메뉴 건너뛰기




Volumn 5, Issue 4, 2009, Pages 222-234

Diagnosis and treatment of Friedreich ataxia: A European perspective

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCARNITINE; ALPHA TOCOPHEROL; CARNITINE; GENE PRODUCT; IDEBENONE; PLACEBO; PROPOFOL; PROTEIN FXN; SEROTONIN UPTAKE INHIBITOR; TRICYCLIC ANTIDEPRESSANT AGENT; UBIDECARENONE; UNCLASSIFIED DRUG; ANTIOXIDANT;

EID: 67649213875     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2009.26     Document Type: Review
Times cited : (201)

References (99)
  • 1
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano, V. et al. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423z1427 (1996).
    • (1996) Science , vol.271 , Issue.Z1427 , pp. 1423
    • Campuzano, V.1
  • 2
    • 0034720861 scopus 로고    scopus 로고
    • Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion
    • Labuda, M. et al. Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology 54, 2322-2324 (2000).
    • (2000) Neurology , vol.54 , pp. 2322-2324
    • Labuda, M.1
  • 3
    • 0030739437 scopus 로고    scopus 로고
    • Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations
    • Cossee, M. et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations. Proc. Natl Acad. Sci. USA 94, 7452-7457 (1997).
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 7452-7457
    • Cossee, M.1
  • 4
    • 0031009267 scopus 로고    scopus 로고
    • Differential stability of the (GAA) tract in the Friedreich ataxia (STM7) gene
    • Epplen, C. et al. Differential stability of the (GAA) tract in the Friedreich ataxia (STM7) gene. Hum. Genet. 99, 834-836 (1997).
    • (1997) Hum. Genet , vol.99 , pp. 834-836
    • Epplen, C.1
  • 5
    • 0036461155 scopus 로고    scopus 로고
    • Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland
    • Juvonen, V. et al. Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland. Hum. Genet. 110 36-40 (2002).
    • (2002) Hum. Genet , vol.110 , pp. 36-40
    • Juvonen, V.1
  • 6
    • 0025876335 scopus 로고
    • Hereditary ataxias and paraplegias in Cantabria, spain. An epidemiological and clinical study
    • Polo, J. M. et al. Hereditary ataxias and paraplegias in Cantabria, spain. An epidemiological and clinical study. Brain 114, 855-866 (1991).
    • (1991) Brain , vol.114 , pp. 855-866
    • Polo, J.M.1
  • 7
    • 0034647948 scopus 로고    scopus 로고
    • Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients
    • Wintermeyer, P. et al. Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients. NeuroReport 11, 2079-2082 (2000).
    • (2000) NeuroReport , vol.11 , pp. 2079-2082
    • Wintermeyer, P.1
  • 8
    • 0025613666 scopus 로고
    • Hereditary ataxias: Epidemiological aspects
    • Werdelin, L. & Keiding, N. Hereditary ataxias: Epidemiological aspects. Neuroepidemiology 9, 321-331 (1990).
    • (1990) Neuroepidemiology , vol.9 , pp. 321-331
    • Werdelin, L.1    Keiding, N.2
  • 9
    • 0016734732 scopus 로고
    • Friedreich's ataxia in western Norway
    • Skre, H. Friedreich's ataxia in western Norway. Clin. Genet. 7 287-298 (1975).
    • (1975) Clin. Genet , vol.7 , pp. 287-298
    • Skre, H.1
  • 10
    • 17744397508 scopus 로고    scopus 로고
    • evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia
    • Jonasson, J. et al. evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. Eur. J. Hum. Genet. 8, 918-922 (2000).
    • (2000) Eur. J. Hum. Genet , vol.8 , pp. 918-922
    • Jonasson, J.1
  • 11
    • 0034017049 scopus 로고    scopus 로고
    • Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia
    • Colombo, R. & Carobene, A. Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia. Hum. Genet. 106, 455-458 (2000).
    • (2000) Hum. Genet , vol.106 , pp. 455-458
    • Colombo, R.1    Carobene, A.2
  • 12
    • 0033764821 scopus 로고    scopus 로고
    • Tracing european founder lineages in the near Eastern mtDNA pool
    • Richards, M. et al. Tracing european founder lineages in the near Eastern mtDNA pool. Am. J. Hum. Genet. 67, 1251-1276 (2000).
    • (2000) Am. J. Hum. Genet , vol.67 , pp. 1251-1276
    • Richards, M.1
  • 13
    • 0034634349 scopus 로고    scopus 로고
    • The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: A Y chromosome perspective
    • Semino, O. et al. The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: A Y chromosome perspective. Science 290, 1155-1159 (2000).
