small eye movements in patients with saccadic palsies
    • Garbutt S, Harwood M, Kumar A, Han Y, Leigh R. Evaluating small eye movements in patients with saccadic palsies. Ann NY Acad Soc 2003;1004:337-346.
    • (2003) Ann NY Acad Soc , vol.1004 , pp. 337-346
    • Garbutt, S.1    Harwood, M.2    Kumar, A.3    Han, Y.4    Leigh, R.5
  • 35
    • 0021885022 scopus 로고
    • The cherry-red spot in Tay-Sachs and other storage diseases
    • Kivlin JD, Sanborn GE, Myers GG. The cherry-red spot in Tay-Sachs and other storage diseases. Ann Neurol 1985;17:356-360.
    • (1985) Ann Neurol , vol.17 , pp. 356-360
    • Kivlin, J.D.1    Sanborn, G.E.2    Myers, G.G.3
  • 37
    • 0029101426 scopus 로고    scopus 로고
    • Histological identification of premotor neurons for horizontal saccades in monkey and man by parvalbumin immunostaining
    • Horn AKE, Büttner-Ennever JA, Suzuki Y, Henn V. Histological identification of premotor neurons for horizontal saccades in monkey and man by parvalbumin immunostaining. J Comp Neurol 1997;359:350-363.
    • (1997) J Comp Neurol , vol.359 , pp. 350-363
    • Horn, A.K.E.1    Büttner-Ennever, J.A.2    Suzuki, Y.3    Henn, V.4
  • 38
    • 0032536588 scopus 로고    scopus 로고
    • Premotor neurons for vertical eye-movements in the rostral mesencephalon of monkey and man: The histological identification by parvalbumin immunostaining
    • Horn AKE, Büttner-Ennever JA. Premotor neurons for vertical eye-movements in the rostral mesencephalon of monkey and man: the histological identification by parvalbumin immunostaining. J Comp Neurol 1998;392:413-427.
    • (1998) J Comp Neurol , vol.392 , pp. 413-427
    • Horn, A.K.E.1    Büttner-Ennever, J.A.2
  • 39
    • 0019831397 scopus 로고
    • A quantitative analysis of generation of saccadic eye movements by burst neurons
    • van Gisbergen JAM, Robinson DA, Gielen S. A quantitative analysis of generation of saccadic eye movements by burst neurons. J Neurophysiol 1981;45:417-442.
    • (1981) J Neurophysiol , vol.45 , pp. 417-442
    • Van Gisbergen, J.A.M.1    Robinson, D.A.2    Gielen, S.3
  • 40
    • 0023851802 scopus 로고
    • Raphe nucleus of pons containing omnipause neurons of the oculomotor system in the monkey, and its homologue in man
    • Büttner-Ennever JA, Cohen B, Pause M, Fries W. Raphe nucleus of pons containing omnipause neurons of the oculomotor system in the monkey, and its homologue in man. J Comp Neurol 1988;267:307-321.
    • (1988) J Comp Neurol , vol.267 , pp. 307-321
    • Büttner-Ennever, J.A.1    Cohen, B.2    Pause, M.3    Fries, W.4
  • 41
    • 0028353885 scopus 로고
    • Neurotransmitter profile of saccadic omnipause neurons in nucleus raphe interpositus
    • Horn AKE, Büttner-Ennever JA, Wahle P, Reichenberger I. Neurotransmitter profile of saccadic omnipause neurons in nucleus raphe interpositus. J Neurosci 1994;14:2032-2046.
    • (1994) J Neurosci , vol.14 , pp. 2032-2046
    • Horn, A.K.E.1    Büttner-Ennever, J.A.2    Wahle, P.3    Reichenberger, I.4
  • 42
    • 3042721782 scopus 로고    scopus 로고
    • Pivotal role of orbital connective tissues in binocular alignment and strabismus
    • Demer JL. Pivotal role of orbital connective tissues in binocular alignment and strabismus. Invest Ophthalmol Vis Sci 2004;45:729-738.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 729-738
    • Demer, J.L.1
  • 43
    • 0032841535 scopus 로고    scopus 로고
    • Saccade-related inhibitory input to pontine omnipause neurons: An intracellular study in alert cats
    • Yoshida K, Iwamoto Y, Chimoto S, Shimazu H. Saccade-related inhibitory input to pontine omnipause neurons: an intracellular study in alert cats. J Neurophysiol 1999;82:1198-1208.
