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Volumn 153, Issue 7, 2010, Pages 1253-1265

Psychiatric and behavioral manifestations of lysosomal storage disorders

Author keywords

Behavioral abnormalities; Enzyme deficiency; Genetic disorders; Lysosomal storage disorders; Psychiatric disorders

Indexed keywords

AGGRESSIVENESS; ASPARTYLGLYCOSAMINURIA; BETA MANNOSIDOSIS; DEMENTIA; ENZYME REPLACEMENT; FABRY DISEASE; GAUCHER DISEASE; GENE MUTATION; GENE THERAPY; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; LYSOSOME STORAGE DISEASE; MANNOSIDOSIS; METACHROMATIC LEUKODYSTROPHY; MOOD DISORDER; MUCOPOLYSACCHARIDOSIS; NEURONAL CEROID LIPOFUSCINOSIS; NIEMANN PICK DISEASE; PRIORITY JOURNAL; PSYCHOSIS; REVIEW; SCHIZOPHRENIA; TAY SACHS DISEASE;

EID: 77957366083     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.31097     Document Type: Review
Times cited : (29)

References (82)
  • 1
    • 0027284253 scopus 로고
    • The inherited leukodystrophies: A clinical overview
    • Aicardi J. 1993. The inherited leukodystrophies: A clinical overview. J Inherit Metab Dis 16(4):733-743.
    • (1993) J Inherit Metab Dis , vol.16 , Issue.4 , pp. 733-743
    • Aicardi, J.1
  • 2
    • 0036212391 scopus 로고    scopus 로고
    • Progressive nature of aspartylglucosaminuria
    • Arvio P, Arvio M. 2002. Progressive nature of aspartylglucosaminuria. Acta Paediatr 91(3):255-257.
    • (2002) Acta Paediatr , vol.91 , Issue.3 , pp. 255-257
    • Arvio, P.1    Arvio, M.2
  • 3
    • 0027253317 scopus 로고
    • Early clinical symptoms and incidence of aspartylglucosaminuria in Finland
    • Arvio M, Autio S, Louhiala P. 1993. Early clinical symptoms and incidence of aspartylglucosaminuria in Finland. Acta Paediatr 82(6-7):587-589.
    • (1993) Acta Paediatr , vol.82 , Issue.6-7 , pp. 587-589
    • Arvio, M.1    Autio, S.2    Louhiala, P.3
  • 6
    • 13844266218 scopus 로고    scopus 로고
    • Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis
    • Backman ML, Santavuori PR, Aberg LE, Aronen ET. 2005. Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis. J Intellect Disabil Res 49(Pt1): 25-32.
    • (2005) J Intellect Disabil Res , vol.49 , Issue.PART 1 , pp. 25-32
    • Backman, M.L.1    Santavuori, P.R.2    Aberg, L.E.3    Aronen, E.T.4
  • 8
    • 0029023563 scopus 로고
    • Behaviour in mucopolysaccharide disorders
    • Bax MC, Colville GA. 1995. Behaviour in mucopolysaccharide disorders. Arch Dis Child 73(1):77-81.
    • (1995) Arch Dis Child , vol.73 , Issue.1 , pp. 77-81
    • Bax, M.C.1    Colville, G.A.2
  • 10
    • 16544362283 scopus 로고    scopus 로고
    • Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters
    • Berger-Plantinga EG, Vanneste JA, Groener JE, van Schooneveld MJ. 2004. Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. J Neurol 251(4):479-481.
    • (2004) J Neurol , vol.251 , Issue.4 , pp. 479-481
    • Berger-Plantinga, E.G.1    Vanneste, J.A.2    Groener, J.E.3    Van Schooneveld, M.J.4
  • 13
    • 0346328624 scopus 로고    scopus 로고
    • Late diagnosis of neurodegenerative disease in children: Anosognosia by proxy
    • Butler RW, Light R. 2003. Late diagnosis of neurodegenerative disease in children: Anosognosia by proxy. Clin Neuropsychol 17(3):374-382.