    • (2000) Science , vol.290 , pp. 1155-1159
    • Semino, O.1
  • 14
    • 12144289934 scopus 로고    scopus 로고
    • The western and eastern roots of the saami - the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes
    • Tambets, K. et al. The western and eastern roots of the saami - the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes. Am. J. Hum. Genet. 74, 661-682 (2004).
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 661-682
    • Tambets, K.1
  • 15
    • 8544240144 scopus 로고    scopus 로고
    • The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles
    • Montermini, L. et al. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum. Mol. Genet. 6, 1261-1266 (1997).
    • (1997) Hum. Mol. Genet , vol.6 , pp. 1261-1266
    • Montermini, L.1
  • 16
    • 0019782799 scopus 로고
    • Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
    • Harding, A. E. Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104, 589-620 (1981).
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 17
    • 41849138247 scopus 로고    scopus 로고
    • Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia
    • Fahey, M. C. et al. Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia. Brain 131, 1035-1045 (2008).
    • (2008) Brain , vol.131 , pp. 1035-1045
    • Fahey, M.C.1
  • 18
    • 84975519745 scopus 로고    scopus 로고
    • Visual loss and recovery in a patient with Friedreich ataxia
    • Givre, S. J. et al. Visual loss and recovery in a patient with Friedreich ataxia. J. Neuroophthalmol. 20, 229-233 (2000).
    • (2000) J. Neuroophthalmol , vol.20 , pp. 229-233
    • Givre, S.J.1
  • 19
    • 0021346679 scopus 로고
    • Neuro-otological abnormalities in Friedreich's ataxia
    • Ell, J. et al. Neuro-otological abnormalities in Friedreich's ataxia. J. Neurol. Neurosurg. Psychiatry 47, 26-32 (1984).
    • (1984) J. Neurol. Neurosurg. Psychiatry , vol.47 , pp. 26-32
    • Ell, J.1
  • 20
    • 49449099721 scopus 로고    scopus 로고
    • Speech perception ability in individuals with Friedreich ataxia
    • Rance, G. et al. Speech perception ability in individuals with Friedreich ataxia. Brain 131, 2002-2012 (2008).
    • (2008) Brain , vol.131 , pp. 2002-2012
    • Rance, G.1
  • 21
    • 0030939011 scopus 로고    scopus 로고
    • International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology
    • Trouillas, P. et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J. Neurol. Sci. 145, 205-211 (1997).
    • (1997) J. Neurol. Sci , vol.145 , pp. 205-211
    • Trouillas, P.1
  • 22
    • 16844371342 scopus 로고    scopus 로고
    • Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
    • Subramony, S. H. et al. Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale. Neurology 64, 1261-1262 (2005).
    • (2005) Neurology , vol.64 , pp. 1261-1262
    • Subramony, S.H.1
  • 23
    • 33947729814 scopus 로고    scopus 로고
    • How is disease progress in Friedreich's ataxia best measured? A study of four rating scales
    • Fahey, M. C. et al. How is disease progress in Friedreich's ataxia best measured? A study of four rating scales. J. Neurol. Neurosurg. Psychiatry 78, 411-413 (2007).
    • (2007) J. Neurol. Neurosurg. Psychiatry , vol.78 , pp. 411-413
    • Fahey, M.C.1
  • 24
    • 33745677486 scopus 로고    scopus 로고
    • Scale for the assessment and rating of ataxia: Development of a new clinical scale
    • Schmitz-Hübsch, T. et al. Scale for the assessment and rating of ataxia: Development of a new clinical scale. Neurology 66 1717-1720 (2006).
    • (2006) Neurology , vol.66 , pp. 1717-1720
    • Schmitz-Hübsch, T.1
  • 25
    • 33745659239 scopus 로고    scopus 로고
    • Measuring Friedreich ataxia: Complementary features of examination and performance measures
    • Lynch, D. R. et al. Measuring Friedreich ataxia: Complementary features of examination and performance measures. Neurology 66 1711-1716 (2006).
    • (2006) Neurology , vol.66 , pp. 1711-1716
    • Lynch, D.R.1
  • 26
    • 0029821176 scopus 로고    scopus 로고
    • Clinical and genetic abnormalities in patients with Friedreich's ataxia
    • Dürr, A. et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N. Engl. J. Med. 335, 1169-1175 (1996).
    • (1996) N. Engl. J. Med , vol.335 , pp. 1169-1175
    • Dürr, A.1
  • 27
    • 17144467700 scopus 로고    scopus 로고
    • Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
    • Montermini, L. et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann. Neurol. 41, 675-682 (1997).
