Observational study of spinal muscular atrophy type I and implications for clinical trials

Neurology

Volumn 83, Issue 9, 2014, Pages 810-817

  Finkel, Richard S ^h   McDermott, Michael P ^c   Kaufmann, Petra ^d   Darras, Basil T ^e   Chung, Wendy K ^d   Sproule, Douglas M ^d   Kang, Peter B ⁱ   Reghan Foley, A ^a,b   Yang, Michelle L ^a,b   Martens, William B ^c   Oskoui, Maryam ^g   Glanzman, Allan M ^a   Flickinger, Jean ^a   Montes, Jacqueline ^d   Dunaway, Sally ^d   O'Hagen, Jessica ^d   Quigley, Janet ^e   Riley, Susan ^e   Benton, Maryjane ^a   Ryan, Patricia A ^d   Montgomery, Megan ^d   Marra, Jonathan ^d   Gooch, Clifton ^f   De Vivo, Darryl C ^d   more..

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF ROCHESTER   (United States)

^d Och Spine at New York Presbyterian Hospitals   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f UNIVERSITY OF SOUTH FLORIDA   (United States)

^g MCGILL UNIVERSITY   (Canada)

^h NEMOURS CHILDREN S HOSPITAL   (United States)

ⁱ UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AIRWAY OBSTRUCTION; ARTICLE; CHILD; CHRONIC PATIENT; CLINICAL FEATURE; CLINICAL TRIAL (TOPIC); FEMALE; HEART ARREST; HUMAN; LUNG INFECTION; MAJOR CLINICAL STUDY; MALE; MORTALITY; MOTOR PERFORMANCE; NONINVASIVE VENTILATION; NUTRITIONAL SUPPORT; OBSERVATIONAL STUDY; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; SPINAL MUSCULAR ATROPHY TYPE I; TRACHEOSTOMY; CLINICAL TRIAL; COHORT ANALYSIS; HEREDITARY SPINAL MUSCULAR ATROPHY; INFANT; METHODOLOGY; MULTICENTER STUDY;

COHORT STUDIES; FEMALE; HUMANS; INFANT; MALE; RESEARCH DESIGN; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 84925946878     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000741     Document Type: Article

References (21)

1. Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of .72, 400 specimens. Eur J Hum Genet 2012;20:27-32.
2. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
3. Lorson C, Hahnen E, Androphy E, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999;96:6307-6311.
4. Feldkötter M, Schwarzer V, Wirth R, Wienker T, 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. Am J Hum Genet 2002;70:358-368.
5. Gabanella F, Carissimi C, Usiello A, Pellizzoni L. The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation. Hum Mol Genet 2005;14:3629-3642.
6. Zerres K, Rudnik-Schöneborn S. Natural history in proximal spinal muscular atrophy: clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995;52:518-523.
7. Munsat T, Davies K. Spinal muscular atrophy. 32nd ENMC International Workshop. Naarden, The Netherlands, 10-12 March, 1995. Neuromuscul Disord 1996;6:125-127.
8. Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): An expanding clinical phenotype. Eur J Paediatr Neurol 1999;3:49-51.
9. Thomas NH, Dubowitz V. The natural history of type I (severe) spinal muscular atrophy. Neuromuscul Disord 1994;4:497-502.
10. Bertini E, Burghes A, Bushby K, et al. 134th ENMC International Workshop: outcome measures and treatment of spinal muscular atrophy, 11-13 February, 2005, Naarden, The Netherlands. Neuromuscul Disord 2005;15:802-816.
11. Oskoui M, Levy G, Garland C, et al. The changing natural history of spinal muscular atrophy type 1. Neurology 2007;69:1931-1936.
12. Kaufmann P, McDermott MP, Darras BT, et al. Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol 2011;68: 779-786.
13. Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology 2012;79:1889-1897.
14. Wang C, Finkel R, Bertini E, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22:1027-1049.
15. Glanzman A, Mazzone E, Main M, et al. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability. Neuromuscul Disord 2010;20:155-161.
16. Glanzman AM, O'Hagen JM, McDermott MP, et al. Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol 2011;26:1499-1507.
17. Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol 2005;57:704-712.
18. Lemoine TJ, Swoboda KJ, Bratton SL, Holubkov R, Mundorff M, Srivastava R. Spinal muscular atrophy type 1: Are proactive respiratory interventions associated with longer survival? Pediatr Crit Care Med 2012;13:e161-e165.
19. Rudnik-Schoneborn S, Lutzenrath S, Borkowska J, Karwanska A, Hausmanowa-Petrusewicz I, Zerres K. Analysis of creatine kinase activity in 504 patients with proximal spinal muscular atrophy types I-III from the point of view of progression and severity. Eur Neurol 1998;39: 154-162.
20. Crawford TO, Sladky JT, Hurko O, Besner-Johnston A, Kelley RI. Abnormal fatty acid metabolism in childhood spinal muscular atrophy. Ann Neurol 1999;45:337-343.
21. Bowerman M, Swoboda KJ, Michalski JP, et al. Glucose metabolism and pancreatic defects in spinal muscular atrophy. Ann Neurol 2012;72:256-268.