Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)

Abstract

Background: Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare early onset neurodegenerative disease that typically results in ataxia, upper motor neuron dysfunction and sensorimotor peripheral neuropathy. Dysarthria and dysphagia are anecdotally described as key features of ARSACS but the nature, severity and impact of these deficits in ARSACS are not known. A comprehensive quantitative and qualitative characterization of speech and swallowing function will support diagnostics, provide insights into the underlying pathology, and guide day-to-day clinical management. Methods: 11 consecutive non-Quebec ARSACS patients were recruited, and compared to healthy participa..