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Volumn 79, Issue 18, 2012, Pages 1898-1907

New insights and the need for revised diagnostic criteria

Author keywords

[No Author keywords available]

Indexed keywords

IOFLUPANE I 123;

EID: 84871320088     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318271f7ff     Document Type: Article
Times cited : (146)

References (40)
  • 1
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile x
    • Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001;57:127-130.
    • (2001) Neurology , vol.57 , pp. 127-130
    • Hagerman, R.J.1    Leehey, M.2    Heinrichs, W.3
  • 2
    • 0037384643 scopus 로고    scopus 로고
    • Fragile x premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
    • Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003;72:869-878.
    • (2003) Am J Hum Genet , vol.72 , pp. 869-878
    • Jacquemont, S.1    Hagerman, R.J.2    Leehey, M.3
  • 3
    • 36749009300 scopus 로고    scopus 로고
    • Fragile x-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines
    • quiz 2140
    • Berry-Kravis E, Abrams L, Coffey SM, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord 2007;22:2018-2030, quiz 2140.
    • (2007) Mov Disord , vol.22 , pp. 2018-2030
    • Berry-Kravis, E.1    Abrams, L.2    Coffey, S.M.3
  • 4
    • 23344450122 scopus 로고    scopus 로고
    • Fragile x-associated tremor/ataxia syndrome and movements disorders
    • Baba Y, Uitti RJ. Fragile X-associated tremor/ataxia syndrome and movements disorders. Curr Opin Neurol 2005; 18:393-398.
    • (2005) Curr Opin Neurol , vol.18 , pp. 393-398
    • Baba, Y.1    Uitti, R.J.2
  • 5
    • 2342453253 scopus 로고    scopus 로고
    • Fragile-xassociated tremor/ataxia syndrome (fxtas) in females with the fmr1 premutation
    • Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile-Xassociated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004;74:1051-1056.
    • (2004) Am J Hum Genet , vol.74 , pp. 1051-1056
    • Hagerman, R.J.1    Leavitt, B.R.2    Farzin, F.3
  • 6
    • 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.4
  • 7
    • 9144252520 scopus 로고    scopus 로고
    • Penetrance of the fragile x-associated tremor/ataxia syndrome in a premutation carrier population
    • Jacquemont S, Hagerman RJ, Leehey MA, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004;291:460-469.
    • (2004) JAMA , vol.291 , pp. 460-469
    • Jacquemont, S.1    Hagerman, R.J.2    Leehey, M.A.3
  • 8
    • 42249108884 scopus 로고    scopus 로고
    • Abnormal nerve conduction features in fragile x premutation carriers
    • Soontarapornchai K, Maselli R, Fenton-Farrell G, et al. Abnormal nerve conduction features in fragile X premutation carriers. Arch Neurol 2008;65:495-498.
    • (2008) Arch Neurol , vol.65 , pp. 495-498
    • Soontarapornchai, K.1    Maselli, R.2    Fenton-Farrell, G.3
  • 9
    • 84857132924 scopus 로고    scopus 로고
    • The autosomal recessive cerebellar ataxias
    • Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med 2012;366:636-646.
    • (2012) N Engl J Med , vol.366 , pp. 636-646
    • Anheim, M.1    Tranchant, C.2    Koenig, M.3
  • 10
    • 0036846189 scopus 로고    scopus 로고
    • Fragile x premutation carriers: Characteristic mr imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
    • Brunberg JA, Jacquemont S, Hagerman RJ, et al. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol 2002;23: 1757-1766.
    • (2002) AJNR Am J Neuroradiol , vol.23 , pp. 1757-1766
    • Brunberg, J.A.1    Jacquemont, S.2    Hagerman, R.J.3
  • 11
    • 58349111158 scopus 로고    scopus 로고
    • Parkinsonism in fmr1 premutation carriers may be indistinguishable from parkinson disease
    • Hall DA, Howard K, Hagerman R, Leehey MA. Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease. Parkinsonism Relat Disord 2009;15:156-159.
    • (2009) Parkinsonism Relat Disord , vol.15 , pp. 156-159
    • Hall, D.A.1    Howard, K.2    Hagerman, R.3    Leehey, M.4
  • 12
    • 2342635196 scopus 로고    scopus 로고
    • The fragile-x premutation: A maturing perspective
    • Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004;74:805-816.
    • (2004) Am J Hum Genet , vol.74 , pp. 805-816
    • Hagerman, P.J.1    Hagerman, R.J.2
  • 13
    • 65649138779 scopus 로고    scopus 로고
    • Peripheral nervous system pathology in fragile x tremor/ataxia syndrome (fxtas)
    • Gokden M, Al-Hinti JT, Harik SI. Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS). Neuropathology 2009;29:280-284.
