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Volumn 63, Issue 8, 2004, Pages 1423-1426

Age at onset as a factor in determining the phenotype of primary torsion dystonia

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLEPHAROSPASM; DYSPHONIA; FAMILY STUDY; HUMAN; MAJOR CLINICAL STUDY; META ANALYSIS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; TORSION DYSTONIA;

EID: 7044272333     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000142035.26034.C2     Document Type: Article
Times cited : (84)

References (38)
  • 3
    • 0029798561 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
    • Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R, Auburger G. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 1996;5:1673-1677.
    • (1996) Hum Mol Genet , vol.5 , pp. 1673-1677
    • Leube, B.1    Rudnicki, D.2    Ratzlaff, T.3    Kessler, K.R.4    Benecke, R.5    Auburger, G.6
  • 4
    • 0030868892 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families
    • Almasy L, Bressman SB, Raymond D, et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 1997;42:670-673.
    • (1997) Ann Neurol , vol.42 , pp. 670-673
    • Almasy, L.1    Bressman, S.B.2    Raymond, D.3
  • 5
    • 0035091598 scopus 로고    scopus 로고
    • DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper-limb onset
    • Valente EM, Bentivoglio AR, Cassetta E, et al. DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper-limb onset. Ann Neurol 2001;49:362-366.
    • (2001) Ann Neurol , vol.49 , pp. 362-366
    • Valente, E.M.1    Bentivoglio, A.R.2    Cassetta, E.3
  • 6
    • 0029133628 scopus 로고
    • Adult-onset idiopathic torsion dystonia is excluded from the DYT1 region (9q34) in a Swedish family
    • Holmgren G, Ozelius L, Forsgren L, et al. Adult-onset idiopathic torsion dystonia is excluded from the DYT1 region (9q34) in a Swedish family. J Neurol Neurosurg Psychiatry 1995;59:178-181.
    • (1995) J Neurol Neurosurg Psychiatry , vol.59 , pp. 178-181
    • Holmgren, G.1    Ozelius, L.2    Forsgren, L.3
  • 8
    • 0033814985 scopus 로고    scopus 로고
    • A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia
    • Munchau A, Valente EM, Davis MB, et al. A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. Mov Disord 2000;15:954-959.
    • (2000) Mov Disord , vol.15 , pp. 954-959
    • Munchau, A.1    Valente, E.M.2    Davis, M.B.3
  • 10
    • 0028344689 scopus 로고
    • A study of idiopathic torsion dystonia in a non-Jewish family: Evidence for genetic heterogeneity
    • Bressman SB, Heiman GA, Nygaard TG, et al. A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology 1994;44:283-287.
    • (1994) Neurology , vol.44 , pp. 283-287
    • Bressman, S.B.1    Heiman, G.A.2    Nygaard, T.G.3
  • 11
    • 10244255192 scopus 로고    scopus 로고
    • Exclusion of the DYT1 locus in familial torticollis
    • Bressman SB, Warner TT, Almasy L, et al. Exclusion of the DYT1 locus in familial torticollis. Ann Neurol 1996;40:681-684.
    • (1996) Ann Neurol , vol.40 , pp. 681-684
    • Bressman, S.B.1    Warner, T.T.2    Almasy, L.3
  • 12
    • 0027494629 scopus 로고
    • Adult-onset familial cervical dystonia: Report of a family including monozygotic twins
    • Uitti RJ, Maraganore DM. Adult-onset familial cervical dystonia: report of a family including monozygotic twins. Mov Disord 1993;4:489-494.
    • (1993) Mov Disord , vol.4 , pp. 489-494
    • Uitti, R.J.1    Maraganore, D.M.2
  • 13
    • 0021816202 scopus 로고
    • Hereditary whispering dysphonia
    • Parker N. Hereditary whispering dysphonia. J Neurol Neurosurg Psychiatry 1985;48:218-224.
    • (1985) J Neurol Neurosurg Psychiatry , vol.48 , pp. 218-224
    • Parker, N.1
  • 14
    • 0036523847 scopus 로고    scopus 로고
    • Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
    • Brancati F, Defazio G, Caputo V, et al. Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. Mov Disord 2002;17:392-397.
    • (2002) Mov Disord , vol.17 , pp. 392-397
    • Brancati, F.1    Defazio, G.2    Caputo, V.3
  • 15
    • 0027482096 scopus 로고
    • Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia
    • Defazio G, Livrea P, Guanti G, Lepore V, Ferrari E. Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia. Eur Neurol 1993;33:345-350.
    • (1993) Eur Neurol , vol.33 , pp. 345-350
    • Defazio, G.1    Livrea, P.2    Guanti, G.3    Lepore, V.4    Ferrari, E.5
  • 16
    • 0006756992 scopus 로고
    • Inheritance of late-onset idiopathic torsion dystonia
    • Abstract
    • Bressman SB, Rassnick H, Almasy L, et al. Inheritance of late-onset idiopathic torsion dystonia. Neurology 1995;45(suppl 4):A457. Abstract.
