Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid
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Citações na Scopus
37
Tipo de produção
article
Data de publicação
2011
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Editora
BIOMED CENTRAL LTD
Citação
BMC NEUROLOGY, v.11, article ID 36, 5p, 2011
Resumo
Background: Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects the motoneurons of the spinal anterior horn, resulting in hypotonia and muscle weakness. The disease is caused by deletion or mutation in the telomeric copy of SMN gene (SMN1) and clinical severity is in part determined by the copy number of the centromeric copy of the SMN gene (SMN2). The SMN2 mRNA lacks exon 7, resulting in a production of lower amounts of the full-length SMN protein. Knowledge of the molecular mechanism of diseases has led to the discovery of drugs capable of increasing SMN protein level through activation of SMN2 gene. One of these drugs is the valproic acid (VPA), a histone deacetylase inhibitor. Methods: Twenty-two patients with type II and III SMA, aged between 2 and 18 years, were treated with VPA and were evaluated five times during a one-year period using the Manual Muscle Test (Medical Research Council scale-MRC), the Hammersmith Functional Motor Scale (HFMS), and the Barthel Index. Results: After 12 months of therapy, the patients did not gain muscle strength. The group of children with SMA type II presented a significant gain in HFMS scores during the treatment. This improvement was not observed in the group of type III patients. The analysis of the HFMS scores during the treatment period in the groups of patients younger and older than 6 years of age did not show any significant result. There was an improvement of the daily activities at the end of the VPA treatment period. Conclusion: Treatment of SMA patients with VPA may be a potential alternative to alleviate the progression of the disease.
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Referências
- Chan YC, 2007, HUM EXP TOXICOL, V26, P967, DOI 10.1177/0960327107087799
- McAndrew PE, 1997, AM J HUM GENET, V60, P1411, DOI 10.1086/515465
- SCOTT OM, 1982, MUSCLE NERVE, V5, P291, DOI 10.1002/mus.880050405
- Tsai LK, 2007, EUR J NEUROL, V14, pE8, DOI 10.1111/j.1468-1331.2007.01992.x
- Kernochan LE, 2005, HUM MOL GENET, V14, P1171, DOI 10.1093/hmg/ddi130
- Brichta L, 2003, HUM MOL GENET, V12, P2481, DOI 10.1093/hmg/ddg256
- Anil M, 2009, J CHILD NEUROL, V24, P80, DOI 10.1177/0883073808321060
- Sumner CJ, 2003, ANN NEUROL, V54, P647, DOI 10.1002/ana.10743
- Brichta L, 2006, ANN NEUROL, V59, P970, DOI 10.1002/ana.20836
- LEFEBVRE S, 1995, CELL, V80, P155, DOI 10.1016/0092-8674(95)90460-3
- Weihl CC, 2006, NEUROLOGY, V67, P500, DOI 10.1212/01.wnl.0000231139.26253.d0
- Tsai LK, 2008, J MOL MED, V86, P1243, DOI 10.1007/s00109-008-0388-1
- Velasco E, 1996, HUM MOL GENET, V5, P257, DOI 10.1093/hmg/5.2.257
- Parsons DW, 1998, AM J HUM GENET, V63, P1712, DOI 10.1086/302160
- Swoboda KJ, 2005, ANN NEUROL, V57, P704, DOI 10.1002/ana.20473
- Andreassi C, 2004, EUR J HUM GENET, V12, P59, DOI 10.1038/sj.ejhg.5201102
- Main M, 2003, EUR J PAEDIATR NEURO, V7, P155, DOI 10.1016/S1090-3798(03)00060-6
- Lheureux PER, 2009, CLIN TOXICOL, V47, P101, DOI 10.1080/15563650902752376
- Silva MFB, 2008, J INHERIT METAB DIS, V31, P205, DOI 10.1007/s10545-008-0841-x
- Zerres K, 1997, J NEUROL SCI, V146, P67, DOI 10.1016/S0022-510X(96)00284-5
- Cid-Ruzafa J, 1997, Rev Esp Salud Publica, V71, P127, DOI 10.1590/S1135-57271997000200004
- Wirth B, 2006, HUM GENET, V119, P422, DOI 10.1007/s00439-006-0156-7
- MOSTACCIUOLO ML, 1992, NEUROEPIDEMIOLOGY, V11, P34, DOI 10.1159/000110905
- Munsat T. L., 1991, NEUROMUSCULAR DISORD, V1, P81, DOI 10.1016/0960-8966(91)90052-T
- Prior TW, 2004, AM J MED GENET A, V130A, P307, DOI 10.1002/ajmg.a.30251
- Swoboda KJ, 2010, PLOS ONE, V5, DOI 10.1371/journal.pone.0012140
- Swoboda KJ, 2009, PLOS ONE, V4, DOI 10.1371/journal.pone.0005268
- Swoboda KJ, 2007, J CHILD NEUROL, V22, P957, DOI 10.1177/0883073807305665
- THIEME A, 1993, HUM GENET, V91, P295
- Zanoteli E, 2010, FUNCT NEUROL, V25, P73