P Nigel Leigh

We thank Yutaka Shimazu for his insightful comments. We agree that our positive findings1–4 highlight the urgent need for further work on biomarkers of neuronal damage and immune mechanisms in amyotrophic lateral sclerosis (ALS). The results published in our Article were limited to prespecified analyses.4 Nevertheless, the positive outcome of the MIROCALS trial justifies further exploration of the link between clinical response, neuronal damage, and immune modulation.

Introduction Amyotrophic lateral sclerosis (ALS) is a rare disease of the voluntary motor system, associated with loss of motor neurons in the brain and spinal cord, leading to relentlessly progressive disability and death, with a median survival of 2–3 years from symptom onset.1 While riluzole2,3 has a modest effect on survival, there is still a pressing need for more effective disease-modifying treatments.

AbstractWe discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of the arms. MR scan of the brain showed isolated cerebellar atrophy and formal neuropsychometric testing identified significant subclinical deficits in attention, processing speed and memory.