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Volumn 26, Issue 6, 2011, Pages 1134-1141

Milestones in Ataxia

Author keywords

Ataxia; Clinical scale; DNA repair; Ion channel dysfunction; Mitochondrial dysfunction; Polyglutamine disorders

Indexed keywords

ATAXIN 1; ATAXIN 3; ATAXIN 7; PROTEIN KINASE C;

EID: 79957594670     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23559     Document Type: Review
Times cited : (75)

References (48)
  • 1
    • 0000834705 scopus 로고
    • An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia
    • Holmes G. An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia. Brain. 1907; 30: 545-567.
    • (1907) Brain , vol.30 , pp. 545-567
    • Holmes, G.1
  • 3
    • 0020641096 scopus 로고
    • Classification of the hereditary ataxias and paraplegias
    • Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet. 1983; 1: 1151-1155.
    • (1983) Lancet , vol.1 , pp. 1151-1155
    • Harding, A.E.1
  • 4
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr HT, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993; 4: 221-226.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.Y.2    Banfi, S.3
  • 5
    • 11144356369 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
    • Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004; 3: 291-304.
    • (2004) Lancet Neurol , vol.3 , pp. 291-304
    • Schöls, L.1    Bauer, P.2    Schmidt, T.3    Schulte, T.4    Riess, O.5
  • 6
    • 77955636420 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
    • Dürr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010; 9: 885-894.
    • (2010) Lancet Neurol , vol.9 , pp. 885-894
    • Dürr, A.1
  • 7
    • 0029057336 scopus 로고
    • A single ataxia telangiectasia gene with a product similar to PI- 3 kinase
    • Savitsky K, Bar-Shira A, Gilad S, et al. A single ataxia telangiectasia gene with a product similar to PI- 3 kinase. Science. 1995; 268: 1749-1753.
    • (1995) Science , vol.268 , pp. 1749-1753
    • Savitsky, K.1    Bar-Shira, A.2    Gilad, S.3
  • 8
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V, Montermini L, Moltò MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996; 271: 1423-1427.
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Moltò, M.D.3
  • 9
    • 33846882183 scopus 로고    scopus 로고
    • Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
    • Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007; 6: 245-257.
    • (2007) Lancet Neurol , vol.6 , pp. 245-257
    • Fogel, B.L.1    Perlman, S.2
  • 10
    • 33845323746 scopus 로고    scopus 로고
    • Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1
    • Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol. 2007; 6: 45-55.
    • (2007) Lancet Neurol , vol.6 , pp. 45-55
    • Jacquemont, S.1    Hagerman, R.J.2    Hagerman, P.J.3    Leehey, M.A.4
  • 11
    • 0026708036 scopus 로고
    • Machado-Joseph disease: an autosomal dominant motor system degeneration
    • Rosenberg RN. Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord. 1992; 7: 193-203.
    • (1992) Mov Disord , vol.7 , pp. 193-203
    • Rosenberg, R.N.1
  • 12
    • 9244225693 scopus 로고    scopus 로고
    • Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
    • Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features. Ann Neurol. 1996; 39: 490-499.
    • (1996) Ann Neurol , vol.39 , pp. 490-499
    • Dürr, A.1    Stevanin, G.2    Cancel, G.3
  • 13
    • 2642589007 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?
    • Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes? Ann Neurol. 1997; 42: 924-932.
    • (1997) Ann Neurol. , vol.42 , pp. 924-932
    • Schöls, L.1    Amoiridis, G.2    Büttner, T.3    Przuntek, H.4    Epplen, J.T.5    Riess, O.6
  • 14
    • 0029047109 scopus 로고
    • Correlation between CAG repeat length and clinical features in Machado-Joseph disease
