Motor neuron degeneration correlates with respiratory dysfunction in SCA1.

ABSTRACT: Spinocerebellar ataxia type 1 (SCA1) is characterized by adult-onset cerebellar degeneration with attendant loss of motor coordination. Bulbar function is eventually impaired and patients typically die from an inability to clear the airway. We investigated whether motor neuron degeneration is at the root of bulbar dysfunction by studying SCA1 knock-in (Atxn1154Q/+ ) mice. Spinal cord and brainstem motor neurons were assessed in Atxn1154Q/+ mice at 1, 3 and 6 months of age. Specifically, we assessed breathing physiology, diaphragm histology and electromyography, and motor neuron histology and immunohistochemistry. Atxn1154Q/+ mice show progressive neuromuscular respiratory abnormalities, neurogenic changes in the diaphragm, and motor neuron degeneration in the spinal cord and brainstem. Mot

SUBMITTER: Orengo JP 

PROVIDER: S-EPMC5894948 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature