Phenotyping of the thoracic-onset variant of amyotrophic lateral sclerosis


Thoracic-onset amyotrophic lateral sclerosis (T-ALS) is a rare subform, affecting only 3% of all patients with amyotrophic lateral sclerosis (ALS).1 In order to facilitate a better understanding of this variant, we aimed at characterising typical features of T-ALS including clinical presentation, propagation patterns and prognosis.


We performed a retrospective chart analysis of 59 patients with T-ALS derived from a clinical database comprising 3549 patients with ALS from the Department of Neurology at Ulm University Hospital (Ulm, Germany) between 2002 and 2018 including a query for death records in 2020.

Inclusion criteria were diagnosis of probable or definite ALS according to revised El Escorial criteria and weakness of thoracic muscles as first symptom of ALS.

The control group comprising 517 patients with non-thoracic-onset amyotrophic lateral sclerosis (NT-ALS) was derived from the epidemiological database of the ALS Registry Swabia2 between 2010 and 2018, excluding specific variants such as primary…

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