    • Maciel P, Gaspar C, DeStefano AL, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet. 1995; 57: 54-61.
    • (1995) Am J Hum Genet , vol.57 , pp. 54-61
    • Maciel, P.1    Gaspar, C.2    DeStefano, A.L.3
  • 15
    • 0029821176 scopus 로고    scopus 로고
    • Clinical and genetic abnormalities in patients with Friedreich's ataxia
    • Dürr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. 1996; 335: 1169-1175.
    • (1996) N Engl J Med , vol.335 , pp. 1169-1175
    • Dürr, A.1    Cossee, M.2    Agid, Y.3
  • 16
    • 70349957925 scopus 로고    scopus 로고
    • Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
    • Anheim M, Monga B, Fleury M, et al. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain. 2009; 132: 2688-2698.
    • (2009) Brain , vol.132 , pp. 2688-2698
    • Anheim, M.1    Monga, B.2    Fleury, M.3
  • 17
    • 0024474837 scopus 로고
    • Multiple system atrophy-the nature of the beast
    • Quinn N. Multiple system atrophy-the nature of the beast. J Neurol Neurosurg Psychiatry. 1989; Suppl: 78-89.
    • (1989) J Neurol Neurosurg Psychiatry , Issue.SUPPL. , pp. 78-89
    • Quinn, N.1
  • 18
    • 0036238233 scopus 로고    scopus 로고
    • The aetiology of sporadic adult-onset ataxia
    • Abele M, Bürk K, Schöls L, et al. The aetiology of sporadic adult-onset ataxia. Brain. 2002; 125: 961-968.
    • (2002) Brain , vol.125 , pp. 961-968
    • Abele, M.1    Bürk, K.2    Schöls, L.3
  • 19
    • 0028819081 scopus 로고
    • Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms
    • Genis D, Matilla T, Volpini V, et al. Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology. 1995; 45: 24-30.
    • (1995) Neurology , vol.45 , pp. 24-30
    • Genis, D.1    Matilla, T.2    Volpini, V.3
  • 20
    • 0024843373 scopus 로고
    • Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome)
    • Papp MI, Kahn JE, Lantos PL. Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome). J Neurol Sci. 1989; 94: 79-100.
    • (1989) J Neurol Sci , vol.94 , pp. 79-100
    • Papp, M.I.1    Kahn, J.E.2    Lantos, P.L.3
  • 21
    • 0031713491 scopus 로고    scopus 로고
    • Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein
    • Tu PH, Galvin JE, Baba M, et al. Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein. Ann Neurol. 1998; 44: 415-422.
    • (1998) Ann Neurol , vol.44 , pp. 415-422
    • Tu, P.H.1    Galvin, J.E.2    Baba, M.3
  • 22
    • 0025876335 scopus 로고
    • Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study
    • Polo JM, Calleja J, Combarros O, Berciano J. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain. 1991; 114: 855-866.
    • (1991) Brain , vol.114 , pp. 855-866
    • Polo, J.M.1    Calleja, J.2    Combarros, O.3    Berciano, J.4
  • 23
    • 0037066111 scopus 로고    scopus 로고
    • Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis
    • van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology. 2002; 58: 702-708.
    • (2002) Neurology , vol.58 , pp. 702-708
    • van de Warrenburg, B.P.1    Sinke, R.J.2    Verschuuren-Bemelmans, C.C.3
  • 24
    • 67649395907 scopus 로고    scopus 로고
    • Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study
    • Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM. Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain. 2009; 132: 1577-1588.
    • (2009) Brain , vol.132 , pp. 1577-1588
    • Erichsen, A.K.1    Koht, J.2    Stray-Pedersen, A.3    Abdelnoor, M.4    Tallaksen, C.M.5
  • 25
    • 0028965481 scopus 로고
    • Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: a study of prevalence and disability
    • Leone M, Bottacchi E, D'Alessandro G, Kustermann S. Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: a study of prevalence and disability. Acta Neurol Scand. 1995; 91: 183-187.
    • (1995) Acta Neurol Scand , vol.91 , pp. 183-187
    • Leone, M.1    Bottacchi, E.2    D'Alessandro, G.3    Kustermann, S.4
