CLINICAL AND GENETIC ANALYSIS OF SPINAL MUSCULAR ATROPHY

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Spinal muscular atrophy (SMA) is an autosomal recessive neurologic disorder resulting in progressive weakness and often, premature death. It is a leading genetic cause of death in children less than age two years. We propose to use a novel technique, motor unit number estimation, along with assessment of functional motor status, survival motor neuron (SMN) gene copy number and other genetic modifiers, SMN protein levels and mRNA levels in white blood cells to better understand the underlying pathophysiology of motor neuron denervation in this disorder. This study utilizes the GCRC outpatient clinic, the General Clinical Research Center inpatient unit, the core laboratories and the pediatric neurology clinic at the Primary Children's Medical Center, connected to the University Hospital by a bridge.