학술논문
Natural history of infantile-onset spinal muscular atrophy.
Document Type
article
Author
Kolb, Stephen; Coffey, Christopher; Yankey, Jon; Krosschell, Kristin; Arnold, W; Rutkove, Seward; Swoboda, Kathryn; Reyna, Sandra; Sakonju, Ai; Darras, Basil; Shell, Richard; Kuntz, Nancy; Castro, Diana; Parsons, Julie; Connolly, Anne; Chiriboga, Claudia; Burnette, W; Werner, Klaus; Thangarajh, Mathula; Shieh, Perry; Finanger, Erika; Cudkowicz, Merit; McGovern, Michelle; McNeil, D; Finkel, Richard; Iannaccone, Susan; Kaye, Edward; Kingsley, Allison; Renusch, Samantha; McGovern, Vicki; Wang, Xueqian; Zaworski, Phillip; Prior, Thomas; Burghes, Arthur; Bartlett, Amy; Kissel, John; McDonald, Craig
Source
Annals of Neurology. 82(6)
Subject
Language
Abstract
OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death preceding age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multicenter, prospective natural history study enrolled 26 SMA infants and 27 control infants aged