An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy.
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.
Elsheikh
Bakri
B
Department of Neurology, Ohio State University, 421 Means Hall, 1654 Upham Drive, Columbus, Ohio 43210, USA. bakri.elsheikh@osumc.edu
Prior
Thomas
T
Zhang
Xiaoli
X
Miller
Robert
R
Kolb
Stephen J
SJ
Moore
Dan
D
Bradley
Walter
W
Barohn
Richard
R
Bryan
Wilson
W
Gelinas
Deborah
D
Iannaccone
Susan
S
Leshner
Robert
R
Mendell
Jerry R
JR
Mendoza
Michelle
M
Russman
Barry
B
Smith
Stephen
S
King
Wendy
W
Kissel
John T
JT
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
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