  • 26
    • 3442875652 scopus 로고    scopus 로고
    • Population based study of late onset cerebellar ataxia in south east Wales
    • Muzaimi MB, Thomas J, Palmer-Smith S, et al. Population based study of late onset cerebellar ataxia in south east Wales. J Neurol Neurosurg Psychiatry. 2004; 75: 1129-1134.
    • (2004) J Neurol Neurosurg Psychiatry , vol.75 , pp. 1129-1134
    • Muzaimi, M.B.1    Thomas, J.2    Palmer-Smith, S.3
  • 27
    • 65849376966 scopus 로고    scopus 로고
    • Sporadic ataxias in Japan-a population-based epidemiological study
    • Tsuji S, Onodera O, Goto J, Nishizawa M. Sporadic ataxias in Japan-a population-based epidemiological study. Cerebellum. 2008; 7: 189-197.
    • (2008) Cerebellum , vol.7 , pp. 189-197
    • Tsuji, S.1    Onodera, O.2    Goto, J.3    Nishizawa, M.4
  • 28
    • 2942731275 scopus 로고    scopus 로고
    • Pharmacological treatments of cerebellar ataxia
    • Ogawa M. Pharmacological treatments of cerebellar ataxia. Cerebellum. 2004; 3: 107-111.
    • (2004) Cerebellum , vol.3 , pp. 107-111
    • Ogawa, M.1
  • 30
    • 72049115219 scopus 로고    scopus 로고
    • Sporadic ataxia with adult onset: classification and diagnostic criteria
    • Klockgether T. Sporadic ataxia with adult onset: classification and diagnostic criteria. Lancet Neurol. 2010; 9: 94-104.
    • (2010) Lancet Neurol , vol.9 , pp. 94-104
    • Klockgether, T.1
  • 31
    • 54049124218 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 1, 2, 3, and 6. Disease severity and nonataxia symptoms
    • Schmitz-Hübsch T, Coudert M, Bauer P, et al. Spinocerebellar ataxia type 1, 2, 3, and 6. Disease severity and nonataxia symptoms. Neurology. 2008; 71: 982-989.
    • (2008) Neurology , vol.71 , pp. 982-989
    • Schmitz-Hübsch, T.1    Coudert, M.2    Bauer, P.3
  • 32
    • 65849376966 scopus 로고    scopus 로고
    • Sporadic ataxias in Japan-a population-based epidemiological study
    • Tsuji S, Onodera O, Goto J, Nishizawa M. Sporadic ataxias in Japan-a population-based epidemiological study. Cerebellum. 2008; 7: 189-197.
    • (2008) Cerebellum , vol.7 , pp. 189-197
    • Tsuji, S.1    Onodera, O.2    Goto, J.3    Nishizawa, M.4
  • 33
    • 33745677486 scopus 로고    scopus 로고
    • Scale for the assessment and rating of ataxia: development of a new clinical scale
    • Schmitz-Hübsch T, Tezenas du Moncel S, Berciano J, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006; 66: 1717-1720.
    • (2006) Neurology , vol.66 , pp. 1717-1720
    • Schmitz-Hübsch, T.1    Tezenas du Moncel, S.2    Berciano, J.3
  • 34
    • 77950596776 scopus 로고    scopus 로고
    • Health-related quality of life in children with Friedreich ataxia
    • Paulsen EK, Friedman LS, Myers LM, Lynch DR. Health-related quality of life in children with Friedreich ataxia. Pediatr Neurol. 2010; 42: 335-337.
    • (2010) Pediatr Neurol , vol.42 , pp. 335-337
    • Paulsen, E.K.1    Friedman, L.S.2    Myers, L.M.3    Lynch, D.R.4
  • 35
    • 25844487226 scopus 로고    scopus 로고
    • Diseases of unstable repeat expansion: mechanisms and common principles
    • Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet. 2005; 6: 743-755.
    • (2005) Nat Rev Genet , vol.6 , pp. 743-755
    • Gatchel, J.R.1    Zoghbi, H.Y.2
  • 36
    • 77950529265 scopus 로고    scopus 로고
    • RNA-mediated neurodegeneration in repeat expansion disorders
    • Todd PK, Paulson HL. RNA-mediated neurodegeneration in repeat expansion disorders. Ann Neurol. 2010; 67: 291-300.
    • (2010) Ann Neurol , vol.67 , pp. 291-300
    • Todd, P.K.1    Paulson, H.L.2
  • 37
    • 52049093169 scopus 로고    scopus 로고
    • Polyglutamine neurodegeneration: protein misfolding revisited
    • Williams AJ, Paulson HL. Polyglutamine neurodegeneration: protein misfolding revisited. Trends Neurosci. 2008; 31: 521-528.