    • (1997) Ann. Neurol , vol.41 , pp. 675-682
    • Montermini, L.1
  • 28
    • 0023877052 scopus 로고
    • Friedreich's ataxia: A clinical review of 20 childhood cases
    • Ulku, A. et al. Friedreich's ataxia: A clinical review of 20 childhood cases. Acta Neurol. Scand. 77, 493-497 (1988).
    • (1988) Acta Neurol. Scand , vol.77 , pp. 493-497
    • Ulku, A.1
  • 29
    • 0345621620 scopus 로고    scopus 로고
    • Clinical and genetic correlate in childhood onset Friedreich ataxia
    • Alikasifoglu, M. et al. Clinical and genetic correlate in childhood onset Friedreich ataxia. Neuropediatrics 30, 72-76 (1999).
    • (1999) Neuropediatrics , vol.30 , pp. 72-76
    • Alikasifoglu, M.1
  • 30
    • 0032977978 scopus 로고    scopus 로고
    • Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study
    • Coppola, G. et al. Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study. J. Neurol. 246, 353-357 (1999).
    • (1999) J. Neurol , vol.246 , pp. 353-357
    • Coppola, G.1
  • 31
    • 33750328984 scopus 로고    scopus 로고
    • Neurological findings, neurophysiological examinations, and sural nerve biopsy in a case of Friedreich ataxia [Japanese]
    • Hirai, T. et al. Neurological findings, neurophysiological examinations, and sural nerve biopsy in a case of Friedreich ataxia [Japanese]. Rinsho Shinkeigaku 46, 485-490 (2006).
    • (2006) Rinsho Shinkeigaku , vol.46 , pp. 485-490
    • Hirai, T.1
  • 32
    • 0033064265 scopus 로고    scopus 로고
    • Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia
    • Santoro, L. et al. Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia. J. Neurol. Neurosurg. Psychiatry 66, 93-96 (1999).
    • (1999) J. Neurol. Neurosurg. Psychiatry , vol.66 , pp. 93-96
    • Santoro, L.1
  • 33
    • 0027520758 scopus 로고
    • The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9
    • Muller-Felber, W. et al. The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9. Clin. Invest. 71, 109-114 (1993).
    • (1993) Clin. Invest , vol.71 , pp. 109-114
    • Muller-Felber, W.1
  • 34
    • 34250307262 scopus 로고    scopus 로고
    • A neurophysiological study of the alterations to the central and peripheral nervous systems in Friedreich's ataxia [spanish]
    • Santiago-Perez, S. et al. A neurophysiological study of the alterations to the central and peripheral nervous systems in Friedreich's ataxia [spanish]. Rev. Neurol. 44, 193-197 (2007).
    • (2007) Rev. Neurol , vol.44 , pp. 193-197
    • Santiago-Perez, S.1
  • 35
    • 0034213821 scopus 로고    scopus 로고
    • Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: Contribution to the understanding of the pathophysiology of the disease
    • Santoro, L. et al. Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease. Clin. Neurophysiol. 111, 1023-1030 (2000).
    • (2000) Clin. Neurophysiol , vol.111 , pp. 1023-1030
    • Santoro, L.1
  • 36
    • 0023915446 scopus 로고
    • Central motor conduction in degenerative ataxic disorders: A magnetic stimulation study
    • Claus, D. et al. Central motor conduction in degenerative ataxic disorders: A magnetic stimulation study. J. Neurol. Neurosurg. Psychiatry 51, 790-795 (1988).
    • (1988) J. Neurol. Neurosurg. Psychiatry , vol.51 , pp. 790-795
    • Claus, D.1
  • 37
    • 0028802262 scopus 로고
    • Motor evoked potentials by magnetic stimulation in hereditary and sporadic ataxia
    • Mondelli, M. et al. Motor evoked potentials by magnetic stimulation in hereditary and sporadic ataxia. Electromyogr. Clin. Neurophysiol. 35, 415-424 (1995).
    • (1995) Electromyogr. Clin. Neurophysiol , vol.35 , pp. 415-424
    • Mondelli, M.1
  • 38
    • 0038329099 scopus 로고    scopus 로고
    • Auditory neuropathy in Friedreich ataxia. A report of two cases
    • Lopez-Diaz-de-Leon, E. et al. Auditory neuropathy in Friedreich ataxia. A report of two cases. Int. J. Pediatr. Otorhinolaryngol. 67, 641-648 (2003).
    • (2003) Int. J. Pediatr. Otorhinolaryngol , vol.67 , pp. 641-648
    • Lopez-Diaz-de-Leon, E.1
  • 39
    • 0028238767 scopus 로고
    • Friedreich's ataxia: MR findings involving the cervical portion of the spinal cord
    • Mascalchi, M. et al. Friedreich's ataxia: MR findings involving the cervical portion of the spinal cord. AJR Am. J. Roentgenol. 163, 187-191 (1994).
