Marked widespread atrophy of the cerebral cortex and brainstem in sporadic amyotrophic lateral sclerosis in a totally locked-in state

Description

A man aged 42 years presented with progressive muscle weakness and fasciculation in his legs. He was diagnosed with sporadic amyotrophic lateral sclerosis (ALS) based on clinical and electrophysiological upper and lower motor neuron dysfunction. He presented no obvious cognitive or behavioural impairment indicative of frontotemporal dementia (FTD), although detailed cognitive tests were not performed. When he was 43 years old, he presented with tetraplegia and respiratory failure without extraocular muscle impairment and received a tracheostomy with invasive ventilation (TIV). His first brain MRI at age 43 years showed signs of upper motor neuronal degeneration and global discrete cortical atrophy (figure 1). During the ensuing years, he communicated with others using extraocular movements and did not exhibit any symptoms of obvious dementia. When he was 46 years old, his extraocular muscles became non-functional. He lost his voluntary motor function and communication ability entirely, falling into the so-called 'totally...

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