    • (2008) Trends Neurosci , vol.31 , pp. 521-528
    • Williams, A.J.1    Paulson, H.L.2
  • 38
    • 42049086100 scopus 로고    scopus 로고
    • Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1
    • Lim J, Crespo-Barreto J, Jafar-Nejad P, et al. Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature. 2008; 452: 713-718.
    • (2008) Nature , vol.452 , pp. 713-718
    • Lim, J.1    Crespo-Barreto, J.2    Jafar-Nejad, P.3
  • 39
    • 70350455502 scopus 로고    scopus 로고
    • Physiologic alterations in ataxia: channeling changes into novel therapies
    • Shakkottai VG, Paulson HL. Physiologic alterations in ataxia: channeling changes into novel therapies. Arch Neurol. 2009; 66: 1196-1201.
    • (2009) Arch Neurol , vol.66 , pp. 1196-1201
    • Shakkottai, V.G.1    Paulson, H.L.2
  • 40
    • 45449088310 scopus 로고    scopus 로고
    • DNA strand breaks, neurodegeneration and aging in the brain
    • Katyal S, McKinnon PJ. DNA strand breaks, neurodegeneration and aging in the brain. Mech Ageing Dev. 2008; 129: 483-491.
    • (2008) Mech Ageing Dev , vol.129 , pp. 483-491
    • Katyal, S.1    McKinnon, P.J.2
  • 41
    • 77953902544 scopus 로고    scopus 로고
    • Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches
    • Schmucker S, Puccio H. Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches. Hum Mol Genet. 2010; 19: R103-R110.
    • (2010) Hum Mol Genet , vol.19
    • Schmucker, S.1    Puccio, H.2
  • 42
    • 77955450939 scopus 로고    scopus 로고
    • A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia
    • Lynch DR, Perlman SL, Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia. Arch Neurol. 2010; 67: 941-947.
    • (2010) Arch Neurol , vol.67 , pp. 941-947
    • Lynch, D.R.1    Perlman, S.L.2    Meier, T.3
  • 43
    • 4043057946 scopus 로고    scopus 로고
    • RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia
    • Xia H, Mao Q, Eliason SL, et al. RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med. 2004; 10: 816-820.
    • (2004) Nat Med , vol.10 , pp. 816-820
    • Xia, H.1    Mao, Q.2    Eliason, S.L.3
  • 44
    • 75249096093 scopus 로고    scopus 로고
    • Development of histone deacetylase inhibitors as therapeutics for neurological disease
    • Gottesfeld JM, Pandolfo M. Development of histone deacetylase inhibitors as therapeutics for neurological disease. Future Neurol. 2009; 4: 775-784.
    • (2009) Future Neurol , vol.4 , pp. 775-784
    • Gottesfeld, J.M.1    Pandolfo, M.2
  • 45
    • 34249675397 scopus 로고    scopus 로고
    • Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model
    • Watase K, Gatchel JR, Sun Y, et al. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med. 2007; 4: e182.
    • (2007) PLoS Med. , vol.4
    • Watase, K.1    Gatchel, J.R.2    Sun, Y.3
  • 46
    • 74249103961 scopus 로고    scopus 로고
    • Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3
    • Menzies FM, Huebener J, Renna M, Bonin M, Riess O, Rubinsztein DC. Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. Brain. 2010; 133: 93-104.
    • (2010) Brain , vol.133 , pp. 93-104
    • Menzies, F.M.1    Huebener, J.2    Renna, M.3    Bonin, M.4    Riess, O.5    Rubinsztein, D.C.6
  • 47
    • 58149375272 scopus 로고    scopus 로고
    • Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3
    • Chen X, Tang TS, Tu H, et al. Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3. J Neurosci. 2008; 28: 12713-12724.
    • (2008) J Neurosci , vol.28 , pp. 12713-12724
    • Chen, X.1    Tang, T.S.2    Tu, H.3
  • 48
    • 76549131779 scopus 로고    scopus 로고
    • Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management
    • Anheim M, Fleury M, Monga B, et al. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics. 2010; 11: 1-12.
    • (2010) Neurogenetics , vol.11 , pp. 1-12
    • Anheim, M.1    Fleury, M.2    Monga, B.3


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