Natural history of infantile-onset spinal muscular atrophy

Annals of Neurology

Volumn 82, Issue 6, 2017, Pages 883-891

  Kolb, Stephen J ^a   Coffey, Christopher S ^b   Yankey, Jon W ^b   Krosschell, Kristin ^c   Arnold, W David ^a   Rutkove, Seward B ^d   Swoboda, Kathryn J ^e,f   Reyna, Sandra P ^e,g   Sakonju, Ai ^e,p   Darras, Basil T ^f   Shell, Richard ^h   Kuntz, Nancy ⁱ   Castro, Diana ^j   Parsons, Julie ^k   Connolly, Anne M ^l   Chiriboga, Claudia A ^m   McDonald, Craig ⁿ   Burnette, W Bryan ^o   Werner, Klaus ^p   Thangarajh, Mathula ^q   Shieh, Perry B ^r   Finanger, Erika ^s   Cudkowicz, Merit E ^t   McGovern, Michelle M ^t   McNeil, D Elizabeth ^g,u   Finkel, Richard ^v   Iannaccone, Susan T ^j   Kaye, Edward ^w   Kingsley, Allison ^a   Renusch, Samantha R ^a   McGovern, Vicki L ^a   Wang, Xueqian ^a   Zaworski, Phillip G ^x   Prior, Thomas W ^a   Burghes, Arthur H M ^a   Bartlett, Amy ^a   Kissel, John T ^a   more..

^a THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c NORTHWESTERN UNIVERSITY   (United States)

^d BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^f BOSTON CHILDREN S HOSPITAL   (United States)

^g BIOGEN   (United States)

^h NATIONWIDE CHILDREN S HOSPITAL   (United States)

ⁱ CHILDREN'S MEMORIAL HOSPITAL   (United States)

^j UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^k UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^l WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m Department of Neurology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain   (United States)

ⁿ UNIVERSITY OF CALIFORNIA   (United States)

^o VANDERBILT UNIVERSITY   (United States)

^p SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

^q CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^r UNIVERSITY OF CALIFORNIA   (United States)

^s OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^t MASSACHUSETTS GENERAL HOSPITAL   (United States)

^u NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^v NEMOURS CHILDREN S HOSPITAL   (United States)

^w AVI BIOPHARMA INC   (United States)

^x PharmOptima   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SURVIVAL MOTOR NEURON PROTEIN 2; BIOLOGICAL MARKER; SMN1 PROTEIN, HUMAN; SMN2 PROTEIN, HUMAN; SURVIVAL MOTOR NEURON PROTEIN 1;

ALBERTA INFANT MOTOR SCORE; ARTICLE; CHILDREN HOSPITAL OF PHILADELPHIA INFANT TEST FOR NEUROMUSCULAR DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; CORRELATIONAL STUDY; DEATH; DISEASE COURSE; DROPLET DIGITAL POLYMERASE CHAIN REACTION; HUMAN; INFANT; LONGITUDINAL STUDY; MOTOR PERFORMANCE; MULTICENTER STUDY; MUSCLE ACTION POTENTIAL; NEUROLOGIC DISEASE ASSESSMENT; ONSET AGE; PRIORITY JOURNAL; PROSPECTIVE STUDY; RISK FACTOR; SPINAL MUSCULAR ATROPHY; SURVIVAL ANALYSIS; TEST OF INFANT MOTOR PERFORMANCE SCREENING ITEM; BLOOD; CLINICAL TRIAL; COHORT ANALYSIS; FEMALE; GENETICS; HEREDITARY SPINAL MUSCULAR ATROPHY; MALE; PRESCHOOL CHILD;

BIOMARKERS; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HUMANS; INFANT; LONGITUDINAL STUDIES; MALE; PROSPECTIVE STUDIES; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 85038413158     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.25101     Document Type: Article

References (43)

