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Volumn 17, Issue 2, 2007, Pages 85-91

Adult metachromatic leukodystrophy: A new mutation in the schizophrenia-like phenotype with early neurological signs

Author keywords

Arylsulphatases; Metachromatic leukodystrophy; Mutation; Psycho cognitive type; Schizophrenia

Indexed keywords

CEREBROSIDE SULFATASE; ISOLEUCINE; THREONINE;

EID: 34247092345     PISSN: 09558829     EISSN: None     Source Type: Journal    
DOI: 10.1097/YPG.0b013e3280298280     Document Type: Article
Times cited : (21)

References (16)
  • 1
    • 0004235298 scopus 로고
    • American Psychiatric Association , 4th ed. Washington: American Psychiatric Association
    • American Psychiatric Association (1994). Diagnostic and statistical manual of mental disorders. 4th ed. Washington: American Psychiatric Association.
    • (1994) Diagnostic and statistical manual of mental disorders
  • 2
    • 0036556486 scopus 로고    scopus 로고
    • Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: Genotype/phenotype relationships
    • Baumann N, Turpin JC, Lefevre M, Closch B (2002). Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships. J Physiol-Paris 96:301-306.
    • (2002) J Physiol-Paris , vol.96 , pp. 301-306
    • Baumann, N.1    Turpin, J.C.2    Lefevre, M.3    Closch, B.4
  • 6
    • 14144256217 scopus 로고    scopus 로고
    • Adult metachromatic leukodystrophy: Disorganized schizophrenia-like symptoms and post-partum depression in 2 sisters
    • Gregoric-Kumperscak H, Paschke E, Gradisnik P, Vidmar J, Umek-Bradac S (2005). Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and post-partum depression in 2 sisters. J Psychiatry Neurosci 30:33-36.
    • (2005) J Psychiatry Neurosci , vol.30 , pp. 33-36
    • Gregoric-Kumperscak, H.1    Paschke, E.2    Gradisnik, P.3    Vidmar, J.4    Umek-Bradac, S.5
  • 8
    • 0033227181 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy: A new identified mutation in arylsulphatase A: D281Y, found as a compound heterozygote with I179L in an adult onset case
    • Halsall DJ, Halligan EP, Elsey TS, Cox TM (1999). Metachromatic leukodystrophy: a new identified mutation in arylsulphatase A: D281Y, found as a compound heterozygote with I179L in an adult onset case. Hum Mutat 14:447.
    • (1999) Hum Mutat , vol.14 , pp. 447
    • Halsall, D.J.1    Halligan, E.P.2    Elsey, T.S.3    Cox, T.M.4
  • 9
    • 0026517334 scopus 로고
    • Psychiatric disturbances in metachromatic leukodystrophy
    • Hyde TM, Ziegler JC, Weinberger DR (1992). Psychiatric disturbances in metachromatic leukodystrophy. Arch Neurol 49:401-406.
    • (1992) Arch Neurol , vol.49 , pp. 401-406
    • Hyde, T.M.1    Ziegler, J.C.2    Weinberger, D.R.3
  • 10
    • 0035130605 scopus 로고    scopus 로고
    • Update on genetic disorders affecting white matter
    • Kaye EM (2001). Update on genetic disorders affecting white matter. Pediatr Neurol 24:11-24.
    • (2001) Pediatr Neurol , vol.24 , pp. 11-24
    • Kaye, E.M.1
  • 11
    • 0032539976 scopus 로고    scopus 로고
    • Crystal structure of human arylsulphatase A: The aldehyde function and the metal ion at the active site suggest a novel mechanism for sulphate ester hydrolysis
    • Lukatela G, Krauss N, Theis K, Selmer T, Gieselmann V, von Figura K, Saenger W (1998). Crystal structure of human arylsulphatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulphate ester hydrolysis. Biochemistry 37:3654-3664.
    • (1998) Biochemistry , vol.37 , pp. 3654-3664
    • Lukatela, G.1    Krauss, N.2    Theis, K.3    Selmer, T.4    Gieselmann, V.5    von Figura, K.6    Saenger, W.7
  • 12
    • 13444274679 scopus 로고    scopus 로고
    • Adult metachromatic leukodystrophy without electroclinical peripheral nervous system involvement. A new mutation in the ARSA gene
    • Maracao AM, Wiest R, Schindler K, Wiesmann U, Weis J, Schroth G, et al. (2005). Adult metachromatic leukodystrophy without electroclinical peripheral nervous system involvement. A new mutation in the ARSA gene. Arch Neurol 62:309-313.
    • (2005) Arch Neurol , vol.62 , pp. 309-313
    • Maracao, A.M.1    Wiest, R.2    Schindler, K.3    Wiesmann, U.4    Weis, J.5    Schroth, G.6
  • 14
    • 0030460131 scopus 로고    scopus 로고
    • Late juvenile metachromatic leukodystrophy in three patients with similar clinical course and identical mutation on one allele
    • Tylki-Szymanska A, Berger J, Loschl B, Lugovska A, Molzer B (1996). Late juvenile metachromatic leukodystrophy in three patients with similar clinical course and identical mutation on one allele. Clin Genet 50:287-292.
    • (1996) Clin Genet , vol.50 , pp. 287-292
    • Tylki-Szymanska, A.1    Berger, J.2    Loschl, B.3    Lugovska, A.4    Molzer, B.5
  • 15
    • 0000497407 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy
    • Scriver CR, Beaudet AL, Valle D, Sly WS, editors, 8th ed. New York: McGraw-Hill. pp
    • Von Figura K, Gieselmann V, Jaeken J (2001). Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Valle D, Sly WS, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill. pp. 3695-3725.
    • (2001) The metabolic and molecular basis of inherited disease , pp. 3695-3725
    • Von Figura, K.1    Gieselmann, V.2    Jaeken, J.3
  • 16
    • 0035717736 scopus 로고    scopus 로고
    • Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization: Tandem mass spectrometry
    • Whitfield PD, Sharp PC, Johnson DW, Nelson P, Meikle PJ (2001). Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization: tandem mass spectrometry. Mol Genet Metab 73:30-37.
    • (2001) Mol Genet Metab , vol.73 , pp. 30-37
    • Whitfield, P.D.1    Sharp, P.C.2    Johnson, D.W.3    Nelson, P.4    Meikle, P.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.