메뉴 건너뛰기




Volumn 258, Issue 12, 2011, Pages 2155-2162

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

Author keywords

Dopa responsive dystonia; Guanosine triphosphate cyclohydrolase I deficiency; IQ; Neuropsychiatric symptoms; Segawa disease

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I;

EID: 83255185729     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6079-9     Document Type: Article
Times cited : (31)

References (35)
  • 1
    • 0002787606 scopus 로고    scopus 로고
    • Impulsiveness and aggression
    • J. Monahan H.J. Steadman (eds). The University of Chicago Press Chicago
    • Barrat ES (1996) Impulsiveness and aggression. In: Monahan J, Steadman HJ (eds) Violence and mental disorder: developments in risk assessment. The University of Chicago Press, Chicago, pp 61-79
    • (1996) Violence and Mental Disorder: Developments in Risk Assessment , pp. 61-79
    • Barrat, E.S.1
  • 2
    • 70350654728 scopus 로고
    • An inventory for measuring depression
    • 13688369 1:STN:280:DyaF3c%2FgslKisg%3D%3D
    • AT Beck CH Ward M Mendelson J Mock J Erbaugh 1961 An inventory for measuring depression Arch Gen Psychiatry 4 561 571 13688369 1:STN:280: DyaF3c%2FgslKisg%3D%3D
    • (1961) Arch Gen Psychiatry , vol.4 , pp. 561-571
    • Beck, A.T.1    Ward, C.H.2    Mendelson, M.3    Mock, J.4    Erbaugh, J.5
  • 5
    • 0035099949 scopus 로고    scopus 로고
    • Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
    • L Bonafé B Thöny W Leimbacher L Kierat N Blau 2001 Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts Clin Chem 47 477 485 11238300 (Pubitemid 32222462)
    • (2001) Clinical Chemistry , vol.47 , Issue.3 , pp. 477-485
    • Bonafe, L.1    Thony, B.2    Leimbacher, W.3    Kierat, L.4    Blau, N.5
  • 7
    • 0024389366 scopus 로고
    • The Pittsburgh Sleep Quality Index: A new instrument for psychiatric practice and research
    • DOI 10.1016/0165-1781(89)90047-4
    • DJ Buysse CF Reynolds 3rd TH Monk SR Berman DJ Kupfer 1989 The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research Psychiatry Res 28 193 213 2748771 10.1016/0165-1781(89)90047-4 1:STN:280:DyaL1Mzhs1Wmsg%3D%3D (Pubitemid 19144991)
    • (1989) Psychiatry Research , vol.28 , Issue.2 , pp. 193-213
    • Buysse, D.J.1    Reynolds III, C.F.2    Monk, T.H.3    Berman, S.R.4    Kupfer, D.J.5
  • 8
    • 0001579418 scopus 로고
    • Development of a more reliable version of the matching familiar figures test
    • 10.1037/0012-1649.14.5.555
    • E Cairns T Cammock 1978 Development of a more reliable version of the matching familiar figures test Dev Psychol 14 555 560 10.1037/0012-1649.14.5.555
    • (1978) Dev Psychol , vol.14 , pp. 555-560
    • Cairns, E.1    Cammock, T.2
  • 9
    • 70350728590 scopus 로고    scopus 로고
    • Perceived insufficient rest or sleep among adults-United States, 2008
    • Centers for Disease Control and Prevention (CDC)
    • Centers for Disease Control and Prevention (CDC) 2009 Perceived insufficient rest or sleep among adults-United States, 2008 MMWR Morb Mortal Wkly Rep 58 1175 1179
    • (2009) MMWR Morb Mortal Wkly Rep , vol.58 , pp. 1175-1179
  • 10
    • 0032694028 scopus 로고    scopus 로고
    • Varieties of impulsivity
    • DOI 10.1007/PL00005481
    • JL Evenden 1999 Varieties of impulsivity Psychopharmacology (Berl) 146 348 361 10.1007/PL00005481 1:CAS:528:DyaK1MXnvVansL0%3D (Pubitemid 29513276)