    • (1995) Neurology , vol.45 , Issue.SUPPL. 4
    • Bressman, S.B.1    Rassnick, H.2    Almasy, L.3
  • 17
    • 0029052823 scopus 로고
    • A genetic study of idiopathic focal dystonias
    • Stojanovic M, Cvetkovic D, Kostic VS. A genetic study of idiopathic focal dystonias. J Neurol 1995;242:508-511.
    • (1995) J Neurol , vol.242 , pp. 508-511
    • Stojanovic, M.1    Cvetkovic, D.2    Kostic, V.S.3
  • 18
    • 0030693859 scopus 로고    scopus 로고
    • Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family
    • Leube B, Kessler KR, Goecke T, Auburger G, Benecke R. Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family. Mov Disord 1997;12:1000-1006.
    • (1997) Mov Disord , vol.12 , pp. 1000-1006
    • Leube, B.1    Kessler, K.R.2    Goecke, T.3    Auburger, G.4    Benecke, R.5
  • 19
    • 0034624938 scopus 로고    scopus 로고
    • The DYT1 phenotype and guidelines for diagnostic testing
    • Bressman SB, Sabatti C, Raymond D, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000;54:1746-1752.
    • (2000) Neurology , vol.54 , pp. 1746-1752
    • Bressman, S.B.1    Sabatti, C.2    Raymond, D.3
  • 20
    • 0024457283 scopus 로고
    • Idiopathic torsion dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance
    • Bressman SB, de Leon D, Brin MF, et al. Idiopathic torsion dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol 1989;26:612-620.
    • (1989) Ann Neurol , vol.26 , pp. 612-620
    • Bressman, S.B.1    De Leon, D.2    Brin, M.F.3
  • 21
    • 0027988344 scopus 로고
    • Dystonia in Ashkenazi Jews: Clinical characterisation of a founder mutation
    • Bressman SB, de Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterisation of a founder mutation. Ann Neurol 1994;36:771-777.
    • (1994) Ann Neurol , vol.36 , pp. 771-777
    • Bressman, S.B.1    De Leon, D.2    Kramer, P.L.3
  • 22
    • 16944366666 scopus 로고    scopus 로고
    • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    • Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-48.
    • (1997) Nat Genet , vol.17 , pp. 40-48
    • Ozelius, L.J.1    Hewett, J.W.2    Page, C.E.3
  • 23
    • 0028950638 scopus 로고
    • Spread of symptoms in idiopathic torsion dystonia
    • Greene P, Kang UJ, Fahn S. Spread of symptoms in idiopathic torsion dystonia. Mov Disord 1995;10:143-152.
    • (1995) Mov Disord , vol.10 , pp. 143-152
    • Greene, P.1    Kang, U.J.2    Fahn, S.3
  • 24
    • 0034059944 scopus 로고    scopus 로고
    • Frequency of the DYT1 mutation in primary torsion dystonia without family history
    • Brassat D, Camuzat A, Vidailhet M, et al. Frequency of the DYT1 mutation in primary torsion dystonia without family history. Arch Neurol 2000;57:333-335.
    • (2000) Arch Neurol , vol.57 , pp. 333-335
    • Brassat, D.1    Camuzat, A.2    Vidailhet, M.3
  • 25
    • 0033677544 scopus 로고    scopus 로고
    • The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp
    • Kamm C, Naumann M, Mueller J, et al. The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp. Mov Disord 2000;15:1238-1241.
    • (2000) Mov Disord , vol.15 , pp. 1238-1241
    • Kamm, C.1    Naumann, M.2    Mueller, J.3
  • 27
    • 0032823454 scopus 로고    scopus 로고
    • Risk factors for spread of primary adult onset blepharospasm: A multicentre investigation of the Italian Movement Disorders Study Group
    • Defazio G, Berardelli A, Abbruzzese G, et al. Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian Movement Disorders Study Group. J Neurol Neurosurg Psychiatry 1999;67:613-619.
    • (1999) J Neurol Neurosurg Psychiatry , vol.67 , pp. 613-619
    • Defazio, G.1    Berardelli, A.2    Abbruzzese, G.3
  • 28
    • 0027978063 scopus 로고
    • The behavioural and motor consequences of focal lesions of the basal ganglia in man
    • Bhatia KP, Marsden CD. The behavioural and motor consequences of focal lesions of the basal ganglia in man. Brain 1994;117:859-876.
    • (1994) Brain , vol.117 , pp. 859-876
    • Bhatia, K.P.1    Marsden, C.D.2
  • 29
    • 0030698320 scopus 로고    scopus 로고
    • Unilateral lenticular infarcts: Radiological and clinical syndromes, aetiology and prognosis
    • Giroud M, Lemesle M, Madinier G, Billiar T, Dumas R. Unilateral lenticular infarcts: radiological and clinical syndromes, aetiology and prognosis. J Neurol Neurosurg Psychiatry 1997;63:611-615.
