An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy

Bakri Elsheikh; Thomas Prior; Xiaoli Zhang; Robert Miller; Stephen J. Kolb; D. A N Moore; Walter Bradley; Richard Barohn; Wilson Bryan; Deborah Gelinas; Susan Iannaccone; Robert Leshner; Jerry R. Mendell; Michelle Mendoza; Barry Russman; Stephen Smith; Wendy King; John T. Kissel

doi:10.1002/mus.21350

An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy

Bakri Elsheikh, Thomas Prior, Xiaoli Zhang, Robert Miller, Stephen J. Kolb, D. A N Moore, Walter Bradley, Richard Barohn, Wilson Bryan, Deborah Gelinas, Susan Iannaccone, Robert Leshner, Jerry R. Mendell, Michelle Mendoza, Barry Russman, Stephen Smith, Wendy King, John T. Kissel

Research output: Contribution to journal › Article › peer-review

74 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	652-656
Number of pages	5
Journal	Muscle and Nerve
Volume	40
Issue number	4
DOIs	https://doi.org/10.1002/mus.21350
State	Published - Oct 2009

Keywords

MVIC
Motor neuron
SMA
SMAFRS
SMN2 copy number

ASJC Scopus subject areas

Physiology
Clinical Neurology
Cellular and Molecular Neuroscience
Physiology (medical)

Access to Document

10.1002/mus.21350

Cite this

Elsheikh, B., Prior, T., Zhang, X., Miller, R., Kolb, S. J., Moore, D. A. N., Bradley, W., Barohn, R., Bryan, W., Gelinas, D., Iannaccone, S., Leshner, R., Mendell, J. R., Mendoza, M., Russman, B., Smith, S., King, W., & Kissel, J. T. (2009). An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy. Muscle and Nerve, 40(4), 652-656. https://doi.org/10.1002/mus.21350

Elsheikh, B, Prior, T, Zhang, X, Miller, R, Kolb, SJ, Moore, DAN, Bradley, W, Barohn, R, Bryan, W, Gelinas, D, Iannaccone, S, Leshner, R, Mendell, JR, Mendoza, M, Russman, B, Smith, S, King, W & Kissel, JT 2009, 'An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy', Muscle and Nerve, vol. 40, no. 4, pp. 652-656. https://doi.org/10.1002/mus.21350

@article{236149de6a7e426b8aa781ca0fe62e03,

title = "An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy",

abstract = "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.",

keywords = "MVIC, Motor neuron, SMA, SMAFRS, SMN2 copy number",

author = "Bakri Elsheikh and Thomas Prior and Xiaoli Zhang and Robert Miller and Kolb, {Stephen J.} and Moore, {D. A N} and Walter Bradley and Richard Barohn and Wilson Bryan and Deborah Gelinas and Susan Iannaccone and Robert Leshner and Mendell, {Jerry R.} and Michelle Mendoza and Barry Russman and Stephen Smith and Wendy King and Kissel, {John T.}",

year = "2009",

month = oct,

doi = "10.1002/mus.21350",

language = "English (US)",

volume = "40",

pages = "652--656",

journal = "Muscle and Nerve",

issn = "0148-639X",

publisher = "John Wiley and Sons Inc.",

number = "4",

}

TY - JOUR

T1 - An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy

AU - Elsheikh, Bakri

AU - Prior, Thomas

AU - Zhang, Xiaoli

AU - Miller, Robert

AU - Kolb, Stephen J.

AU - Moore, D. A N

AU - Bradley, Walter

AU - Barohn, Richard

AU - Bryan, Wilson

AU - Gelinas, Deborah

AU - Iannaccone, Susan

AU - Leshner, Robert

AU - Mendell, Jerry R.

AU - Mendoza, Michelle

AU - Russman, Barry

AU - Smith, Stephen

AU - King, Wendy

AU - Kissel, John T.

PY - 2009/10

Y1 - 2009/10

N2 - 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.

AB - 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.

KW - MVIC

KW - Motor neuron

KW - SMA

KW - SMAFRS

KW - SMN2 copy number

UR - http://www.scopus.com/inward/record.url?scp=70349338716&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=70349338716&partnerID=8YFLogxK

U2 - 10.1002/mus.21350

DO - 10.1002/mus.21350

M3 - Article

C2 - 19760790

AN - SCOPUS:70349338716

SN - 0148-639X

VL - 40

SP - 652

EP - 656

JO - Muscle and Nerve

JF - Muscle and Nerve

IS - 4

ER -

An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this