    • (1999) Psychopharmacology , vol.146 , Issue.4 , pp. 348-361
    • Evenden, J.L.1
  • 13
    • 0035006445 scopus 로고    scopus 로고
    • Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene
    • H Hahn MR Trant MJ Brownstein RA Harper S Milstien IJ Butler 2001 Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene Arch Neurol 58 749 755 11346370 10.1001/archneur.58.5.749 1:STN:280:DC%2BD3M3ptlGmug%3D%3D (Pubitemid 32423047)
    • (2001) Archives of Neurology , vol.58 , Issue.5 , pp. 749-755
    • Hahn, H.1    Trant, M.R.2    Brownstein, M.J.3    Harper, R.A.4    Milstien, S.5    Butler, I.J.6
  • 14
    • 0017724319 scopus 로고
    • Obsessional-compulsive complaints
    • DOI 10.1016/0005-7967(77)90042-0
    • RJ Hodgson S Rachman 1977 Obsessional-compulsive complaints Behav Res Ther 15 389 395 612339 10.1016/0005-7967(77)90042-0 1:STN:280: DyaE1c7msFGrsA%3D%3D (Pubitemid 8203150)
    • (1977) Behaviour Research and Therapy , vol.15 , Issue.5 , pp. 389-395
    • Hodgson, R.J.1    Rachman, S.2
  • 16
    • 70349873810 scopus 로고    scopus 로고
    • Classification and epidemiology of sleep disorders
    • 19836691 10.1016/j.chc.2009.04.005
    • A Ivanenko BR Gururaj 2009 Classification and epidemiology of sleep disorders Child Adolesc Psychiatr Clin N Am 18 839 848 19836691 10.1016/j.chc.2009.04.005
    • (2009) Child Adolesc Psychiatr Clin N Am , vol.18 , pp. 839-848
    • Ivanenko, A.1    Gururaj, B.R.2
  • 17
    • 0020027339 scopus 로고
    • Somnambulism in childhood - prevalence, course and behavioral correlations. A prospective longitudinal study (6-16 years)
    • G Klackenberg 1982 Somnambulism in childhood-prevalence, course and behavioral correlations. A prospective longitudinal study (6-16 years) Acta Paediatr Scand 71 495 499 7136663 10.1111/j.1651-2227.1982.tb09458.x 1:STN:280:DyaL3s%2FksVGmsQ%3D%3D (Pubitemid 12150298)
    • (1982) Acta Paediatrica Scandinavica , vol.71 , Issue.3 , pp. 495-499
    • Klackenberg, G.1
  • 19
  • 21
    • 34447550361 scopus 로고    scopus 로고
    • Dopa-responsive dystonia (Segawa disease)-like disease accompanied by mental retardation: A case report [1]
    • DOI 10.1002/mds.21517
    • E Nagata A Kosakai K Tanaka M Segawa H Fujioka H Shintaku, et al. 2007 Dopa-responsive dystonia (Segawa disease)-like disease accompanied by mental retardation: a case report Mov Disord 22 1202 1203 17469209 10.1002/mds.21517 (Pubitemid 47067238)
    • (2007) Movement Disorders , vol.22 , Issue.8 , pp. 1202-1203
    • Nagata, E.1    Kosakai, A.2    Tanaka, K.3    Segawa, M.4    Fujioka, H.5    Shintaku, H.6    Suzuki, N.7
  • 22
    • 0031777984 scopus 로고    scopus 로고
    • Dopa responsive dystonia with Turner's syndrome: Clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene
    • M Nitschke D Steinberger I Heberlein V Otto U Muller P Vieregge 1998 Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene J Neurol Neurosurg Psychiatry 64 806 808 9647318 10.1136/jnnp.64.6.806 1:STN:280:DyaK1czgvFGgsQ%3D%3D (Pubitemid 28274420)
    • (1998) Journal of Neurology Neurosurgery and Psychiatry , vol.64 , Issue.6 , pp. 806-808
    • Nitschke, M.1    Steinberger, D.2    Heberlein, I.3    Otto, V.4    Muller, U.5    Vieregge, P.6
  • 23
    • 0027354029 scopus 로고
    • Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis
