메뉴 건너뛰기




Volumn 20, Issue 11, 2005, Pages 1521-1523

Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

Author keywords

Basal ganglia; Magnetic resonance imaging; SCA 17

Indexed keywords

TATA BINDING PROTEIN;

EID: 30444440181     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.20529     Document Type: Article
Times cited : (37)

References (25)
  • 1
    • 0032885515 scopus 로고    scopus 로고
    • A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
    • Koide R, Kobayashi S, Shimohata T, et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 1999;8:2047-2053.
    • (1999) Hum Mol Genet , vol.8 , pp. 2047-2053
    • Koide, R.1    Kobayashi, S.2    Shimohata, T.3
  • 2
    • 12144286184 scopus 로고    scopus 로고
    • Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype
    • Bauer P, Laccone F, Rolfs A, et al. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet 2004;4:230-232.
    • (2004) J Med Genet , vol.4 , pp. 230-232
    • Bauer, P.1    Laccone, F.2    Rolfs, A.3
  • 3
    • 4043175666 scopus 로고    scopus 로고
    • Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation
    • Bruni AC, Takahashi-Fujigasaki J, Maltecca F, et al. Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. Arch Neurol 2004;61:1314-1320.
    • (2004) Arch Neurol , vol.61 , pp. 1314-1320
    • Bruni, A.C.1    Takahashi-Fujigasaki, J.2    Maltecca, F.3
  • 4
    • 2442464954 scopus 로고    scopus 로고
    • Molecular genetics of hereditary spinocerebellar ataxia: Mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families
    • Brusco A, Gellera C, Cagnoli C, et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 2004;61:727-733.
    • (2004) Arch Neurol , vol.61 , pp. 727-733
    • Brusco, A.1    Gellera, C.2    Cagnoli, C.3
  • 5
    • 0142248484 scopus 로고    scopus 로고
    • Dementia, ataxia, extrapyramidal features, and epilepsy: Phenotype spectrum in two Italian families with spinocerebellar ataxia type 17
    • De Michele G, Maltecca F, Carella M, et al. Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. Neurol Sci 2003;24:166-167.
    • (2003) Neurol Sci , vol.24 , pp. 166-167
    • De Michele, G.1    Maltecca, F.2    Carella, M.3
  • 6
    • 0034783914 scopus 로고    scopus 로고
    • CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia
    • Fujigasaki H, Martin JJ, De Deyn PP, et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 2001;24:1939-1947.
    • (2001) Brain , vol.24 , pp. 1939-1947
    • Fujigasaki, H.1    Martin, J.J.2    De Deyn, P.P.3
  • 7
    • 3442890310 scopus 로고    scopus 로고
    • Basal ganglia involvement of a patient with SCA 17: A new form of autosomal dominant spinocerebellar ataxia
    • Gunther P, Storch A, Schwarz J, et al. Basal ganglia involvement of a patient with SCA 17: a new form of autosomal dominant spinocerebellar ataxia. J Neurol 2004;251:896-897.
    • (2004) J Neurol , vol.251 , pp. 896-897
    • Gunther, P.1    Storch, A.2    Schwarz, J.3
  • 9
    • 10744221735 scopus 로고    scopus 로고
    • Intergenerational instability and marked anticipation in SCA-17
    • Maltecca F, Filla A, Castaldo I, et al. Intergenerational instability and marked anticipation in SCA-17. Neurology 2003;61:1441-1443.
    • (2003) Neurology , vol.61 , pp. 1441-1443
    • Maltecca, F.1    Filla, A.2    Castaldo, I.3
  • 10
    • 0035393427 scopus 로고    scopus 로고
    • SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
    • Nakamura K, Jeong SY, Uchihara T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 2001;10:1441-1448.
    • (2001) Hum Mol Genet , vol.10 , pp. 1441-1448
    • Nakamura, K.1    Jeong, S.Y.2    Uchihara, T.3
  • 11
    • 10744232450 scopus 로고    scopus 로고
    • Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17
    • Oda M, Maruyama H, Komure O, et al. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. Arch Neurol 2004;61:209-212.
    • (2004) Arch Neurol , vol.61 , pp. 209-212
    • Oda, M.1    Maruyama, H.2    Komure, O.3
  • 12
    • 0042837890 scopus 로고    scopus 로고
    • Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
    • Rolfs A, Koeppen AH, Bauer I, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003;54:367-375.
    • (2003) Ann Neurol , vol.54 , pp. 367-375
    • Rolfs, A.1    Koeppen, A.H.2    Bauer, I.3
  • 13
    • 0036220140 scopus 로고    scopus 로고
    • Trinucleotide repeats in 202 families with ataxia: A small expanded (CAG)n allele at the SCA17 locus
    • Silveira I, Miranda C, Guimaraes L, et al. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol 2002;59:623-629.