    • (1997) J Neurol Neurosurg Psychiatry , vol.63 , pp. 611-615
    • Giroud, M.1    Lemesle, M.2    Madinier, G.3    Billiar, T.4    Dumas, R.5
  • 30
    • 0036149112 scopus 로고    scopus 로고
    • The natural history and treatment of acquired hemidystonia: A report of 33 cases and a review of the literature
    • Chuang C, Fahn S, Frucht SJ The natural history and treatment of acquired hemidystonia: a report of 33 cases and a review of the literature. J Neurol Neurosurg Psychiatry 2002;72:59-67.
    • (2002) J Neurol Neurosurg Psychiatry , vol.72 , pp. 59-67
    • Chuang, C.1    Fahn, S.2    Frucht, S.J.3
  • 31
    • 0027319394 scopus 로고
    • Basal ganglia infarction as a possible cause of cervical dystonia
    • Molho ES, Factor SA. Basal ganglia infarction as a possible cause of cervical dystonia. Mov Disord 1993;8:213-216.
    • (1993) Mov Disord , vol.8 , pp. 213-216
    • Molho, E.S.1    Factor, S.A.2
  • 32
    • 0029952851 scopus 로고    scopus 로고
    • Lenticular nucleus lesion in idiopathic detected by transcranial sonography
    • Naumann M, Becker G, Tokya KV, et al Lenticular nucleus lesion in idiopathic detected by transcranial sonography Neurology 1996;47:1284-1290.
    • (1996) Neurology , vol.47 , pp. 1284-1290
    • Naumann, M.1    Becker, G.2    Tokya, K.V.3
  • 33
    • 0033846858 scopus 로고    scopus 로고
    • Mapping the basal ganglia. fMRI evidence for somatopic representation of face, hand and foot
    • Maillard L, Ishii K, Bushara K, Waldvogel D, Schulman AE, Hallett M. Mapping the basal ganglia. fMRI evidence for somatopic representation of face, hand and foot. Neurology 2000;55:377-383.
    • (2000) Neurology , vol.55 , pp. 377-383
    • Maillard, L.1    Ishii, K.2    Bushara, K.3    Waldvogel, D.4    Schulman, A.E.5    Hallett, M.6
  • 34
    • 0037297410 scopus 로고    scopus 로고
    • Foot, hand, face and eye representation in the human striatum
    • Gerardin E, Lehericy S, Pochon JB, et al. Foot, hand, face and eye representation in the human striatum. Cereb Cortex 2003;13:162-169.
    • (2003) Cereb Cortex , vol.13 , pp. 162-169
    • Gerardin, E.1    Lehericy, S.2    Pochon, J.B.3
  • 35
    • 0025821265 scopus 로고
    • Alterations in the levels of iron, ferritin, other trace metals in Parkinson's disease, other neurodegenerative diseases affecting the basal ganglia
    • Dexter DT, Carayon A, Javoy-Agid F, et al. Alterations in the levels of iron, ferritin, other trace metals in Parkinson's disease, other neurodegenerative diseases affecting the basal ganglia. Brain 1991;114:1953-1957.
    • (1991) Brain , vol.114 , pp. 1953-1957
    • Dexter, D.T.1    Carayon, A.2    Javoy-Agid, F.3
  • 36
    • 0031930949 scopus 로고    scopus 로고
    • Increasing striatal iron content associated with normal aging
    • Martin WRW, Ye FQ, Allen PS. Increasing striatal iron content associated with normal aging. Mov Disord 1998;13:281-286.
    • (1998) Mov Disord , vol.13 , pp. 281-286
    • Martin, W.R.W.1    Ye, F.Q.2    Allen, P.S.3
  • 37
    • 0029095202 scopus 로고
    • Autoradiographic localisation and density of [125]ferrotransferrin binding sites in the basal ganglia of control subjects, patients with Parkinson's disease and MPTP-lesioned monkeys
    • Faucheux BA, Herrero MT, Villares J, et al. Autoradiographic localisation and density of [125]ferrotransferrin binding sites in the basal ganglia of control subjects, patients with Parkinson's disease and MPTP-lesioned monkeys. Brain Res 1995;691:115-124.
    • (1995) Brain Res , vol.691 , pp. 115-124
    • Faucheux, B.A.1    Herrero, M.T.2    Villares, J.3
  • 38
    • 0030602079 scopus 로고    scopus 로고
    • Magnetic resonance imaging changes in putamen nuclei iron content and distribution in normal subjects
    • Steffens DC, McDonald WM, Tupler LA, Boyko OB, Krishnan KR. Magnetic resonance imaging changes in putamen nuclei iron content and distribution in normal subjects. Psychiatry Res 1996;68:55-61.
    • (1996) Psychiatry Res , vol.68 , pp. 55-61
    • Steffens, D.C.1    McDonald, W.M.2    Tupler, L.A.3    Boyko, O.B.4    Krishnan, K.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.