    • (2009) Neuropathology , vol.29 , pp. 280-284
    • Gokden, M.1    Al-Hinti, J.T.2    Harik, S.I.3
  • 14
    • 34848862790 scopus 로고    scopus 로고
    • Neuropathy as a presenting feature in fragile x-associated tremor/ataxia syndrome
    • Hagerman RJ, Coffey SM, Maselli R, et al. Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. Am J Med Genet A 2007;143A:2256-2260.
    • (2007) Am J Med Genet A , vol.143 , pp. 2256-2260
    • Hagerman, R.J.1    Coffey, S.M.2    Maselli, R.3
  • 15
    • 33745677486 scopus 로고    scopus 로고
    • Scale for the assessment and rating of ataxia: Development of a new clinical scale
    • Schmitz-Hubsch T, du Montcel ST, Baliko L, 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-Hubsch, T.1    Du Montcel, S.T.2    Baliko, L.3
  • 16
    • 0034642168 scopus 로고    scopus 로고
    • The fab: A frontal assessment battery at bedside
    • Dubois B, Slachevsky A, Litvan I, Pillon B. The FAB: a Frontal Assessment Battery at bedside. Neurology 2000; 55:1621-1626.
    • (2000) Neurology , vol.55 , pp. 1621-1626
    • Dubois, B.1    Slachevsky, A.2    Litvan, I.3    Pillon, B.4
  • 17
    • 0016823810 scopus 로고
    • Mini-mental state": A practical method for grading the cognitive state of patients for the clinician
    • Folstein MF, Folstein SE, McHugh PR. "Mini-mental state": a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-198.
    • (1975) J Psychiatr Res , vol.12 , pp. 189-198
    • Folstein, M.F.1    Folstein, S.E.2    McHugh, P.R.3
  • 18
    • 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
  • 19
    • 0031740582 scopus 로고    scopus 로고
    • Consensus statement of the movement disorder society on tremor: Ad hoc scientific committee
    • Deuschl G, Bain P, Brin M. Consensus statement of the Movement Disorder Society on Tremor: Ad Hoc Scientific Committee. Mov Disord 1998;13(suppl 3):2-23.
    • (1998) Mov Disord , vol.13 , Issue.SUPPL. 3 , pp. 2-23
    • Deuschl, G.1    Bain, P.2    Brin, M.3
  • 20
    • 0029421567 scopus 로고
    • A framework for the analysis of mixed time series/point process data: Theory and application to the study of physiological tremor, single motor unit discharges and electromyograms
    • Halliday DM, Rosenberg JR, Amjad AM, Breeze P, Conway BA, Farmer SF. A framework for the analysis of mixed time series/point process data: theory and application to the study of physiological tremor, single motor unit discharges and electromyograms. Prog Biophys Mol Biol 1995;64:237-278.
    • (1995) Prog Biophys Mol Biol , vol.64 , pp. 237-278
    • Halliday, D.M.1    Rosenberg, J.R.2    Amjad, A.M.3    Breeze, P.4    Conway, B.A.5    Farmer, S.F.6
  • 21
    • 0034029152 scopus 로고    scopus 로고
    • Accurate differentiation of parkinsonism and essential tremor using visual assessment of [123i]-fp-cit spect imaging: The [123i]-fpcit study group
    • Benamer TS, Patterson J, Grosset DG, et al. Accurate differentiation of parkinsonism and essential tremor using visual assessment of [123I]-FP-CIT SPECT imaging: the [123I]-FPCIT study group. Mov Disord 2000;15:503-510.
    • (2000) Mov Disord , vol.15 , pp. 503-510
    • Benamer, T.S.1    Patterson, J.2    Grosset, D.G.3
  • 22
    • 0026345716 scopus 로고
    • Variation of the cgg repeat at the fragile x site results in genetic instability: Resolution of the sherman paradox
    • Fu YH, Kuhl DP, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-1058.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.2    Pizzuti, A.3
  • 23
    • 78650840538 scopus 로고    scopus 로고
    • Report of a joint task force of the european federation of neurological societies and the peripheral nerve society: First revision
    • European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of multifocal motor neuropathy
    • European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of multifocal motor neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society: first revision. J Peripher Nerv Syst 2010;15:295-301.
    • (2010) J Peripher Nerv Syst , vol.15 , pp. 295-301
  • 24
    • 33750335320 scopus 로고    scopus 로고
    • Molecular and imaging correlates of the fragile x-associated tremor/ataxia syndrome
    • Cohen S, Masyn K, Adams J, et al. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology 2006;67:1426-1431.
    • (2006) Neurology , vol.67 , pp. 1426-1431
    • Cohen, S.1    Masyn, K.2    Adams, J.3
  • 25
    • 42049113610 scopus 로고    scopus 로고
    • Fmr1 cgg repeat length predicts motor dysfunction in premutation carriers