    • TG Nygard 1993 Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis Adv Neurol 60 577 585
    • (1993) Adv Neurol , vol.60 , pp. 577-585
    • Nygard, T.G.1
  • 24
    • 41349098780 scopus 로고    scopus 로고
    • The neuropharmacology of impulsive behaviour
    • 18304658 10.1016/j.tips.2008.01.002 1:CAS:528:DC%2BD1cXksVehsro%3D
    • T Pattij LJ Vanderschuren 2008 The neuropharmacology of impulsive behaviour Trends Pharmacol Sci 29 192 199 18304658 10.1016/j.tips.2008.01.002 1:CAS:528:DC%2BD1cXksVehsro%3D
    • (2008) Trends Pharmacol Sci , vol.29 , pp. 192-199
    • Pattij, T.1    Vanderschuren, L.J.2
  • 25
    • 0042868558 scopus 로고    scopus 로고
    • Autosomal dominant guanosine triphosphate cyclohydrolase i deficiency (Segawa disease)
    • 12891652 10.1002/ana.10630 1:CAS:528:DC%2BD3sXmslalu7w%3D
    • M Segawa Y Nomura N Nishiyama 2003 Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease) Ann Neurol 54 S32 S45 12891652 10.1002/ana.10630 1:CAS:528:DC%2BD3sXmslalu7w%3D
    • (2003) Ann Neurol , vol.54
    • Segawa, M.1    Nomura, Y.2    Nishiyama, N.3
  • 28
    • 0034176921 scopus 로고    scopus 로고
    • Tetrahydrobiopterin biosynthesis, regeneration and functions
    • DOI 10.1042/0264-6021:3470001
    • B Thöny G Auerbach N Blau 2000 Tetrahydrobiopterin biosynthesis, regeneration and functions Biochem J 347 1 16 10727395 10.1042/0264-6021:3470001 (Pubitemid 30199034)
    • (2000) Biochemical Journal , vol.347 , Issue.1 , pp. 1-16
    • Thony, B.1    Auerbach, G.2    Blau, N.3
  • 29
    • 67849106621 scopus 로고    scopus 로고
    • Autosomal-dominant GTPCH1-deficient DRD: Clinical characteristics and long-term outcome of 34 patients
    • 19332422 10.1136/jnnp.2008.155861 1:STN:280:DC%2BD1MvovVKjsw%3D%3D
    • I Trender-Gerhard MG Sweeney P Schwingenschuh P Mir MJ Edwards A Gerhard, et al. 2009 Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients J Neurol Neurosurg Psychiatry 80 839 845 19332422 10.1136/jnnp.2008.155861 1:STN:280:DC%2BD1MvovVKjsw%3D%3D
    • (2009) J Neurol Neurosurg Psychiatry , vol.80 , pp. 839-845
    • Trender-Gerhard, I.1    Sweeney, M.G.2    Schwingenschuh, P.3    Mir, P.4    Edwards, M.J.5    Gerhard, A.6
  • 30
    • 33745206019 scopus 로고    scopus 로고
    • Critical involvement of dopaminergic neurotransmission in impulsive decision-making
    • 16125144 10.1016/j.biopsych.2005.06.005
    • MM Van Gaalen R van Koten AN Schoffelmeer LJ Vanderschuren 2006 Critical involvement of dopaminergic neurotransmission in impulsive decision-making Biol Psychiatry 60 66 73 16125144 10.1016/j.biopsych.2005.06.005
    • (2006) Biol Psychiatry , vol.60 , pp. 66-73
    • Van Gaalen, M.M.1    Van Koten, R.2    Schoffelmeer, A.N.3    Vanderschuren, L.J.4
  • 32
    • 33747837428 scopus 로고    scopus 로고
    • Case 26-2006: A 19-year-old woman with difficulty walking
    • DOI 10.1056/NEJMcpc069015
    • N Venna KB Sims PE Grant 2006 Case records of the Massachusetts General Hospital. Case 26-2006. A 19-year-old woman with difficulty walking N Engl J Med 355 831 839 16928999 10.1056/NEJMcpc069015 1:CAS:528:DC%2BD28Xos1KmtLc%3D (Pubitemid 44285589)
    • (2006) New England Journal of Medicine , vol.355 , Issue.8 , pp. 831-839
    • Venna, N.1    Sims, K.B.2    Grant, P.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.