1. Pearn JH. The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England. J Med Genet 1973;10:260–265.
2. 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.
3. Zerres K, Rudnik-Schoneborn 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.
4. Munsat T, Davies K. Spinal muscular atrophy. In: 32nd ENMC International Workshop. Naarden, The Netherlands, 10–12 March 1995. Neuromuscul Disord 1996;6:125–127.
5. Lefebvre S, Burlet P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997;16:265–269.
6. Coovert DD, Le TT, McAndrew PE, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 1997;6:1205–1214.
7. Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 1999;96:6307–6311.
8. Monani UR, Lorson CL, Parsons DW, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999;8:1177–1183.
9. Burnett BG, Munoz E, Tandon A, et al. Regulation of SMN protein stability. Mol Cell Biol 2009;29:1107–1115.
10. Kashima T, Manley JL. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 2003;34:460–463.
11. McAndrew PE, Parsons DW, Simard LR, et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 1997;60:1411–1422.
12. 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. Am J Hum Genet 2002;70:358–368.
13. Elsheikh B, Prior T, Zhang X, et al. An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy. Muscle Nerve 2009;40:652–656.
14. Monani UR, Sendtner M, Coovert DD, et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet 2000;9:333–339.
15. Arnold WD, Burghes AH. Spinal muscular atrophy: development and implementation of potential treatments. Ann Neurol 2013;74:348–362.
16. Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol 2011;68:979–984.
17. Chiriboga CA, Swoboda KJ, Darras BT, et al. Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy. Neurology 2016;86:890–897.
18. Finkel RS, Chiriboga CA, Vajsar J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet 2017;388:3017–3026.
19. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22:1027–1049.
20. Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology 2007;69:1931–1936.
21. Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol 2012;11:443–452.
22. Finkel RS, McDermott MP, Kaufmann P, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology 2014;83:810–817.
23. De Sanctis R, Coratti G, Pasternak A, et al. Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord 2016;26:754–759.
24. Kolb SJ, Coffey CS, Yankey JW, et al; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Ann Clin Transl Neurol 2016;3:132–145.
25. Heemskerk J, Farkas R, Kaufmann P. Neuroscience networking: linking discovery to drugs. Neuropsychopharmacology 2012;37:287–289.
26. The Lancet Neurology. NeuroNEXT: accelerating drug development in neurology. Lancet Neurol 2012;11:119.
27. Kaufmann P, O'Rourke PP. Central institutional review board review for an academic trial network. Acad Med 2015;90:321–323.
28. Prior TW, Snyder PJ, Rink BD, et al. Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A 2010;152A:1608–1616.
29. Prior TW, Krainer AR, Hua Y, et al. A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet 2009;85:408–413.
30. Bernal S, Alias L, Barcelo MJ, et al. The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. J Med Genet 2010;47:640–642.
31. Krosschell KJ, Maczulski JA, Scott C, et al. Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I. Pediatr Phys Ther 2013;25:140–148; discussion, 9.
32. Glanzman AM, 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.
33. Piper MC, Darrah J. Motor Assessment of the Developing Infant. Philadelphia, PA: Saunders; 1994.
34. Blanchard Y, Neilan E, Busanich J, Garavuso L, Klimas D. Interrater reliability of early intervention providers scoring the Alberta Infant Motor Scale. Pediatr Phys Ther 2004;16:13–18.
35. Iyer CC, Wang X, Renusch SR, et al. SMN blood levels in a porcine model of spinal muscular atrophy. J Neuromuscul Dis 2017;4:59–66.
36. Zaworski P, von Herrmann KM, Taylor S, Sunshine SS, McCarthy K, Risher N, et al. SMN protein can be reliably measured in whole blood with an electrochemiluminescence (ECL) immunoassay: implications for clinical trials. PLoS One 2016;11:e0150640.
37. McCulloch CE, Searle SR. Linear mixed models (LMMs). In: Generalized, Linear, and Mixed Models. New York, NY: John Wiley & Sons, Inc.; 2005:156–186.
38. Arnold WD, Rutkove SB, Simard LR, Kolb SJ. SMA Biomarkers. Sumner CJ, Paushkin S, Ping CP, eds. San Diego, CA: Academic; 2016.
39. Lewelt A, Krosschell KJ, Scott C, et al. Compound muscle action potential and motor function in children with spinal muscular atrophy. Muscle Nerve 2010;42:703–708.
40. 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.
41. Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology 2012;79:1889–1897.
42. Duque SI, Arnold WD, Odermatt P, et al. A large animal model of spinal muscular atrophy and correction of phenotype. Ann Neurol 2015;77:399–414.
43. Arnold W, McGovern VL, Sanchez B, et al. The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy. Neurobiol Dis 2016;87:116–123.