    • (2003) Clin Neuropsychol , vol.17 , Issue.3 , pp. 374-382
    • Butler, R.W.1    Light, R.2
  • 14
    • 77950521638 scopus 로고    scopus 로고
    • Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)
    • Champion KJ, Basehore MJ, Wood T, Destree A, Vannuffel P, Maystadt I. 2010. Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). Mol Genet Metab 100:51-56.
    • (2010) Mol Genet Metab , vol.100 , pp. 51-56
    • Champion, K.J.1    Basehore, M.J.2    Wood, T.3    Destree, A.4    Vannuffel, P.5    Maystadt, I.6
  • 15
    • 0027487001 scopus 로고
    • Management of mucopolysaccharidosis type III
    • Cleary MA, Wraith JE. 1993. Management of mucopolysaccharidosis type III. Arch Dis Child 69(3):403-406.
    • (1993) Arch Dis Child , vol.69 , Issue.3 , pp. 403-406
    • Cleary, M.A.1    Wraith, J.E.2
  • 16
    • 0028899004 scopus 로고
    • The presenting features of mucopolysaccharidosis type IH (Hurler syndrome)
    • Cleary MA, Wraith JE. 1995. The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr 84(3):337-339.
    • (1995) Acta Paediatr , vol.84 , Issue.3 , pp. 337-339
    • Cleary, M.A.1    Wraith, J.E.2
  • 20
    • 0033968275 scopus 로고    scopus 로고
    • Psychiatric symptoms of inherited metabolic disease
    • Estrov Y, Scaglia F, Bodamer OA. 2000. Psychiatric symptoms of inherited metabolic disease. J Inherit Metab Dis 23(1):2-6.
    • (2000) J Inherit Metab Dis , vol.23 , Issue.1 , pp. 2-6
    • Estrov, Y.1    Scaglia, F.2    Bodamer, O.A.3
  • 21
    • 0345268640 scopus 로고    scopus 로고
    • Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): A survey of managing clinicians
    • Fraser J, Wraith JE, Delatycki MB. 2002. Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): A survey of managing clinicians. Clin Genet 62(5):418-421.
    • (2002) Clin Genet , vol.62 , Issue.5 , pp. 418-421
    • Fraser, J.1    Wraith, J.E.2    Delatycki, M.B.3
  • 22
    • 54049097933 scopus 로고    scopus 로고
    • The spectrum of Parkinsonian manifestations associated with glucocerebrosidase mutations
    • Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E. 2008a. The spectrum of Parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol 65(10):1353-1357.
    • (2008) Arch Neurol , vol.65 , Issue.10 , pp. 1353-1357
    • Goker-Alpan, O.1    Lopez, G.2    Vithayathil, J.3    Davis, J.4    Hallett, M.5    Sidransky, E.6
  • 24
    • 0028037636 scopus 로고
    • Medical conditions in Ashkenazi schizophrenic pedigrees
    • Goodman AB. 1994. Medical conditions in Ashkenazi schizophrenic pedigrees. Schizophr Bull 20(3):507-517.
    • (1994) Schizophr Bull , vol.20 , Issue.3 , pp. 507-517
    • Goodman, A.B.1
  • 25
    • 33750727424 scopus 로고    scopus 로고
    • Molecular analysis in two beta-mannosidosis patients: Description of a new adult case
    • Gort L, Duque J, Fabeiro JM, Zulaica A, Coll MJ, Chabas A. 2006. Molecular analysis in two beta-mannosidosis patients: Description of a new adult case. Mol Genet Metab 89(4):398-400.
    • (2006) Mol Genet Metab , vol.89 , Issue.4 , pp. 398-400
    • Gort, L.1    Duque, J.2    Fabeiro, J.M.3    Zulaica, A.4    Coll, M.J.5    Chabas, A.6
  • 27
    • 0027373749 scopus 로고
    • Psychiatric disorders in patients with Fabry's disease
    • Grewal RP. 1993. Psychiatric disorders in patients with Fabry's disease. Int J Psychiatry Med 23(3):307-312.
