查看文章

Primary lateral sclerosis is a rare neurodegenerative disorder of the upper motor neurons. Diagnostic criteria have changed considerably over the years, and the recent consensus criteria introduced ‘probable PLS’ for patients with a symptom duration of 2–4 years. The objective of this study is the systematic evaluation of clinical and neuroimaging characteristics in early PLS by studying a group of ‘probable PLS patients’ in comparison to a cohort of established PLS patients.

In a prospective neuroimaging study, thirty-nine patients were stratified by the new consensus criteria into ‘probable’ (symptom duration 2–4 years) or ‘definite’ PLS (symptom duration >4 years). Patients were evaluated with a standardised battery of clinical instruments (ALSFRS-r, Penn upper motor neuron score, the modified Ashworth spasticity scale), whole genome sequencing, and underwent structural and diffusion MRI …