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Volumn 7, Issue 2, 2008, Pages 97-100

The highly heterogeneous spinocerebellar ataxias: From genes to targets for therapeutic intervention

Author keywords

Cerebellum; Neuropathology; Spinocerebellar ataxias; Therapy

Indexed keywords

AMINO ACID; GLUTAMINE; POLYGLUTAMINE; RNA;

EID: 54249085676     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-008-0020-5     Document Type: Editorial
Times cited : (11)

References (35)
  • 1
    • 33745088678 scopus 로고    scopus 로고
    • Molecular pathogenesis of spinocerebellar ataxias
    • A Matilla-Dueñas R Goold P Giunti 2006 Molecular pathogenesis of spinocerebellar ataxias Brain 129 1357 1370
    • (2006) Brain , vol.129 , pp. 1357-1370
    • Matilla-Dueñas, A.1    Goold, R.2    Giunti, P.3
  • 2
    • 33745545413 scopus 로고    scopus 로고
    • Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8
    • ML Moseley T Zu Y Ikeda W Gao AK Mosemiller RS Daughters 2006 Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8 Nat Genet 38 758 769
    • (2006) Nat Genet , vol.38 , pp. 758-769
    • Moseley, M.L.1    Zu, T.2    Ikeda, Y.3    Gao, W.4    Mosemiller, A.K.5    Daughters, R.S.6
  • 3
    • 33646687963 scopus 로고    scopus 로고
    • A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration
    • J Lim T Hao C Shaw AJ Patel G Szabo JF Rual 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration Cell 125 801 814
    • (2006) Cell , vol.125 , pp. 801-814
    • Lim, J.1    Hao, T.2    Shaw, C.3    Patel, A.J.4    Szabo, G.5    Rual, J.F.6
  • 5
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
    • G Imbert F Saudou G Yvert D Devys Y Trottier JM Garnier 1996 Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats Nat Genet 14 285 291
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3    Devys, D.4    Trottier, Y.5    Garnier, J.M.6
  • 7
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
    • K Sanpei H Takano S Igarashi T Sato M Oyake H Sasaki 1996 Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT Nat Genet 14 277 284
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3    Sato, T.4    Oyake, M.5    Sasaki, H.6
  • 9
    • 0029792130 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
    • K Flanigan K Gardner K Alderson B Galster B Otterud MF Leppert 1996 Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1 Am J Hum Genet 59 392 399
    • (1996) Am J Hum Genet , vol.59 , pp. 392-399
    • Flanigan, K.1    Gardner, K.2    Alderson, K.3    Galster, B.4    Otterud, B.5    Leppert, M.F.6
  • 11
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • O Zhuchenko J Bailey P Bonnen T Ashizawa DW Stockton C Amos 1997 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel Nat Genet 15 62 69
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3    Ashizawa, T.4    Stockton, D.W.5    Amos, C.6
  • 12
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    • G David N Abbas G Stevanin A Durr G Yvert G Cancel 1997 Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion Nat Genet 17 65 70
    • (1997) Nat Genet , vol.17 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3    Durr, A.4    Yvert, G.5    Cancel, G.6
  • 15
    • 0033358555 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type III: Linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3
    • PF Worth P Giunti C Gardner-Thorpe PH Dixon WoodNW Davis MB 1999 Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3 Am J Hum Genet 65 420 426
    • (1999) Am J Hum Genet , vol.65 , pp. 420-426
    • Worth, P.F.1    Giunti, P.2    Gardner-Thorpe, C.3    Dixon, P.H.4    Woodnw D.Mb5
  • 17
    • 33645421783 scopus 로고    scopus 로고
    • Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
    • MF Waters NA Minassian G Stevanin KP Figueroa JP Bannister D Nolte 2006 Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes Nat Genet 38 447 451
    • (2006) Nat Genet , vol.38 , pp. 447-451
    • Waters, M.F.1    Minassian, N.A.2    Stevanin, G.3    Figueroa, K.P.4    Bannister, J.P.5    Nolte, D.6
  • 18
    • 0037385006 scopus 로고    scopus 로고
    • Missense mutations in the regulatory domain of PKCgamma: A new mechanism for dominant nonepisodic cerebellar ataxia
    • DH Chen Z Brkanac CL Verlinde XJ Tan L Bylenok D Nochlin 2003 Missense mutations in the regulatory domain of PKCgamma: A new mechanism for dominant nonepisodic cerebellar ataxia Am J Hum Genet 72 839 849
    • (2003) Am J Hum Genet , vol.72 , pp. 839-849
    • Chen, D.H.1    Brkanac, Z.2    Verlinde, C.L.3    Tan, X.J.4    Bylenok, L.5    Nochlin, D.6
  • 20
    • 0035838438 scopus 로고    scopus 로고
    • A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1