    • (1993) Int J Psychiatry Med , vol.23 , Issue.3 , pp. 307-312
    • Grewal, R.P.1
  • 29
    • 0343338037 scopus 로고
    • Neurological signs in a juvenile form of Gaucher's disease
    • Herrlin KM, Hillborg PO. 1962. Neurological signs in a juvenile form of Gaucher's disease. Acta Paediatr 51:137-154.
    • (1962) Acta Paediatr , vol.51 , pp. 137-154
    • Herrlin, K.M.1    Hillborg, P.O.2
  • 30
    • 34250723911 scopus 로고    scopus 로고
    • Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy - A retrospective analysis from the Fabry Outcome Survey
    • Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A. 2007. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy - A retrospective analysis from the Fabry Outcome Survey. Clin J Pain 23(6):535-542.
    • (2007) Clin J Pain , vol.23 , Issue.6 , pp. 535-542
    • Hoffmann, B.1    Beck, M.2    Sunder-Plassmann, G.3    Borsini, W.4    Ricci, R.5    Mehta, A.6
  • 31
    • 0027404272 scopus 로고
    • Neuropsychiatric aspects of adult-onset Tay-Sachs disease: Two case reports with several new findings
    • Hurowitz G, Silver J, Brin M, Williams D, Johnson W. 1993. Neuropsychiatric aspects of adult-onset Tay-Sachs disease: Two case reports with several new findings. J Neuropsychiatry Clin Neurosci 5(1):30-36.
    • (1993) J Neuropsychiatry Clin Neurosci , vol.5 , Issue.1 , pp. 30-36
    • Hurowitz, G.1    Silver, J.2    Brin, M.3    Williams, D.4    Johnson, W.5
  • 32
    • 0026517334 scopus 로고
    • Psychiatric disturbances in metachromatic leukodystrophy: Insights into the neurobiology of psychosis
    • Hyde TM, Ziegler JC, Weinberger DR. 1992. Psychiatric disturbances in metachromatic leukodystrophy: Insights into the neurobiology of psychosis. Arch Neurol 49(4):401-406.
    • (1992) Arch Neurol , vol.49 , Issue.4 , pp. 401-406
    • Hyde, T.M.1    Ziegler, J.C.2    Weinberger, D.R.3
  • 33
    • 62949195147 scopus 로고    scopus 로고
    • Neuronal ceroid lipofuscinoses
    • Jalanko A, Braulke T. 2009. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 1793(4):697-709.
    • (2009) Biochim Biophys Acta , vol.1793 , Issue.4 , pp. 697-709
    • Jalanko, A.1    Braulke, T.2
  • 39
    • 27744500550 scopus 로고    scopus 로고
    • Psychiatric symptoms in alphamannosidosis
    • Malm D, Pantel J, Linaker OM. 2005. Psychiatric symptoms in alphamannosidosis. J Intellect Disabil Res 49(Pt11): 865-871.
    • (2005) J Intellect Disabil Res , vol.49 , Issue.PART 11 , pp. 865-871
    • Malm, D.1    Pantel, J.2    Linaker, O.M.3
  • 41
    • 25844517550 scopus 로고    scopus 로고
    • Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
    • Mole SE, Williams RE, Goebel HH. 2005. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 6(3):107-126.
    • (2005) Neurogenetics , vol.6 , Issue.3 , pp. 107-126
    • Mole, S.E.1    Williams, R.E.2    Goebel, H.H.3
  • 42
    • 0028239892 scopus 로고
    • Neonatal detection of aspartylglycosaminuria
    • Mononen I, Ylikangas P, Mononen T, Savolainen K. 1994. Neonatal detection of aspartylglycosaminuria. Lancet 343(8908):1297-1298.
    • (1994) Lancet , vol.343 , Issue.8908 , pp. 1297-1298
    • Mononen, I.1    Ylikangas, P.2    Mononen, T.3    Savolainen, K.4
  • 44
    • 0022517432 scopus 로고
    • Hexosaminidase A deficiency in adults
    • Navon R, Argov Z, Frisch A. 1986. Hexosaminidase A deficiency in adults. Am J Med Genet 24(1):179-196.