    • (1994) AJR Am. J. Roentgenol , vol.163 , pp. 187-191
    • Mascalchi, M.1
  • 40
    • 37749053225 scopus 로고    scopus 로고
    • Brain structural damage in Friedreich's ataxia
    • Della Nave, R. et al. Brain structural damage in Friedreich's ataxia. J. Neurol. Neurosurg. Psychiatry 79, 82-85 (2008).
    • (2008) J. Neurol. Neurosurg. Psychiatry , vol.79 , pp. 82-85
    • Della Nave, R.1
  • 41
    • 0029883220 scopus 로고    scopus 로고
    • The varying evolution of Friedreich's ataxia cardiomyopathy
    • Casazza, F. & Morpurgo, M. The varying evolution of Friedreich's ataxia cardiomyopathy. Am. J. Cardiol. 77, 895-898 (1996).
    • (1996) Am. J. Cardiol , vol.77 , pp. 895-898
    • Casazza, F.1    Morpurgo, M.2
  • 42
    • 34748830533 scopus 로고    scopus 로고
    • Cardiomyopathy in Friedreich's ataxia - assessment by cardiac MRI
    • Meyer, C. et al. Cardiomyopathy in Friedreich's ataxia - assessment by cardiac MRI. Mov. Disord. 22, 1615-1622 (2007).
    • (2007) Mov. Disord , vol.22 , pp. 1615-1622
    • Meyer, C.1
  • 43
    • 0034053932 scopus 로고    scopus 로고
    • Heart disease in Friedreich's ataxia: Observation of a case for half a century
    • Kawai, C. et al. Heart disease in Friedreich's ataxia: Observation of a case for half a century. Jpn. Circ. J. 64, 229-236 (2000).
    • (2000) Jpn. Circ. J , vol.64 , pp. 229-236
    • Kawai, C.1
  • 44
    • 0019176594 scopus 로고
    • Pathomechanics and management of scoliosis in Friedreich ataxia patients: Preliminary report
    • Allard, P. et al. Pathomechanics and management of scoliosis in Friedreich ataxia patients: Preliminary report. Can. J. Neurol. Sci. 7, 383-388 (1980).
    • (1980) Can. J. Neurol. Sci , vol.7 , pp. 383-388
    • Allard, P.1
  • 45
    • 0021710195 scopus 로고
    • Incidence, natural history, and treatment of scoliosis in Friedreich's ataxia
    • Cady, R. B. & Bobechko, W. P. Incidence, natural history, and treatment of scoliosis in Friedreich's ataxia. J. Pediatr. Orthop. 4, 673-676 (1984).
    • (1984) J. Pediatr. Orthop , vol.4 , pp. 673-676
    • Cady, R.B.1    Bobechko, W.P.2
  • 46
    • 0022473788 scopus 로고
    • Natural history of scoliosis in Friedreich's ataxia
    • Labelle, H. et al. Natural history of scoliosis in Friedreich's ataxia. J. Bone Joint Surg. Am. 68, 564-572 (1986).
    • (1986) J. Bone Joint Surg. Am , vol.68 , pp. 564-572
    • Labelle, H.1
  • 47
    • 41849143012 scopus 로고    scopus 로고
    • Friedreich's ataxia and scoliosis: The experience at two institutions
    • Milbrandt, T. A. et al. Friedreich's ataxia and scoliosis: The experience at two institutions. J. Pediatr. Orthop. 28, 234-238 (2008).
    • (2008) J. Pediatr. Orthop , vol.28 , pp. 234-238
    • Milbrandt, T.A.1
  • 48
    • 0028878372 scopus 로고
    • Natural history of muscle weakness in Friedreich's ataxia and its relation to loss of ambulation
    • Beauchamp, M. et al. Natural history of muscle weakness in Friedreich's ataxia and its relation to loss of ambulation. Clin. Orthop. Relat. Res. 311, 270-275 (1995).
    • (1995) Clin. Orthop. Relat. Res , vol.311 , pp. 270-275
    • Beauchamp, M.1
  • 49
    • 0031647246 scopus 로고    scopus 로고
    • Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families
    • Moseley, M. L. et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 51, 1666-1671 (1998).
    • (1998) Neurology , vol.51 , pp. 1666-1671
    • Moseley, M.L.1
  • 50
    • 0036603021 scopus 로고    scopus 로고
    • Friedreich ataxia: A paradigm for mitochondrial diseases
    • Puccio, H. & Koenig, M. Friedreich ataxia: A paradigm for mitochondrial diseases. Curr. Opin. Genet. Dev. 12, 272-277 (2002).
