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Volumn 4, Issue 5, 2009, Pages

Phase II open label study of valproic acid in spinal muscular atrophy

(17)  Swoboda, Kathryn J a   Scott, Charles B b   Reyna, Sandra P a   Prior, Thomas W c   LaSalle, Bernard a   Sorenson, Susan L a   Wood, Janine a   Acsadi, Gyula d   Crawford, Thomas O e   Kissel, John T c   Krosschell, Kristin J f   D'Anjou, Guy g   Bromberg, Mark B a   Schroth, Mary K h   Chan, Gary M a   Elsheikh, Bakri c   Simard, Louise R i  


Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; MESSENGER RNA; VALPROATE SEMISODIUM; ENZYME INHIBITOR; SMN2 PROTEIN, HUMAN; SURVIVAL MOTOR NEURON PROTEIN 2; VALPROIC ACID;

EID: 65849222556     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0005268     Document Type: Article
Times cited : (153)

References (45)
  • 1
    • 0029809929 scopus 로고    scopus 로고
    • Spinal muscular atrophies: Recent insights and impact on molecular diagnosis
    • Brahe C, Bertini E (1996) Spinal muscular atrophies: recent insights and impact on molecular diagnosis. J Mol Med 74: 555-562.
    • (1996) J Mol Med , vol.74 , pp. 555-562
    • Brahe, C.1    Bertini, E.2
  • 3
    • 0018238065 scopus 로고
    • Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
    • Pearn J (1978) Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 15: 409-413.
    • (1978) J Med Genet , vol.15 , pp. 409-413
    • Pearn, J.1
  • 4
    • 0024310186 scopus 로고
    • A hungarian study on Werdnig-Hoffmann disease
    • Czeizel A, Hamula J (1989) A hungarian study on Werdnig-Hoffmann disease. J Med Genet 26: 761-763.
    • (1989) J Med Genet , vol.26 , pp. 761-763
    • Czeizel, A.1    Hamula, J.2
  • 5
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases-a world survey
    • Emery AE (1991) Population frequencies of inherited neuromuscular diseases-a world survey. Neuromuscul Disord 1: 19-29.
    • (1991) Neuromuscul Disord , vol.1 , pp. 19-29
    • Emery, A.E.1
  • 6
    • 0026490348 scopus 로고
    • Epidemiology of neuromuscular disorders in the under-20 population in Bologna Province, Italy
    • Merlini L, Stagni SB, Marri E, Granata C (1992) Epidemiology of neuromuscular disorders in the under-20 population in Bologna Province, Italy. Neuromuscul Disord 2: 197-200.
    • (1992) Neuromuscul Disord , vol.2 , pp. 197-200
    • Merlini, L.1    Stagni, S.B.2    Marri, E.3    Granata, C.4
  • 7
    • 0028797783 scopus 로고
    • Identification and Characterization of a Spinal Muscular Atrophy-determining Gene
    • Lefebvre S, Burgien L, Reboullet S, Clermont O, Burlet P, et al. (1995) Identification and Characterization of a Spinal Muscular Atrophy-determining Gene. Cell 80: 155-165.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Burgien, L.2    Reboullet, S.3    Clermont, O.4    Burlet, P.5
  • 8
    • 20744455958 scopus 로고
    • The Survival of Motor Neurons Protein Determines the Capacity for snRNP Assembly: Biochemical Deficiency in Spinal Muscular Atrophy
    • Wan L, Battle DJ, Yong J, Gubitz AK, Kolb SJ, et al. (1995) The Survival of Motor Neurons Protein Determines the Capacity for snRNP Assembly: Biochemical Deficiency in Spinal Muscular Atrophy. Mol Cell Biol 25(13): 5543-51.
    • (1995) Mol Cell Biol , vol.25 , Issue.13 , pp. 5543-5551
    • Wan, L.1    Battle, D.J.2    Yong, J.3    Gubitz, A.K.4    Kolb, S.J.5
  • 9
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson CL, Hahnen E, Androphy EJ, Wirth B (1998) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 96: 6307-6311.
    • (1998) Proc Natl Acad Sci USA , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 10
    • 0036154959 scopus 로고    scopus 로고
    • Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy (2002) Am J Hum Genet. 70(2): 358-368.
    • Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy (2002) Am J Hum Genet. 70(2): 358-368.
  • 11
    • 0036368287 scopus 로고    scopus 로고
    • Molecular Analysis of Spinal Muscular Atrophy and Modification of the Phenotype by SMN2
    • Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, et al. (2002) Molecular Analysis of Spinal Muscular Atrophy and Modification of the Phenotype by SMN2. Genet Med 4: 20-26.
