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Volumn 3, Issue 2, 2015, Pages 49-57

A Study of valproic acid for patients with spinal muscular atrophy

Author keywords

Modified Hammersmith Functional Motor Scale for SMA; Respiratory function; SMN; Spinal muscular atrophy; Valproic acid

Indexed keywords

CARNITINE; SURVIVAL MOTOR NEURON PROTEIN; VALPROIC ACID;

EID: 85061963401     PISSN: None     EISSN: 20494173     Source Type: Journal    
DOI: 10.1111/ncn3.140     Document Type: Article
Times cited : (6)

References (25)
  • 1
    • 80051554264 scopus 로고    scopus 로고
    • Spinal muscular atrophy: a timely review
    • Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch. Neurol. 2011; 68: 979-84.
    • (2011) Arch. Neurol. , vol.68 , pp. 979-984
    • Kolb, S.J.1    Kissel, J.T.2
  • 2
    • 0032991013 scopus 로고    scopus 로고
    • 59th ENMC InternationalWorkshop:Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands
    • Zerres K, Davies KE. 59th ENMC InternationalWorkshop:Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands. Neuromuscul. Disord. 1999; 9: 272-8.
    • (1999) Neuromuscul. Disord. , vol.9 , pp. 272-278
    • Zerres, K.1    Davies, K.E.2
  • 3
    • 34548167361 scopus 로고    scopus 로고
    • Consensus statement for standard of care in spinal muscular atrophy
    • Wang CH, Finkel RS, Bertini ES et al. Consensus statement for standard of care in spinal muscular atrophy. J. Child Neurol. 2007; 22: 1027-49.
    • (2007) J. Child Neurol. , vol.22 , pp. 1027-1049
    • Wang, C.H.1    Finkel, R.S.2    Bertini, E.S.3
  • 4
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre S, Bürglen L, Reboullet S et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80: 155-65.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Bürglen, L.2    Reboullet, S.3
  • 5
    • 0030981541 scopus 로고    scopus 로고
    • Correlation between severity and SMN protein level in spinal muscular atrophy
    • Lefebvre S, Burlet P, Liu Q et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat. Genet. 1997; 16: 265-9.
    • (1997) Nat. Genet. , vol.16 , pp. 265-269
    • Lefebvre, S.1    Burlet, P.2    Liu, Q.3
  • 6
    • 0034007548 scopus 로고    scopus 로고
    • An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
    • Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum. Mutat. 2000; 15: 228-37.
    • (2000) Hum. Mutat. , vol.15 , pp. 228-237
    • Wirth, B.1
  • 7
    • 0032799998 scopus 로고    scopus 로고
    • A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
    • Monani UR, Lorson CL, Parsons DW et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum. Mol. Genet. 1999; 8: 1177-83.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1177-1183
    • Monani, U.R.1    Lorson, C.L.2    Parsons, D.W.3
  • 8
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in theSMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in theSMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl Acad. Sci. USA 1999; 96: 6307-11.
    • (1999) Proc. Natl Acad. Sci. USA , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 9
    • 0036368287 scopus 로고    scopus 로고
    • Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
    • Mailman MD, Heinz JW, Papp AC et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet. Med. 2002; 4: 20-6.
    • (2002) Genet. Med. , vol.4 , pp. 20-26
    • Mailman, M.D.1    Heinz, J.W.2    Papp, A.C.3
  • 10
    • 0036042048 scopus 로고    scopus 로고
    • Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity
    • Harada Y, Sutomo R, Sadewa AH et al. Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. J. Neurol. 2002; 249: 1211-9.
    • (2002) J. Neurol. , vol.249 , pp. 1211-1219
    • Harada, Y.1    Sutomo, R.2    Sadewa, A.H.3
  • 11
    • 0141506887 scopus 로고    scopus 로고
    • Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy
    • Brichta L, Hofmann Y, Hahnen E et al. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum. Mol. Genet. 2003; 12: 2481-9.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2481-2489
    • Brichta, L.1    Hofmann, Y.2    Hahnen, E.3
  • 12
    • 0242290062 scopus 로고    scopus 로고
    • Valproic acid increases SMN levels in spinal muscular atrophy patient cells
    • Sumner CJ, Huynh TN, Markowitz JA et al. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann. Neurol. 2003; 54: 647-54.
    • (2003) Ann. Neurol. , vol.54 , pp. 647-654
    • Sumner, C.J.1    Huynh, T.N.2    Markowitz, J.A.3
  • 13
    • 33747083488 scopus 로고    scopus 로고
    • Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy
    • Weihl CC, Connolly AM, Pestronk A. Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy. Neurology 2006; 67: 500-1.
