# Demographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria

## TL;DR

This study describes the demographic, clinical, and genetic features of ALS patients in Austria, highlighting disease onset patterns and survival factors.

## Contribution

The first comprehensive real-world data on ALS characteristics in Austria, including genetic variants and survival predictors.

## Key findings

- Spinal onset was most common (67.2%) among ALS patients in Austria.
- Median survival from symptom onset was 36 months, with age at onset and diagnostic delay as key survival predictors.
- Pathogenic genetic variants were found in 5.5% of patients, including mutations in SOD1, C9orf72, and other genes.

## Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterised by progressive muscle weakness and ultimately death from respiratory failure. Heterogeneity in disease trajectories and outcomes among patients with ALS (pwALS) is influenced by healthcare access, rehabilitation, and palliative care, but real-world data on demographic and clinical characteristics remain scarce in many countries, including Austria.

To characterise the demographic, clinical, and genetic landscape of pwALS in Austria.

In this retrospective cohort study, we included pwALS diagnosed according to the Gold Coast criteria and treated at two large tertiary referral centres. Demographic, clinical, and genetic data were extracted from the local ALS registries, and survival was determined via linkage with Statistik Austria, censored in December 2023.

A total of 341 patients with motor neuron disease were included (44.9% female), of whom 5% were diagnosed with primary lateral sclerosis and 2.9% with progressive muscular atrophy. Among pwALS (n = 314), spinal onset was most common (67.2%), followed by bulbar onset (29.6%) and respiratory onset (2.5%). Median survival from symptom onset was 36.0 months (IQR 20.0–74.0), with age at onset (HR 1.04, 95% CI 1.02–1.05; p < 0.0001), diagnostic delay (HR 0.97, 95% CI 0.96–0.98; p < 0.0001), and PEG tube placement (HR 0.72, 95% CI 0.50–1.00; p = 0.0478) as the only independent predictors of survival. (Likely) pathogenic variants were identified in 5.5% of patients, including two in SOD1 and one each in C9orf72, OPTN, TARDBP, and FUS.

This study provides the first comprehensive description of the demographic, clinical, and genetic characteristics of pwALS in Austria, offering valuable real-world insight into disease presentation and genetic diversity.

The online version contains supplementary material available at 10.1007/s00415-025-13614-y.