    • (2002) Genet Med , vol.4 , pp. 20-26
    • Mailman, M.D.1    Heinz, J.W.2    Papp, A.C.3    Snyder, P.J.4    Sedra, M.S.5
  • 12
    • 18244407748 scopus 로고    scopus 로고
    • Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function
    • Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, et al. (2005) Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol 57: 704-712.
    • (2005) Ann Neurol , vol.57 , pp. 704-712
    • Swoboda, K.J.1    Prior, T.W.2    Scott, C.B.3    McNaught, T.P.4    Wride, M.C.5
  • 13
    • 33645743043 scopus 로고    scopus 로고
    • Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
    • Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, et al. (2006) Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 119: 422-428.
    • (2006) Hum Genet , vol.119 , pp. 422-428
    • Wirth, B.1    Brichta, L.2    Schrank, B.3    Lochmüller, H.4    Blick, S.5
  • 14
    • 4744368810 scopus 로고    scopus 로고
    • Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2
    • Prior TW, Swoboda KJ, Scott HD, Hejmanowski AQ (2004) Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet A 130: 307-310.
    • (2004) Am J Med Genet A , vol.130 , pp. 307-310
    • Prior, T.W.1    Swoboda, K.J.2    Scott, H.D.3    Hejmanowski, A.Q.4
  • 15
    • 0030981541 scopus 로고    scopus 로고
    • Correlation between severity and SMN protein level in spinal muscular atrophy
    • Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, et al. (1997) Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 16: 265-269.
    • (1997) Nat Genet , vol.16 , pp. 265-269
    • Lefebvre, S.1    Burlet, P.2    Liu, Q.3    Bertrandy, S.4    Clermont, O.5
  • 17
    • 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, Siebzehnrubl FA, Raschke H, et al. (2003) Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 12: 2481-2489.
    • (2003) Hum Mol Genet , vol.12 , pp. 2481-2489
    • Brichta, L.1    Hofmann, Y.2    Hahnen, E.3    Siebzehnrubl, F.A.4    Raschke, H.5
  • 18
    • 0242290062 scopus 로고    scopus 로고
    • Valproic acid increases SMN levels in spinal muscular atrophy patient cells
    • Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, et al. (2003) Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol 54: 647-654.
    • (2003) Ann Neurol , vol.54 , pp. 647-654
    • Sumner, C.J.1    Huynh, T.N.2    Markowitz, J.A.3    Perhac, J.S.4    Hill, B.5
  • 19
    • 10744229981 scopus 로고    scopus 로고
    • Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy
    • Andreassi C, Angelozzi C, Tiziano FD, Vitali T, De Vincenzi E, et al. (2004) Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet 12: 59-65.
    • (2004) Eur J Hum Genet , vol.12 , pp. 59-65
    • Andreassi, C.1    Angelozzi, C.2    Tiziano, F.D.3    Vitali, T.4    De Vincenzi, E.5
  • 20
    • 23244458683 scopus 로고    scopus 로고
    • Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
    • Grzeschik SM, Ganta M, Prior TW, Heavlin WD, Wang CH (2005) Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol 58: 194-202.
    • (2005) Ann Neurol , vol.58 , pp. 194-202
    • Grzeschik, S.M.1    Ganta, M.2    Prior, T.W.3    Heavlin, W.D.4    Wang, C.H.5
  • 21
    • 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 (2006) In Vivo Activation of SMN in Spinal Muscular Atrophy Carriers and Patients Treated with Valproate. Ann Neurol 59: 970-975.
    • (2006) Ann Neurol , vol.59 , pp. 970-975
    • Brichta, L.1    Holker, I.2    Haug, K.3    Klockgether, T.4    Wirth, B.5
  • 22
    • 13544258982 scopus 로고    scopus 로고
    • Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
    • Brahe C, Vitali T, Tiziano FD, Angelozzi C, Pinto AM, et al. (2005) Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet 13: 256-259.
    • (2005) Eur J Hum Genet , vol.13 , pp. 256-259
    • Brahe, C.1    Vitali, T.2    Tiziano, F.D.3    Angelozzi, C.4    Pinto, A.M.5
  • 24
    • 33746065340 scopus 로고    scopus 로고
    • Endogenous α-Synuclein is Induced by Valproic Acid through Histone Deacetylase Inhibition and Participates in Neuroprotection against Glutamate-Induced Excitotoxicity
    • Leng Y, Chuang DM (2006) Endogenous α-Synuclein is Induced by Valproic Acid through Histone Deacetylase Inhibition and Participates in Neuroprotection against Glutamate-Induced Excitotoxicity. J Neurosci 26(28): 7502-7512.