    • (2002) Curr. Opin. Genet. Dev , vol.12 , pp. 272-277
    • Puccio, H.1    Koenig, M.2
  • 51
    • 0035020940 scopus 로고    scopus 로고
    • Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia
    • Lodi, R. et al. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia. Ann. Neurol. 49, 590-596 (2001).
    • (2001) Ann. Neurol , vol.49 , pp. 590-596
    • Lodi, R.1
  • 52
    • 20144389286 scopus 로고    scopus 로고
    • Antioxidant treatment of patients with Friedreich ataxia: Four-year follow-up
    • Hart, P. E. et al. Antioxidant treatment of patients with Friedreich ataxia: Four-year follow-up. Arch. Neurol. 62, 621-626 (2005).
    • (2005) Arch. Neurol , vol.62 , pp. 621-626
    • Hart, P.E.1
  • 53
    • 0033533071 scopus 로고    scopus 로고
    • Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study
    • Rustin, P. et al. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study. Lancet 354, 477-479 (1999).
    • (1999) Lancet , vol.354 , pp. 477-479
    • Rustin, P.1
  • 54
    • 0036221156 scopus 로고    scopus 로고
    • Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia
    • Hausse, A. O. et al. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart 87, 346-349 (2002).
    • (2002) Heart , vol.87 , pp. 346-349
    • Hausse, A.O.1
  • 55
    • 0038187688 scopus 로고    scopus 로고
    • Idebenone treatment in Friedreich's ataxia: Neurological, cardiac, and biochemical monitoring
    • Buyse, G. et al. Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology 60 1679-1681 (2003).
    • (2003) Neurology , vol.60 , pp. 1679-1681
    • Buyse, G.1
  • 56
    • 0037849955 scopus 로고    scopus 로고
    • Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial
    • Mariotti, C. et al. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 60 1676-1679 (2003).
    • (2003) Neurology , vol.60 , pp. 1676-1679
    • Mariotti, C.1
  • 57
    • 34247159966 scopus 로고    scopus 로고
    • Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up
    • Ribai, P. et al. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch. Neurol. 64, 558-564 (2007).
    • (2007) Arch. Neurol , vol.64 , pp. 558-564
    • Ribai, P.1
  • 58
    • 52249089314 scopus 로고    scopus 로고
    • Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up
    • Pineda, M. et al. Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up. Eur. J. Paediatr. Neurol. 12, 470-475 (2008).
    • (2008) Eur. J. Paediatr. Neurol , vol.12 , pp. 470-475
    • Pineda, M.1
  • 59
    • 0035968097 scopus 로고    scopus 로고
    • Idebenone in patients with Friedreich ataxia
    • Schöls, L. et al. Idebenone in patients with Friedreich ataxia. Neurosci. Lett. 306, 169-172 (2001).
    • (2001) Neurosci. Lett , vol.306 , pp. 169-172
    • Schöls, L.1
  • 60
    • 33744980943 scopus 로고    scopus 로고
    • Expanding view of phenotype and oxidative stress in Friedreich's ataxia patients with and without idebenone
    • Arnold, P. et al. Expanding view of phenotype and oxidative stress in Friedreich's ataxia patients with and without idebenone. Schweiz. Arch. Neurol. Psychiatr. 157, 169-175 (2006).
    • (2006) Schweiz. Arch. Neurol. Psychiatr , vol.157 , pp. 169-175
    • Arnold, P.1
  • 61
    • 0036694802 scopus 로고    scopus 로고
    • Friedreich's ataxia: Idebenone treatment in early stage patients
    • Artuch, R. et al. Friedreich's ataxia: Idebenone treatment in early stage patients. Neuropediatrics 33, 190-193 (2002).
    • (2002) Neuropediatrics , vol.33 , pp. 190-193
    • Artuch, R.1
  • 62
    • 0036554660 scopus 로고    scopus 로고
    • Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia
    • Rustin, P. et al. Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia. Free Radic. Res. 36, 467-469 (2002).
    • (2002) Free Radic. Res , vol.36 , pp. 467-469
    • Rustin, P.1
  • 63
    • 34250338864 scopus 로고    scopus 로고
    • Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia
    • Di Prospero, N. A. et al. Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. Arch. Neurol. 64, 803-808 (2007).
    • (2007) Arch. Neurol , vol.64 , pp. 803-808
    • Di Prospero, N.A.1
  • 64
    • 34548606803 scopus 로고    scopus 로고
    • Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: A randomised, placebo-controlled trial
    • Di Prospero, N. A. et al. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: A randomised, placebo-controlled trial. Lancet Neurol. 6, 878-886 (2007).
    • (2007) Lancet Neurol , vol.6 , pp. 878-886
    • Di Prospero, N.A.1
  • 65
    • 20844443983 scopus 로고    scopus 로고
    • L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial
    • Schols, L. et al. L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial. J. Neural Transm. 112, 789-796 (2005).