    • (2006) Neurology , vol.67 , pp. 500-501
    • Weihl, C.C.1    Connolly, A.M.2    Pestronk, A.3
  • 14
    • 33744803707 scopus 로고    scopus 로고
    • In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate
    • Brichta L, Holker I, Haug K, Klockgether T, Wirth B. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann. Neurol. 2006; 59: 970-5.
    • (2006) Ann. Neurol. , vol.59 , pp. 970-975
    • Brichta, L.1    Holker, I.2    Haug, K.3    Klockgether, T.4    Wirth, B.5
  • 15
    • 65849222556 scopus 로고    scopus 로고
    • Phase II open label study of valproic acid in spinal muscular atrophy
    • Swoboda KJ, Scott CB, Reyna SP et al. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS ONE 2009; 4: e5268.
    • (2009) PLoS ONE , vol.4 , pp. e5268
    • Swoboda, K.J.1    Scott, C.B.2    Reyna, S.P.3
  • 16
    • 79960141504 scopus 로고    scopus 로고
    • Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid
    • Piepers S, Cobben JM, Sodaar P et al. Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid. J. Neurol. Neurosurg. Psychiatry 2011; 82: 850-2.
    • (2011) J. Neurol. Neurosurg. Psychiatry , vol.82 , pp. 850-852
    • Piepers, S.1    Cobben, J.M.2    Sodaar, P.3
  • 17
    • 77957929588 scopus 로고    scopus 로고
    • SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy
    • Swoboda KJ, Scott CB, Crawford TO et al. SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS ONE 2010; 5: e12140.
    • (2010) PLoS ONE , vol.5 , pp. e12140
    • Swoboda, K.J.1    Scott, C.B.2    Crawford, T.O.3
  • 18
    • 79959988589 scopus 로고    scopus 로고
    • SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy
    • Kissel JT, Scott CB, Reyna SP et al. SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. PLoS ONE 2011; 6: e21296.
    • (2011) PLoS ONE , vol.6 , pp. e21296
    • Kissel, J.T.1    Scott, C.B.2    Reyna, S.P.3
  • 19
    • 79953096879 scopus 로고    scopus 로고
    • Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid
    • Darbar IA, Plaggert PG, Resende MB, Zanoteli E, Reed UC. Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid. BMC Neurol. 2011; 11: 36.
    • (2011) BMC Neurol. , vol.11 , pp. 36
    • Darbar, I.A.1    Plaggert, P.G.2    Resende, M.B.3    Zanoteli, E.4    Reed, U.C.5
  • 20
    • 84892504278 scopus 로고    scopus 로고
    • SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy
    • Kissel JT, Elsheikh B, King WM et al. SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy. Muscle Nerve 2014; 49: 187-92.
    • (2014) Muscle Nerve , vol.49 , pp. 187-192
    • Kissel, J.T.1    Elsheikh, B.2    King, W.M.3
  • 21
    • 33746355222 scopus 로고    scopus 로고
    • A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy
    • Krosschell KJ, Maczulski JA, Crawford TO, Scott C, Swoboda KJ. A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy. Neuromuscul. Disord. 2006; 16: 417-26.
    • (2006) Neuromuscul. Disord. , vol.16 , pp. 417-426
    • Krosschell, K.J.1    Maczulski, J.A.2    Crawford, T.O.3    Scott, C.4    Swoboda, K.J.5
  • 22
    • 84856962413 scopus 로고    scopus 로고
    • Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines
    • Harahap IS, Saito T, San LP et al. Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines. Brain Dev. 2012; 34: 213-22.
    • (2012) Brain Dev. , vol.34 , pp. 213-222
    • Harahap, I.S.1    Saito, T.2    San, L.P.3
  • 23
    • 0034042238 scopus 로고    scopus 로고
    • Maximum insufflation capacity: vital capacity and cough flows in neuromuscular disease
    • Kang SW, Bach JR. Maximum insufflation capacity: vital capacity and cough flows in neuromuscular disease. Am. J. Phys. Med. Rehabil. 2000; 79: 222-7.
    • (2000) Am. J. Phys. Med. Rehabil. , vol.79 , pp. 222-227
    • Kang, S.W.1    Bach, J.R.2
  • 24
    • 4544272373 scopus 로고    scopus 로고
    • Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement
    • Finder JD, Birnkrant D, Carl J et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am. J. Respir. Crit. Care Med. 2004; 170: 456-65.
    • (2004) Am. J. Respir. Crit. Care Med. , vol.170 , pp. 456-465
    • Finder, J.D.1    Birnkrant, D.2    Carl, J.3
  • 25
    • 10844284615 scopus 로고    scopus 로고
    • Benefit of valproic acid in suppressing disease progression of ALS model mice
    • Sugai F, Yamamoto Y, Miyaguchi K et al. Benefit of valproic acid in suppressing disease progression of ALS model mice. Eur. J. Neurosci. 2004; 20: 3179-83.
    • (2004) Eur. J. Neurosci. , vol.20 , pp. 3179-3183
    • Sugai, F.1    Yamamoto, Y.2    Miyaguchi, K.3


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