    • (2006) J Neurosci , vol.26 , Issue.28 , pp. 7502-7512
    • Leng, Y.1    Chuang, D.M.2
  • 25
    • 33645282527 scopus 로고    scopus 로고
    • Valproic acid promotes neurite outgrowth in PC12 cells independent from regulation of the survival of motoneuron protein
    • van Bergeijk J, Haastert K, Grothe C, Claus P (2006) Valproic acid promotes neurite outgrowth in PC12 cells independent from regulation of the survival of motoneuron protein. Chem Biol Drug Des 67: 244-247.
    • (2006) Chem Biol Drug Des , vol.67 , pp. 244-247
    • van Bergeijk, J.1    Haastert, K.2    Grothe, C.3    Claus, P.4
  • 26
    • 10844284615 scopus 로고    scopus 로고
    • Benefit of valproic acid in suppressing disease progression of ALS model mice
    • Sugai F, Yamamoto Y, Miyaguchi K, Zhou Z, Sumi H, et al. (2004) Benefit of valproic acid in suppressing disease progression of ALS model mice. Eur J Neurosci 20: 3179-3183.
    • (2004) Eur J Neurosci , vol.20 , pp. 3179-3183
    • Sugai, F.1    Yamamoto, Y.2    Miyaguchi, K.3    Zhou, Z.4    Sumi, H.5
  • 27
    • 33645076252 scopus 로고    scopus 로고
    • Additive neuroprotective effects of a histone deacetylase inhibitor and a catalytic antioxidant in a transgenic mouse model of amyotrophic lateral sclerosis
    • Petri S, Kiaei M, Kipiani K, Chen J, Chalingasan NY, et al. (2006) Additive neuroprotective effects of a histone deacetylase inhibitor and a catalytic antioxidant in a transgenic mouse model of amyotrophic lateral sclerosis. Neurobiol Dis 22: 40-49.
    • (2006) Neurobiol Dis , vol.22 , pp. 40-49
    • Petri, S.1    Kiaei, M.2    Kipiani, K.3    Chen, J.4    Chalingasan, N.Y.5
  • 28
    • 33750001213 scopus 로고    scopus 로고
    • Establishing a standardized therapeutic testing protocol for spinal muscular atrophy
    • Tsai LK, Tsai MS, Lin TB, Hwu WL, Li H (2006) Establishing a standardized therapeutic testing protocol for spinal muscular atrophy. Neurobiol Dis 24: 286-295.
    • (2006) Neurobiol Dis , vol.24 , pp. 286-295
    • Tsai, L.K.1    Tsai, M.S.2    Lin, T.B.3    Hwu, W.L.4    Li, H.5
  • 29
    • 54249110856 scopus 로고    scopus 로고
    • Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice
    • Tsai LK, Tsai MS, Ting CH, Li H (2008) Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice. J Mol Med 86: 1243-1254.
    • (2008) J Mol Med , vol.86 , pp. 1243-1254
    • Tsai, L.K.1    Tsai, M.S.2    Ting, C.H.3    Li, H.4
  • 30
    • 33747083488 scopus 로고    scopus 로고
    • Valproate may improve strength and function in patients with type III/IV spinal muscular atrophy
    • Weihl CC, Connolly AM, Pestronk A (2006) Valproate may improve strength and function in patients with type III/IV spinal muscular atrophy. Neurology 67: 500-501.
    • (2006) Neurology , vol.67 , pp. 500-501
    • Weihl, C.C.1    Connolly, A.M.2    Pestronk, A.3
  • 31
    • 36248958610 scopus 로고    scopus 로고
    • Valproic acid treatment in six patients with spinal muscular atrophy
    • Tsai LK, Yang CC, Hwu WL, Li H (2007) Valproic acid treatment in six patients with spinal muscular atrophy. Eur J Neurol 14: e8-e9.
    • (2007) Eur J Neurol , vol.14
    • Tsai, L.K.1    Yang, C.C.2    Hwu, W.L.3    Li, H.4
  • 32
    • 0043092414 scopus 로고    scopus 로고
    • The Hammersmith functional motor scale for children with spinal muscular atrophy: A scale to test ability and monitor progress in children with limited ambulation
    • Main M, Kairon K, Mercuri E, Muntoni F (2003) The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol 7: 155-159.
    • (2003) Eur J Paediatr Neurol , vol.7 , pp. 155-159
    • Main, M.1    Kairon, K.2    Mercuri, E.3    Muntoni, F.4
  • 33
    • 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 (2006) A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy. Neuromuscul Disord 16: 417-426.