    • (2005) J. Neural Transm , vol.112 , pp. 789-796
    • Schols, L.1
  • 66
    • 0034004462 scopus 로고    scopus 로고
    • Double-blind, crossover, placebo-controlled clinical trial with L-acetylcarnitine in patients with degenerative cerebellar ataxia
    • Sorbi, S. et al. Double-blind, crossover, placebo-controlled clinical trial with L-acetylcarnitine in patients with degenerative cerebellar ataxia. Clin. Neuropharmacol. 23, 114-118 (2000).
    • (2000) Clin. Neuropharmacol , vol.23 , pp. 114-118
    • Sorbi, S.1
  • 67
    • 19944427642 scopus 로고    scopus 로고
    • Meta-analysis: High-dosage vitamin E supplementation may increase all-cause mortality
    • Miller, E. R. 3rd et al. Meta-analysis: High-dosage vitamin E supplementation may increase all-cause mortality. Ann. Intern. Med. 142, 37-46 (2005).
    • (2005) Ann. Intern. Med , vol.142 , pp. 37-46
    • Miller 3rd, E.R.1
  • 68
    • 47249127786 scopus 로고    scopus 로고
    • Iron-dependent regulation of frataxin expression: Implications for treatment of Friedreich ataxia
    • Li, K. et al. Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia. Hum. Mol. Genet. 17, 2265-2273 (2008).
    • (2008) Hum. Mol. Genet , vol.17 , pp. 2265-2273
    • Li, K.1
  • 69
    • 34347370842 scopus 로고    scopus 로고
    • selective iron chelation in Friedreich ataxia: Biologic and clinical implications
    • Boddaert, N. et al. selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood 110, 401-408 (2007).
    • (2007) Blood , vol.110 , pp. 401-408
    • Boddaert, N.1
  • 70
    • 38949197818 scopus 로고    scopus 로고
    • Redistribution of accumulated cell iron: A modality of chelation with therapeutic implications
    • Sohn, Y. S. et al. Redistribution of accumulated cell iron: A modality of chelation with therapeutic implications. Blood 111 1690-1699 (2008).
    • (2008) Blood , vol.111 , pp. 1690-1699
    • Sohn, Y.S.1
  • 71
    • 37349059308 scopus 로고    scopus 로고
    • Friedreich's ataxia: Clinical pilot trial with recombinant human erythropoietin
    • Boesch, S. et al. Friedreich's ataxia: Clinical pilot trial with recombinant human erythropoietin. Ann. Neurol. 62, 521-524 (2007).
    • (2007) Ann. Neurol , vol.62 , pp. 521-524
    • Boesch, S.1
  • 72
    • 33748778745 scopus 로고    scopus 로고
    • Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
    • Herman, D. et al. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat. Chem. Biol. 2, 551-558 (2006).
    • (2006) Nat. Chem. Biol , vol.2 , pp. 551-558
    • Herman, D.1
  • 73
    • 44349114629 scopus 로고    scopus 로고
    • HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model, e1958 2008
    • Rai, M. et al. HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS ONE 3, e1958 (2008).
    • PLoS ONE , vol.3
    • Rai, M.1
  • 74
    • 36849055254 scopus 로고    scopus 로고
    • Presentation and progression of Friedreich ataxia and implications for physical therapist examination
    • Maring, J. R. & Croarkin, E. Presentation and progression of Friedreich ataxia and implications for physical therapist examination. Phys. Ther. 87, 1687-1696 (2007).
    • (2007) Phys. Ther , vol.87 , pp. 1687-1696
    • Maring, J.R.1    Croarkin, E.2
  • 75
    • 0003499664 scopus 로고    scopus 로고
    • American Physical therapy Association, 2nd edn American Physical Therapy Association, Alexandria
    • American Physical therapy Association. Guide to Physical Therapist Practice, 2nd edn (American Physical Therapy Association, Alexandria, 2001).
    • (2001) Guide to Physical Therapist Practice
  • 76
    • 11844300290 scopus 로고    scopus 로고
    • Surgery for equinovarus deformity in Friedreich's ataxia improves mobility and independence
    • Delatycki, M. B. et al. Surgery for equinovarus deformity in Friedreich's ataxia improves mobility and independence. Clin. Orthop. Relat. Res. 430, 138-141 (2005).
    • (2005) Clin. Orthop. Relat. Res , vol.430 , pp. 138-141
    • Delatycki, M.B.1
  • 77
    • 3142772746 scopus 로고    scopus 로고
    • Rehabilitation management of Friedreich ataxia: Lower extremity force-control variability and gait performance
    • Harris-Love, M. O. et al. Rehabilitation management of Friedreich ataxia: Lower extremity force-control variability and gait performance. Neurorehabil. Neural Repair 18, 117-124 (2004).
