AN ANALYSIS OF DISEASE SEVERITY BASED ON SMN2 COPY NUMBER IN ADULTS WITH SPINAL MUSCULAR ATROPHY

被引：77

作者：

Elsheikh, Bakri ^{[1
]}

Prior, Thomas ^{[1
]}

Zhang, Xiaoli ^{[2
]}

Miller, Robert ^{[3
]}

Kolb, Stephen J. ^{[1
]}

Moore, Dan ^{[3
]}

Bradley, Walter ^{[4
]}

Barohn, Richard ^{[5
]}

Bryan, Wilson ^{[6
]}

Gelinas, Deborah ^{[7
]}

Iannaccone, Susan ^{[8
]}

Leshner, Robert ^{[9
]}

Mendell, Jerry R. ^{[1
,10
,11
]}

Mendoza, Michelle ^{[3
]}

Russman, Barry ^{[12
]}

Smith, Stephen ^{[13
]}

King, Wendy ^{[1
]}

Kissel, John T. ^{[1
]}

机构：

[1] Ohio State Univ, Dept Neurol, Columbus, OH 43210 USA

[2] Ohio State Univ, Dept Biostat, Columbus, OH 43210 USA

[3] Calif Pacific Med Ctr Res Inst, Forbes Norris ALS Ctr, San Francisco, CA USA

[4] Univ Miami, Dept Neurol, Miller Sch Med, Miami, FL USA

[5] Univ Kansas, Med Ctr, Dept Neurol, Kansas City, KS 66103 USA

[6] Biol Consulting Grp, Rockville, MD USA

[7] Harvard Univ, Nashoba Valley Healthcare Grp, Cambridge, MA 02138 USA

[8] Univ Texas SW Med Ctr Dallas, Dept Neurol, Dallas, TX 75390 USA

[9] Childrens Natl Med Ctr, Dept Neurol, Ctr Genet Med, Washington, DC 20010 USA

[10] Nationwide Childrens Res Inst, Columbus, OH USA

[11] Nationwide Childrens Hosp, Columbus, OH USA

[12] Shriners Hosp Children, Portland, OR 97201 USA

[13] Hennepin Cty Med Ctr, Dept Pathol, Minneapolis, MN 55415 USA

来源：

MUSCLE & NERVE | 2009年 / 40卷 / 04期

关键词：

SMA; SMN2 copy number; SMAFRS; motor neuron; MVIC; PHENOTYPE;

D O I：

10.1002/mus.21350

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

To evaluate the effect of SMN2 copy number on disease severity in spinal muscular atrophy (SMA), we stratified 45 adult SMA patients based on SMN2 copy number (3 vs. 4 copies). Patients with 3 copies had an earlier age of onset and lower spinal muscular atrophy functional rating scale (SMAFRS) scores and were more likely to be non-ambulatory. There was, however, no difference between the groups in quantitative muscle strength or pulmonary function testing. Functional scale may be a more discriminating outcome measure for SMA clinical trials. Muscle Nerve 40: 652-656, 2009

引用

页码：652 / 656

页数：5

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