    • (1986) Am J Med Genet , vol.24 , Issue.1 , pp. 179-196
    • Navon, R.1    Argov, Z.2    Frisch, A.3
  • 45
    • 0018341841 scopus 로고
    • Familial psychosis and diverse neurologic abnormalities in adult-onset Gaucher's disease
    • Neil JF, Glew RH, Peters SP. 1979. Familial psychosis and diverse neurologic abnormalities in adult-onset Gaucher's disease. Arch Neurol 36(2):95-99.
    • (1979) Arch Neurol , vol.36 , Issue.2 , pp. 95-99
    • Neil, J.F.1    Glew, R.H.2    Peters, S.P.3
  • 46
    • 13844309674 scopus 로고    scopus 로고
    • Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients
    • Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH. 2005. Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med 7(2):119-123.
    • (2005) Genet Med , vol.7 , Issue.2 , pp. 119-123
    • Neudorfer, O.1    Pastores, G.M.2    Zeng, B.J.3    Gianutsos, J.4    Zaroff, C.M.5    Kolodny, E.H.6
  • 47
    • 0000869162 scopus 로고    scopus 로고
    • The mucopolysaccharidoses
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
    • Neufeld EF, Muenzer J. 2001. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. pp 3421-3452.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3421-3452
    • Neufeld, E.F.1    Muenzer, J.2
  • 48
    • 0036589886 scopus 로고    scopus 로고
    • Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction
    • Nijssen PC, Brusse E, Leyten AC, Martin JJ, Teepen JL, Roos RA. 2002. Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction. Mov Disord 17(3):482-487.
    • (2002) Mov Disord , vol.17 , Issue.3 , pp. 482-487
    • Nijssen, P.C.1    Brusse, E.2    Leyten, A.C.3    Martin, J.J.4    Teepen, J.L.5    Roos, R.A.6
  • 49
    • 72449121973 scopus 로고    scopus 로고
    • Transplant outcomes in leukodystrophies
    • Orchard PJ, Tolar J. 2010. Transplant outcomes in leukodystrophies. Semin Hematol 47(1):70-78.
    • (2010) Semin Hematol , vol.47 , Issue.1 , pp. 70-78
    • Orchard, P.J.1    Tolar, J.2
  • 50
    • 0000831301 scopus 로고    scopus 로고
    • Niemann-Pick disease type C: A lipid trafficking disorder
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
    • Patterson MC, et al. 2001. Niemann-Pick disease type C: A lipid trafficking disorder. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. pp 3611-3633.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3611-3633
    • Patterson, M.C.1
  • 54
    • 0026544676 scopus 로고
    • Electro-convulsive therapy treatment of depression in a patient with adult GM2 gangliosidosis
    • Renshaw PF, Stern TA, Welch C, Schouten R, Kolodny EH. 1992. Electro-convulsive therapy treatment of depression in a patient with adult GM2 gangliosidosis. Ann Neurol 31(3):342-344.
    • (1992) Ann Neurol , vol.31 , Issue.3 , pp. 342-344
    • Renshaw, P.F.1    Stern, T.A.2    Welch, C.3    Schouten, R.4    Kolodny, E.H.5
  • 62
    • 0034912183 scopus 로고    scopus 로고
    • Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders
    • Santavuori P, Vanhanen SL, Autti T. 2001. Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders. Eur J Paediatr Neurol 5(Suppl A): 157-161.
    • (2001) Eur J Paediatr Neurol , vol.5 , Issue.SUPPL. A , pp. 157-161
    • Santavuori, P.1    Vanhanen, S.L.2    Autti, T.3
  • 63
    • 63149135596 scopus 로고    scopus 로고
    • Fabry disease
    • Schiffmann R. 2009. Fabry disease. Pharmacol Ther 122(1):65-77.