    • (1999) J Neurophysiol , vol.82 , pp. 1198-1208
    • Yoshida, K.1    Iwamoto, Y.2    Chimoto, S.3    Shimazu, H.4
  • 44
    • 0842340395 scopus 로고    scopus 로고
    • Shared brainstem pathways for saccades and smooth-pursuit eye movements
    • Keller EL, Missal M. Shared brainstem pathways for saccades and smooth-pursuit eye movements. Ann NY Acad Sci 2003;1004:29-39.
    • (2003) Ann NY Acad Sci , vol.1004 , pp. 29-39
    • Keller, E.L.1    Missal, M.2
  • 45
    • 0002516841 scopus 로고
    • Neuronal activity in the mesencephalon related to vertical eye movements
    • Baker R, Berthoz A, eds. Amsterdam: Elsevier
    • King, WM, Fuchs AF. Neuronal activity in the mesencephalon related to vertical eye movements. In: Baker R, Berthoz A, eds. Control of gaze by brain stem neurons. Amsterdam: Elsevier, 1977:319-326.
    • (1977) Control of Gaze by Brain Stem Neurons , pp. 319-326
    • King, W.M.1    Fuchs, A.F.2
  • 46
    • 0001886001 scopus 로고
    • Control of saccadic eye movements by midline brain stem neurons
    • Baker R, Berthoz A, eds. Amsterdam: Elsevier
    • Keller EL. Control of saccadic eye movements by midline brain stem neurons. In: Baker R, Berthoz A, eds. Control of gaze by brain stem neurons. Amsterdam: Elsevier, 1977:327-336.
    • (1977) Control of Gaze by Brain Stem Neurons , pp. 327-336
    • Keller, E.L.1
  • 47
    • 0030279548 scopus 로고    scopus 로고
    • Endpoint accuracy in saccades interrupted by stimulation in the omnipause region in monkeys
    • Keller EL, Ganghi NJ, Shieh JM. Endpoint accuracy in saccades interrupted by stimulation in the omnipause region in monkeys. Vis Neurosci 1996;13:1059-1067.
    • (1996) Vis Neurosci , vol.13 , pp. 1059-1067
    • Keller, E.L.1    Ganghi, N.J.2    Shieh, J.M.3
  • 48
    • 0344200107 scopus 로고    scopus 로고
    • Model of the control of saccades by superior colliculus and cerebellum
    • Quaia C, Lefevre P, Optican LM. Model of the control of saccades by superior colliculus and cerebellum. J Neurophysiol 1999;82:999-1018.
    • (1999) J Neurophysiol , vol.82 , pp. 999-1018
    • Quaia, C.1    Lefevre, P.2    Optican, L.M.3
  • 49
    • 0034604158 scopus 로고    scopus 로고
    • Encoding of movement time by populations of cerebellar Purkinje cells
    • Thier P, Dicke PW, Haas R, Barash S. Encoding of movement time by populations of cerebellar Purkinje cells. Nature 2000;405:72-76.
    • (2000) Nature , vol.405 , pp. 72-76
    • Thier, P.1    Dicke, P.W.2    Haas, R.3    Barash, S.4
  • 50
    • 0027442555 scopus 로고
    • Role of the caudal fastigial nucleus in saccade generation. II. Effects of muscimol inactivation
    • Robinson FR, Straube A, Fuchs AF. Role of the caudal fastigial nucleus in saccade generation. II. Effects of muscimol inactivation J Neurophysiol 1993;70:1741-1758.
    • (1993) J Neurophysiol , vol.70 , pp. 1741-1758
    • Robinson, F.R.1    Straube, A.2    Fuchs, A.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.