    • (2002) Arch Neurol , vol.59 , pp. 623-629
    • Silveira, I.1    Miranda, C.2    Guimaraes, L.3
  • 14
    • 0037819516 scopus 로고    scopus 로고
    • Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes
    • Stevanin G, Fujigasaki H, Lebre AS, et al. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain 2003;126:1599-1603.
    • (2003) Brain , vol.126 , pp. 1599-1603
    • Stevanin, G.1    Fujigasaki, H.2    Lebre, A.S.3
  • 15
    • 0842282678 scopus 로고    scopus 로고
    • SCA17 homozygote showing Huntington's disease-like phenotype
    • Toyoshima Y, Yamada M, Onodera O, et al. SCA17 homozygote showing Huntington's disease-like phenotype. Ann Neurol 2004; 55:281-286.
    • (2004) Ann Neurol , vol.55 , pp. 281-286
    • Toyoshima, Y.1    Yamada, M.2    Onodera, O.3
  • 16
    • 0035076389 scopus 로고    scopus 로고
    • Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia
    • Zuhlke C, Hellenbroich Y, Dalski A, et al. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Eur J Hum Genet 2001;9:160-164.
    • (2001) Eur J Hum Genet , vol.9 , pp. 160-164
    • Zuhlke, C.1    Hellenbroich, Y.2    Dalski, A.3
  • 17
    • 0037321835 scopus 로고    scopus 로고
    • Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?
    • Zuhlke C, Gehlken U, Hellenbroich Y, Schwinger E, Burk K. Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17? J Neurol 2003;250: 161-163.
    • (2003) J Neurol , vol.250 , pp. 161-163
    • Zuhlke, C.1    Gehlken, U.2    Hellenbroich, Y.3    Schwinger, E.4    Burk, K.5
  • 18
    • 0042921421 scopus 로고    scopus 로고
    • SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6
    • Zuhlke CH, Spranger M, Spranger S, et al. SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6. Eur J Hum Genet 2003;11:629-632.
    • (2003) Eur J Hum Genet , vol.11 , pp. 629-632
    • Zuhlke, C.H.1    Spranger, M.2    Spranger, S.3
  • 19
    • 0027445452 scopus 로고
    • "Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: Analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes
    • Gostout B, Liu Q, Sommer SS. "Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes. Am J Hum Genet 1993; 52:1182-1190.
    • (1993) Am J Hum Genet , vol.52 , pp. 1182-1190
    • Gostout, B.1    Liu, Q.2    Sommer, S.S.3
  • 20
    • 0027240431 scopus 로고
    • Trinucleotide repeat length instability and age of onset in Huntington's disease
    • Duyao M, Ambrose C, Myers R, et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 1993;4:387-392.
    • (1993) Nat Genet , vol.4 , pp. 387-392
    • Duyao, M.1    Ambrose, C.2    Myers, R.3
  • 21
    • 0037732858 scopus 로고    scopus 로고
    • SCA2 may present as levodopa-responsive parkinsonism
    • Payami H, Nutt J, Gancher S, et al. SCA2 may present as levodopa-responsive parkinsonism. Mov Disord 2003;18:425-429.
    • (2003) Mov Disord , vol.18 , pp. 425-429
    • Payami, H.1    Nutt, J.2    Gancher, S.3
  • 22
    • 0028075992 scopus 로고
    • High intensity in the globus pallidus on proton and T2-weighted MRI in a case of dentato-ruburo-pallido-luysian atrophy of myoclonus epilepsy type
    • Imamura A, Sugai K, Watanabe S, Hamada F, Kurashige T, Takashima S. High intensity in the globus pallidus on proton and T2-weighted MRI in a case of dentato-ruburo-pallido-luysian atrophy of myoclonus epilepsy type. Acta Paediatr Jpn 1994;36:527-530.
    • (1994) Acta Paediatr Jpn , vol.36 , pp. 527-530
    • Imamura, A.1    Sugai, K.2    Watanabe, S.3    Hamada, F.4    Kurashige, T.5    Takashima, S.6
  • 23
    • 0031965349 scopus 로고    scopus 로고
    • Cerebral hypoperfusion and hypometabolism with altered striatal signal intensity in choreaacanthocytosis: A combined PET and MRI study
    • Tanaka M, Hirai S, Kondo S, et al. Cerebral hypoperfusion and hypometabolism with altered striatal signal intensity in choreaacanthocytosis: a combined PET and MRI study. Mov Disord 1998;13:100-107.
    • (1998) Mov Disord , vol.13 , pp. 100-107
    • Tanaka, M.1    Hirai, S.2    Kondo, S.3
  • 25
    • 0031813412 scopus 로고    scopus 로고
    • Clinical usefulness of magnetic resonance imaging in multiple system atrophy
    • Schrag A, Kingsley D, Phatouros C, et al. Clinical usefulness of magnetic resonance imaging in multiple system atrophy. J Neurol Neurosurg Psychiatry 1998;65:65-71.
    • (1998) J Neurol Neurosurg Psychiatry , vol.65 , pp. 65-71
    • Schrag, A.1    Kingsley, D.2    Phatouros, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.