Cause of death and clinical grading criteria in a cohort of amyotrophic lateral sclerosis cases undergoing autopsy from the Scottish Motor Neurone Disease Register

Background: The Scottish Motor Neurone Disease Register is a population based register of amyotrophic lateral sclerosis/motor neurone disease (ALS/MND) in Scotland, with high case ascertainment levels. Objective: To investigate the cause of death by autopsy and assess grading criteria in a cohort of cases of ALS from the Scottish MND Register. Methods: The records of 44 patients undergoing autopsy were reviewed to determine the cause of death, clinical assessment (El Escorial and modified World Federation of Neurology criteria) during life and neuropathological autopsy findings. Results: In a cohort of 44 cases undergoing autopsy between 1989 and 1998, the cause of death could be directly or indirectly (bronchopneumonia, aspiration/pneumonia and respiratory failure) attributed to MND in 32/44 (73%) cases. The clinical diagnosis of MND was confirmed at autopsy in 44/44 (100%) cases, 3/44 (7%) cases showed coexistent neurodegenerative disease and 5/44 (11%) were familial MND cases. Conclusions: Within our cohort, MND contributes to death in the majority of cases and there is excellent clinicopathological correlation, irrespective of the clinical grading criteria used. However, the autopsy rate is low (4%) and further larger studies are required to identify heterogeneity within the disease.