    • (2004) Neurorehabil. Neural Repair , vol.18 , pp. 117-124
    • Harris-Love, M.O.1
  • 78
    • 44349142670 scopus 로고    scopus 로고
    • Orthopedic shoes improve gait in Friedreich's ataxia: A clinical and quantified case study
    • Goulipian, C. et al. Orthopedic shoes improve gait in Friedreich's ataxia: A clinical and quantified case study. Eur. J. Phys. Rehabil. Med. 44, 93-98 (2008).
    • (2008) Eur. J. Phys. Rehabil. Med , vol.44 , pp. 93-98
    • Goulipian, C.1
  • 79
    • 22944483783 scopus 로고    scopus 로고
    • Intrathecal baclofen in the treatment of painful, disabling spasms in Friedreich's ataxia
    • Ben Smail, D. et al. Intrathecal baclofen in the treatment of painful, disabling spasms in Friedreich's ataxia. Mov. Disord. 20, 758-759 (2005).
    • (2005) Mov. Disord , vol.20 , pp. 758-759
    • Ben Smail, D.1
  • 80
    • 31944441312 scopus 로고    scopus 로고
    • Botulinum toxin type A for the treatment of the spastic equinus foot in cerebral palsy
    • Cardoso, E. S. et al. Botulinum toxin type A for the treatment of the spastic equinus foot in cerebral palsy. Pediatr. Neurol. 34 106-109 (2006).
    • (2006) Pediatr. Neurol , vol.34 , pp. 106-109
    • Cardoso, E.S.1
  • 81
    • 2942597976 scopus 로고    scopus 로고
    • Can use of walkers or canes impede lateral compensatory stepping movements?
    • Bateni, H. et al. Can use of walkers or canes impede lateral compensatory stepping movements? Gait Posture 20, 74-83 (2004).
    • (2004) Gait Posture , vol.20 , pp. 74-83
    • Bateni, H.1
  • 82
    • 0024434761 scopus 로고
    • Endurance exercise training in Friedreich ataxia
    • Fillyaw, M. J. & Ades, P. A. Endurance exercise training in Friedreich ataxia. Arch. Phys. Med. Rehabil. 70, 786-788 (1989).
    • (1989) Arch. Phys. Med. Rehabil , vol.70 , pp. 786-788
    • Fillyaw, M.J.1    Ades, P.A.2
  • 83
    • 0024995015 scopus 로고
    • The effect of rate control on the intelligibility and naturalness of dysarthric speech
    • Yorkston, K. M. et al. The effect of rate control on the intelligibility and naturalness of dysarthric speech. J. Speech Hear. Disord. 55, 550-560 (1990).
    • (1990) J. Speech Hear. Disord , vol.55 , pp. 550-560
    • Yorkston, K.M.1
  • 84
    • 0141963013 scopus 로고    scopus 로고
    • Effects of intensive voice treatment (the Lee Silverman Voice Treatment [LSVT]) on ataxic dysarthria: A case study
    • Sapir, S. et al. Effects of intensive voice treatment (the Lee Silverman Voice Treatment [LSVT]) on ataxic dysarthria: A case study. Am. J. Speech Lang. Pathol. 12, 387-399 (2003).
    • (2003) Am. J. Speech Lang. Pathol , vol.12 , pp. 387-399
    • Sapir, S.1
  • 85
    • 0034807130 scopus 로고    scopus 로고
    • Intensive voice treatment (LSVT) for patients with Parkinson's disease: A 2 year follow up
    • Ramig, L. O. et al. Intensive voice treatment (LSVT) for patients with Parkinson's disease: A 2 year follow up. J. Neurol. Neurosurg. Psychiatry 71, 493-498 (2001).
    • (2001) J. Neurol. Neurosurg. Psychiatry , vol.71 , pp. 493-498
    • Ramig, L.O.1
  • 86
    • 0025362331 scopus 로고
    • Extended communication samples of augmented communicators. I: A comparison of individualized versus standard single-word vocabularies
    • Yorkston, K. M. et al. Extended communication samples of augmented communicators. I: A comparison of individualized versus standard single-word vocabularies. J. Speech Hear. Disord. 55, 217-224 (1990).
    • (1990) J. Speech Hear. Disord , vol.55 , pp. 217-224
    • Yorkston, K.M.1
  • 87
    • 33845755899 scopus 로고    scopus 로고
    • The science and practice of LSVT/LOUD: Neural plasticity-principled approach to treating individuals with Parkinson disease and other neurological disorders
    • Fox, C. M. et al. The science and practice of LSVT/LOUD: Neural plasticity-principled approach to treating individuals with Parkinson disease and other neurological disorders. Semin. Speech Lang. 27, 283-299 (2006).