    • Y Miyoshi T Yamada M Tanimura T Taniwaki K Arakawa Y Ohyagi 2001 A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1 Neurol 57 96 100
    • (2001) Neurol , vol.57 , pp. 96-100
    • Miyoshi, Y.1    Yamada, T.2    Tanimura, M.3    Taniwaki, T.4    Arakawa, K.5    Ohyagi, Y.6
  • 21
    • 0035393427 scopus 로고    scopus 로고
    • SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
    • K Nakamura SY Jeong T Uchihara M Anno K Nagashima T Nagashima 2001 SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein Hum Mol Genet 10 1441 1448
    • (2001) Hum Mol Genet , vol.10 , pp. 1441-1448
    • Nakamura, K.1    Jeong, S.Y.2    Uchihara, T.3    Anno, M.4    Nagashima, K.5    Nagashima, T.6
  • 23
    • 0036820509 scopus 로고    scopus 로고
    • Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
    • DS Verbeek JH Schelhaas EF Ippel FA Beemer PL Pearson RJ Sinke 2002 Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21 Hum Genet 111 388 393
    • (2002) Hum Genet , vol.111 , pp. 388-393
    • Verbeek, D.S.1    Schelhaas, J.H.2    Ippel, E.F.3    Beemer, F.A.4    Pearson, P.L.5    Sinke, R.J.6
  • 24
    • 2442527917 scopus 로고    scopus 로고
    • Dominantly inherited ataxia and dysphonia with dentate calcification: Spinocerebellar ataxia type 20
    • MA Knight RJ Gardner M Bahlo T Matsuura JA Dixon SM Forrest 2004 Dominantly inherited ataxia and dysphonia with dentate calcification: Spinocerebellar ataxia type 20 Brain 127 1172 1181
    • (2004) Brain , vol.127 , pp. 1172-1181
    • Knight, M.A.1    Gardner, R.J.2    Bahlo, M.3    Matsuura, T.4    Dixon, J.A.5    Forrest, S.M.6
  • 26
    • 0037677603 scopus 로고    scopus 로고
    • A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23
    • MY Chung YC Lu NC Cheng BW Soong 2003 A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23 Brain 126 1293 1299
    • (2003) Brain , vol.126 , pp. 1293-1299
    • Chung, M.Y.1    Lu, Y.C.2    Cheng, N.C.3    Soong, B.W.4
  • 27
    • 8144221193 scopus 로고    scopus 로고
    • Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
    • DS Verbeek BP van de Warrenburg P Wesseling PL Pearson HP Kremer RJ Sinke 2004 Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3 Brain 127 2551 2557
    • (2004) Brain , vol.127 , pp. 2551-2557
    • Verbeek, D.S.1    Van De Warrenburg, B.P.2    Wesseling, P.3    Pearson, P.L.4    Kremer, H.P.5    Sinke, R.J.6
  • 28
    • 0036237387 scopus 로고    scopus 로고
    • A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus
    • BE Swartz M Burmeister JT Somers KG Rottach IN Bespalova RJ Leigh 2002 A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus Ann N Y Acad Sci 956 441 444
    • (2002) Ann N y Acad Sci , vol.956 , pp. 441-444
    • Swartz, B.E.1    Burmeister, M.2    Somers, J.T.3    Rottach, K.G.4    Bespalova, I.N.5    Leigh, R.J.6
  • 30
    • 14844297397 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6
    • GY Yu MJ Howell MJ Roller TD Xie CM Gomez 2005 Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6 Ann Neurol 57 349 354
    • (2005) Ann Neurol , vol.57 , pp. 349-354
    • Yu, G.Y.1    Howell, M.J.2    Roller, M.J.3    Xie, T.D.4    Gomez, C.M.5
  • 32
    • 30344475206 scopus 로고    scopus 로고
    • SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2
    • C Cagnoli C Mariotti F Taroni M Seri A Brussino C Michielotto 2006 SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 Brain 129 235 242
    • (2006) Brain , vol.129 , pp. 235-242
    • Cagnoli, C.1    Mariotti, C.2    Taroni, F.3    Seri, M.4    Brussino, A.5    Michielotto, C.6
  • 33
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral- pallidoluysian atrophy (DRPLA)
    • R Koide T Ikeuchi O Onodera H Tanaka S Igarashi K Endo 1994 Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) Nat Genet 6 9 13
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3    Tanaka, H.4    Igarashi, S.5    Endo, K.6
  • 34
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
    • S Nagafuchi H Yanagisawa K Sato T Shirayama E Ohsaki M Bundo 1994 Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p Nat Genet 6 14 18
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3    Shirayama, T.4    Ohsaki, E.5    Bundo, M.6
  • 35
    • 22544448383 scopus 로고    scopus 로고
    • An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a singlenucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains
    • K Ishikawa S Toru T Tsunemi M Li K Kobayashi T Yokota 2005 An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a singlenucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains Am J Hum Genet 77 280 296
    • (2005) Am J Hum Genet , vol.77 , pp. 280-296
    • Ishikawa, K.1    Toru, S.2    Tsunemi, T.3    Li, M.4    Kobayashi, K.5    Yokota, T.6


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