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.
authors.affiliation: Department of Neurology, Ohio State University, 421 Means Hall, 1654 Upham Drive, Columbus, Ohio 43210, USA. bakri.elsheikh@osumc.edu
authors.forename: Bakri
authors.initials: B
authors.lastname: Elsheikh
authors.forename: Thomas
authors.initials: T
authors.lastname: Prior
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Zhang
authors.forename: Robert
authors.initials: R
authors.lastname: Miller
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Kolb
authors.forename: Dan
authors.initials: D
authors.lastname: Moore
authors.forename: Walter
authors.initials: W
authors.lastname: Bradley
authors.forename: Richard
authors.initials: R
authors.lastname: Barohn
authors.forename: Wilson
authors.initials: W
authors.lastname: Bryan
authors.forename: Deborah
authors.initials: D
authors.lastname: Gelinas
authors.forename: Susan
authors.initials: S
authors.lastname: Iannaccone
authors.forename: Robert
authors.initials: R
authors.lastname: Leshner
authors.forename: Jerry R
authors.initials: JR
authors.lastname: Mendell
authors.forename: Michelle
authors.initials: M
authors.lastname: Mendoza
authors.forename: Barry
authors.initials: B
authors.lastname: Russman
authors.forename: Stephen
authors.initials: S
authors.lastname: Smith
authors.forename: Wendy
authors.initials: W
authors.lastname: King
authors.forename: John T
authors.initials: JT
authors.lastname: Kissel
mesh_terms: D000203:Activities of Daily Living; D000328:Adult; D000588:Amines / Q000627:therapeutic use; D015331:Cohort Studies; D003509:Cyclohexanecarboxylic Acids / Q000627:therapeutic use; D004185:Disability Evaluation; D018691:Excitatory Amino Acid Antagonists / Q000627:therapeutic use; D005260:Female; D000077206:Gabapentin; D018628:Gene Dosage; D006801:Humans; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength / Q000502:physiology; D009134:Muscular Atrophy, Spinal / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype; D012129:Respiratory Function Tests; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics; D005680:gamma-Aminobutyric Acid / Q000627:therapeutic use
chemical_list: D000588:Amines; D003509:Cyclohexanecarboxylic Acids; D018691:Excitatory Amino Acid Antagonists; C526477:SMN2 protein, human; D055540:Survival of Motor Neuron 2 Protein; D005680:gamma-Aminobutyric Acid; D000077206:Gabapentin