    • (2006) Semin. Speech Lang , vol.27 , pp. 283-299
    • Fox, C.M.1
  • 88
    • 33745976522 scopus 로고    scopus 로고
    • Towards an understanding of cognitive function in Friedreich ataxia
    • Corben, L. A. et al. Towards an understanding of cognitive function in Friedreich ataxia. Brain Res. Bull. 70, 197-202 (2006).
    • (2006) Brain Res. Bull , vol.70 , pp. 197-202
    • Corben, L.A.1
  • 89
    • 0033802296 scopus 로고    scopus 로고
    • Neuropsychologic and neuropsychiatric characteristics of patients with Friedreich's ataxia
    • White, M. et al. Neuropsychologic and neuropsychiatric characteristics of patients with Friedreich's ataxia. Acta Neurol. Scand. 102, 222-226 (2000).
    • (2000) Acta Neurol. Scand , vol.102 , pp. 222-226
    • White, M.1
  • 90
    • 0028908390 scopus 로고
    • Double-blind crossover study with levorotatory form of hydroxytryptophan in patients with degenerative cerebellar diseases
    • Wessel, K. et al. Double-blind crossover study with levorotatory form of hydroxytryptophan in patients with degenerative cerebellar diseases. Arch. Neurol. 52, 451-455 (1995).
    • (1995) Arch. Neurol , vol.52 , pp. 451-455
    • Wessel, K.1
  • 91
    • 34548143059 scopus 로고    scopus 로고
    • Quality of life in Friedreich ataxia: What clinical, social and demographic factors are important?
    • Wilson, C. L. et al. Quality of life in Friedreich ataxia: What clinical, social and demographic factors are important? Eur. J. Neurol. 14, 1040-1047 (2007).
    • (2007) Eur. J. Neurol , vol.14 , pp. 1040-1047
    • Wilson, C.L.1
  • 92
    • 0023189841 scopus 로고
    • Disability and quality of life in hereditary ataxias: A self-administered postal questionnaire
    • D'Ambrosio, R. et al. Disability and quality of life in hereditary ataxias: A self-administered postal questionnaire. Int. Disabil. Stud. 9, 10-14 (1987).
    • (1987) Int. Disabil. Stud , vol.9 , pp. 10-14
    • D'Ambrosio, R.1
  • 93
    • 0034268466 scopus 로고    scopus 로고
    • Anaesthesia for Friedreich's ataxia. Case report
    • Levent, K. et al. Anaesthesia for Friedreich's ataxia. Case report. Minerva Anestesiol. 66, 657-660 (2000).
    • (2000) Minerva Anestesiol , vol.66 , pp. 657-660
    • Levent, K.1
  • 94
    • 1842611720 scopus 로고    scopus 로고
    • Rocuronium for muscle relaxation in two children with Friedreich's ataxia
    • Schmitt, H. J. et al. Rocuronium for muscle relaxation in two children with Friedreich's ataxia. Br. J. Anaesth. 92, 592-596 (2004).
    • (2004) Br. J. Anaesth , vol.92 , pp. 592-596
    • Schmitt, H.J.1
  • 95
    • 34250633616 scopus 로고    scopus 로고
    • Propofol infusion syndrome
    • Kam, P. C. & Cardone, D. Propofol infusion syndrome. Anaesthesia 62, 690-701 (2007).
    • (2007) Anaesthesia , vol.62 , pp. 690-701
    • Kam, P.C.1    Cardone, D.2
  • 97
    • 0025094094 scopus 로고
    • Pregnancy associated with Friedreich ataxia
    • Bruner, J. P. & Yeast, J. D. Pregnancy associated with Friedreich ataxia. Obstet. Gynecol. 76, 976-977 (1990).
    • (1990) Obstet. Gynecol , vol.76 , pp. 976-977
    • Bruner, J.P.1    Yeast, J.D.2
  • 98
    • 33846882183 scopus 로고    scopus 로고
    • Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
    • Fogel, B. L. & Perlman, S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 6, 245-257 (2007).
    • (2007) Lancet Neurol , vol.6 , pp. 245-257
    • Fogel, B.L.1    Perlman, S.2
  • 99
    • 0033797860 scopus 로고    scopus 로고
    • Molecular analysis of Friedreich's ataxia locus in the Indian population
    • Mukerji, M. et al. Molecular analysis of Friedreich's ataxia locus in the Indian population. Acta Neurol. Scand. 102, 227-229 (2000).
    • (2000) Acta Neurol. Scand , vol.102 , pp. 227-229
    • Mukerji, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.