Prospective cohort study of spinal muscular atrophy types 2 and 3

被引：190

作者：

Kaufmann, Petra ^{[1
]}

McDermott, Michael P. ^{[3
,4
]}

Darras, Basil T. ^{[5
]}

Finkel, Richard S. ^{[6
]}

Sproule, Douglas M. ^{[1
,2
]}

Kang, Peter B. ^{[5
]}

Oskoui, Maryam ^{[7
]}

Constantinescu, Andrei ^{[2
]}

Gooch, Clifton L. ^{[8
]}

Foley, A. Reghan ^{[6
]}

Yang, Michele L. ^{[6
]}

Tawil, Rabi ^{[4
]}

Chung, Wendy K. ^{[2
]}

Martens, William B. ^{[4
]}

Montes, Jacqueline ^{[1
]}

Battista, Vanessa ^{[1
]}

O'Hagen, Jessica ^{[1
]}

Dunaway, Sally ^{[1
]}

Flickinger, Jean ^{[6
]}

Quigley, Janet ^{[5
]}

Riley, Susan ^{[5
]}

Glanzman, Allan M. ^{[9
]}

Benton, Maryjane ^{[6
]}

Ryan, Patricia A. ^{[1
]}

Punyanitya, Mark ^{[10
]}

Montgomery, Megan J. ^{[1
]}

Marra, Jonathan ^{[1
]}

Koo, Benjamin ^{[1
]}

De Vivo, Darryl C. ^{[1
,2
]}

机构：

[1] Columbia Univ, Dept Neurol, New York, NY 10027 USA

[2] Columbia Univ, Dept Pediat, New York, NY 10027 USA

[3] Univ Rochester, Dept Biostat & Computat Biol, Rochester, NY USA

[4] Univ Rochester, Dept Neurol, Rochester, NY USA

[5] Harvard Univ, Sch Med, Dept Neurol, Childrens Hosp Boston, Boston, MA 02115 USA

[6] Univ Penn, Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA

[7] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada

[8] Univ S Florida, Dept Neurol, Tampa, FL 33620 USA

[9] Childrens Hosp Philadelphia, Dept Phys Therapy, Philadelphia, PA 19104 USA

[10] Columbia Univ, St Lukes Roosevelt Hosp, Obes Res Ctr, New York, NY USA

来源：

NEUROLOGY | 2012年 / 79卷 / 18期

关键词：

FUNCTIONAL MOTOR SCALE; PLACEBO-CONTROLLED TRIAL; MUSCLE STRENGTH; DOUBLE-BLIND; HYDROXYUREA; CHILDREN; VERSION;

D O I：

10.1212/WNL.0b013e318271f7e4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: To characterize the natural history of spinal muscular atrophy type 2 and type 3 (SMA 2/3) beyond 1 year and to report data on clinical and biological outcomes for use in trial planning. Methods: We conducted a prospective observational cohort study of 79 children and young adults with SMA 2/3 who participated in evaluations for up to 48 months. Clinically, we evaluated motor and pulmonary function, quality of life, and muscle strength. We also measured SMN2 copy number, hematologic and biochemical profiles, muscle mass by dual x-ray absorptiometry (DXA), and the compound motor action potential (CMAP) in a hand muscle. Data were analyzed for associations between clinical and biological/laboratory characteristics cross-sectionally, and for change over time in outcomes using all available data. Results: In cross-sectional analyses, certain biological measures (specifically, CMAP, DXA fat-free mass index, and SMN2 copy number) and muscle strength measures were associated with motor function. Motor and pulmonary function declined over time, particularly at time points beyond 12 months of follow-up. Conclusion: The intermediate and mild phenotypes of SMA show slow functional declines when observation periods exceed 1 year. Whole body muscle mass, hand muscle compound motor action potentials, and muscle strength are associated with clinical measures of motor function. The data from this study will be useful for clinical trial planning and suggest that CMAP and DXA warrant further evaluation as potential biomarkers. Neurology (R) 2012; 79: 1889-1897

引用

页码：1889 / 1897

页数：9

共 29 条

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