    • (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
  • 34
    • 31944440025 scopus 로고    scopus 로고
    • Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a Multicentric Study
    • Mercuri E, Messina S, Battini R, Berrardinelli A, Boffi P, et al. (2006) Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a Multicentric Study. Neuromuscul Disord 16: 93-98.
    • (2006) Neuromuscul Disord , vol.16 , pp. 93-98
    • Mercuri, E.1    Messina, S.2    Battini, R.3    Berrardinelli, A.4    Boffi, P.5
  • 35
    • 0036194714 scopus 로고    scopus 로고
    • Motor unit number estimation in infants and children with spinal muscular atrophy
    • Bromberg MB, Swoboda KJ (2002) Motor unit number estimation in infants and children with spinal muscular atrophy. Muscle Nerve 25: 445-447.
    • (2002) Muscle Nerve , vol.25 , pp. 445-447
    • Bromberg, M.B.1    Swoboda, K.J.2
  • 36
    • 33846820104 scopus 로고    scopus 로고
    • Preclinical validation of a multiplex real-time RT-PCR assay to quantify SMN transcripts in whole blood from SMA patients
    • Simard LR, Belanger M-C, Morrissette S, Wride M, Prior TW, et al. (2007) Preclinical validation of a multiplex real-time RT-PCR assay to quantify SMN transcripts in whole blood from SMA patients. Neurology 68: 451-456.
    • (2007) Neurology , vol.68 , pp. 451-456
    • Simard, L.R.1    Belanger, M.-C.2    Morrissette, S.3    Wride, M.4    Prior, T.W.5
  • 38
    • 0028059055 scopus 로고
    • Carnitine-dependent changes of metabolic fuel consumption during long-term treatment with valproic acid
    • Melegh B, Pap M, Morava E, Molnar D, Dani M, et al. (1994) Carnitine-dependent changes of metabolic fuel consumption during long-term treatment with valproic acid. J Pediatr 125: 317-321.
    • (1994) J Pediatr , vol.125 , pp. 317-321
    • Melegh, B.1    Pap, M.2    Morava, E.3    Molnar, D.4    Dani, M.5
  • 39
    • 0028938758 scopus 로고
    • Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: Primary or secondary defect(s)?
    • Tein I, Sloane AE, Donner EJ, Lehotay DC, Millington DS, et al. (1995) Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)? Pediatr Neurol 12: 21-30.
    • (1995) Pediatr Neurol , vol.12 , pp. 21-30
    • Tein, I.1    Sloane, A.E.2    Donner, E.J.3    Lehotay, D.C.4    Millington, D.S.5
  • 41
    • 0021356737 scopus 로고
    • Carnitine deficiency: A possible mechanism for valproate hepatotoxicity
    • Coulter DL (1984) Carnitine deficiency: a possible mechanism for valproate hepatotoxicity. Lancet 1(8378): 689.
    • (1984) Lancet 1 , vol.8378 , pp. 689
    • Coulter, D.L.1
  • 42
    • 33646835270 scopus 로고    scopus 로고
    • Effect of carbamezapine and valproic acid on bone mineral density, IGF-I and IGFBP-3
    • Kumandas S, Koklu E, Gümüs H, Koklu S, Kurtoglu S, et al. (2006) Effect of carbamezapine and valproic acid on bone mineral density, IGF-I and IGFBP-3. J Pediatr Endocrinol Metab 19: 529-534.
    • (2006) J Pediatr Endocrinol Metab , vol.19 , pp. 529-534
    • Kumandas, S.1    Koklu, E.2    Gümüs, H.3    Koklu, S.4    Kurtoglu, S.5
  • 43
    • 1842786823 scopus 로고    scopus 로고
    • The effect of valproate on bone mineral density in adult epileptic patients
    • Boluk A, Guzelipek M, Savli H, Temel I, Iin Oziik H, et al. (2004) The effect of valproate on bone mineral density in adult epileptic patients. Pharmacol Res 50: 93-97.
    • (2004) Pharmacol Res , vol.50 , pp. 93-97
    • Boluk, A.1    Guzelipek, M.2    Savli, H.3    Temel, I.4    Iin Oziik, H.5
  • 44
    • 4644245150 scopus 로고    scopus 로고
    • Effect of carbamazepine and valproate on bone mineral density
    • Ecevit C, Aydoǧan A, Kavakli T, Altinöz S (2004) Effect of carbamazepine and valproate on bone mineral density. Pediatr Neurol 31: 279-282.
    • (2004) Pediatr Neurol , vol.31 , pp. 279-282
    • Ecevit, C.1    Aydoǧan, A.2    Kavakli, T.3    Altinöz, S.4


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