    • (2009) Pharmacol Ther , vol.122 , Issue.1 , pp. 65-77
    • Schiffmann, R.1
  • 66
    • 67651242502 scopus 로고    scopus 로고
    • Miglustat in late-onset Tay-Sachs disease: A 12-month, randomized, controlled clinical study with 24 months of extended treatment
    • 10.1097/GIM.0b013e3181a1b5c5
    • Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH. 2009. Miglustat in late-onset Tay-Sachs disease: A 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med 11(6):425-433. 10.1097/GIM.0b013e3181a1b5c5.
    • (2009) Genet Med , vol.11 , Issue.6 , pp. 425-433
    • Shapiro, B.E.1    Pastores, G.M.2    Gianutsos, J.3    Luzy, C.4    Kolodny, E.H.5
  • 67
    • 4744343655 scopus 로고    scopus 로고
    • Gaucher disease: Complexity in a "simple" disorder
    • Sidransky E. 2004. Gaucher disease: Complexity in a "simple" disorder. Mol Genet Metab 83(1-2):6-15.
    • (2004) Mol Genet Metab , vol.83 , Issue.1-2 , pp. 6-15
    • Sidransky, E.1
  • 69
    • 77957360196 scopus 로고
    • Histopathological studies in sulphatide lipidosis (metachromatic leukodystrophy)
    • Sourander P. 1962. Histopathological studies in sulphatide lipidosis (metachromatic leukodystrophy). Acta Pathol Microbiol Scand Suppl 154:83-85.
    • (1962) Acta Pathol Microbiol Scand Suppl , vol.154 , pp. 83-85
    • Sourander, P.1
  • 70
    • 0024433922 scopus 로고
    • Psychiatric features of adult GM2 gangliosidosis
    • Streifler J, Golomb M, Gadoth N. 1989. Psychiatric features of adult GM2 gangliosidosis. Br J Psychiatry 155:410-413.
    • (1989) Br J Psychiatry , vol.155 , pp. 410-413
    • Streifler, J.1    Golomb, M.2    Gadoth, N.3
  • 71
    • 0001437175 scopus 로고    scopus 로고
    • Disorders of glycoprotein degradation: α-Mannosidosis, b-mannosidosis, fucosidosis, and sialidosis
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
    • Thomas GH. 2001. Disorders of glycoprotein degradation: α-Mannosidosis, b-mannosidosis, fucosidosis, and sialidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. pp 3507-3533.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3507-3533
    • Thomas, G.H.1
  • 72
    • 0346622392 scopus 로고    scopus 로고
    • Cost of depression among adults in England in 2000
    • Thomas CM, Morris S. 2003. Cost of depression among adults in England in 2000. Br J Psychiatry 183:514-519.
    • (2003) Br J Psychiatry , vol.183 , pp. 514-519
    • Thomas, C.M.1    Morris, S.2
  • 76
    • 0000497407 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
    • von Figura K, et al. 2001. Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. pp 3695-3724.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3695-3724
    • Von Figura, K.1
  • 78
    • 0034480973 scopus 로고    scopus 로고
    • Hyperactivity and behavioral disorders in Sanfilippo A (mucopolysaccharidosis type IIIA) - Case report and review of the literature
    • Wolanczyk T, Banaszkiewicz A, Mierzewska H, Czartoryska B, Zdziennicka E. 2000. Hyperactivity and behavioral disorders in Sanfilippo A (mucopolysaccharidosis type IIIA) - Case report and review of the literature. Psychiatr Pol 34(5):831-837.
    • (2000) Psychiatr Pol , vol.34 , Issue.5 , pp. 831-837
    • Wolanczyk, T.1    Banaszkiewicz, A.2    Mierzewska, H.3    Czartoryska, B.4    Zdziennicka, E.5
  • 81
    • 0022351036 scopus 로고
    • Adult metachromatic leukodystrophy: Neurophysiologic findings
    • Wulff CH, Trojaborg W. 1985. Adult metachromatic leukodystrophy: Neurophysiologic findings. Neurology 35(12):1776-1778.
    • (1985) Neurology , vol.35 , Issue.12 , pp. 1776-1778
    • Wulff, C.H.1    Trojaborg, W.2


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