    • Leehey MA, Berry-Kravis E, Goetz CG, et al. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology 2008;70:1397-1402.
    • (2008) Neurology , vol.70 , pp. 1397-1402
    • Leehey, M.A.1    Berry-Kravis, E.2    Goetz, C.G.3
  • 26
    • 77958587279 scopus 로고    scopus 로고
    • Motor and mental dysfunction in mother-daughter transmitted fxtas
    • Rodriguez-Revenga L, Pagonabarraga J, Gomez-Anson B, et al. Motor and mental dysfunction in mother-daughter transmitted FXTAS. Neurology 2010;75:1370-1376.
    • (2010) Neurology , vol.75 , pp. 1370-1376
    • Rodriguez-Revenga, L.1    Pagonabarraga, J.2    Gomez-Anson, B.3
  • 27
    • 34548209247 scopus 로고    scopus 로고
    • Volumetric brain changes in females with fragile x-associated tremor/ataxia syndrome (fxtas)
    • Adams JS, Adams PE, Nguyen D, et al. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology 2007;69:851-859.
    • (2007) Neurology , vol.69 , pp. 851-859
    • Adams, J.S.1    Adams, P.E.2    Nguyen, D.3
  • 28
    • 4444249398 scopus 로고    scopus 로고
    • Screen for expanded fmr1 alleles in patients with essential tremor
    • Garcia Arocena D, Louis ED, Tassone F, et al. Screen for expanded FMR1 alleles in patients with essential tremor. Mov Disord 2004;19:930-933.
    • (2004) Mov Disord , vol.19 , pp. 930-933
    • Garcia Arocena, D.1    Louis, E.D.2    Tassone, F.3
  • 32
    • 0036345801 scopus 로고    scopus 로고
    • Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile x carriers
    • Greco CM, Hagerman RJ, Tassone F, et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002;125:1760-1771.
    • (2002) Brain , vol.125 , pp. 1760-1771
    • Greco, C.M.1    Hagerman, R.J.2    Tassone, F.3
  • 33
    • 69949179971 scopus 로고    scopus 로고
    • Torpedoes in parkinson's disease, alzheimer's disease, essential tremor, and control brains
    • Louis ED, Faust PL, Vonsattel JP, et al. Torpedoes in Parkinson's disease, Alzheimer's disease, essential tremor, and control brains. Mov Disord 2009;24:1600-1605.
    • (2009) Mov Disord , vol.24 , pp. 1600-1605
    • Louis, E.D.1    Faust, P.L.2    Vonsattel, J.P.3
  • 34
    • 77954987272 scopus 로고    scopus 로고
    • Gabaergic dysfunction in essential tremor: An 11c-flumazenil pet study
    • Boecker H, Weindl A, Brooks DJ, et al. GABAergic dysfunction in essential tremor: an 11C-flumazenil PET study. J Nucl Med 2010;51:1030-1035.
    • (2010) J Nucl Med , vol.51 , pp. 1030-1035
    • Boecker, H.1    Weindl, A.2    Brooks, D.J.3
  • 36
    • 30344473617 scopus 로고    scopus 로고
    • Neuropathology of fragile x-associated tremor/ataxia syndrome (fxtas)
    • Greco CM, Berman RF, Martin RM, et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 2006;129:243-255.
    • (2006) Brain , vol.129 , pp. 243-255
    • Greco, C.M.1    Berman, R.F.2    Martin, R.M.3
  • 37
    • 77953735388 scopus 로고    scopus 로고
    • Ca(v)3.1 is a tremor rhythm pacemaker in the inferior olive
    • Park YG, Park HY, Lee CJ, et al. Ca(V)3.1 is a tremor rhythm pacemaker in the inferior olive. Proc Natl Acad Sci USA 2010;107:10731-10736.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 10731-10736
    • Park, Y.G.1    Park, H.Y.2    Lee, C.J.3
  • 38
    • 79952500499 scopus 로고    scopus 로고
    • Pallidal dysfunction drives a cerebellothalamic circuit into parkinson tremor
    • Helmich RC, Janssen MJ, Oyen WJ, Bloem BR, Toni I. Pallidal dysfunction drives a cerebellothalamic circuit into Parkinson tremor. Ann Neurol 2011;69:269-281.
    • (2011) Ann Neurol , vol.69 , pp. 269-281
    • Helmich, R.C.1    Janssen, M.J.2    Oyen, W.J.3    Bloem, B.R.4    Toni, I.5
  • 39
    • 12744259994 scopus 로고    scopus 로고
    • Fmr1 premutation as a rare cause of late onset ataxia-evidence for fxtas in female carriers
    • Zuhlke C, Budnik A, Gehlken U, et al. FMR1 premutation as a rare cause of late onset ataxia-evidence for FXTAS in female carriers. J Neurol 2004;251:1418-1419.
    • (2004) J Neurol , vol.251 , pp. 1418-1419
    • Zuhlke, C.1    Budnik, A.2    Gehlken, U.3
  • 40
    • 77958153723 scopus 로고    scopus 로고
    • Fmr1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients
    • Hall DA, Jennings D, Seibyl J, Tassone F, Marek K. FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients. Parkinsonism Relat Disord 2010;16:608-611.
    • (2010) Parkinsonism Relat Disord , vol.16 , pp. 608-611
    • Hall, D.A.1    Jennings, D.2    Seibyl, J.3    Tassone, F.4    Marek, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.