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Background <p>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.</p> Objectives <p>To characterise the demographic, clinical, and genetic landscape of pwALS in Austria.</p> Methods <p>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 <i>Statistik Austria</i>, censored in December 2023.</p> Results <p>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 (<i>n</i> = 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&#xa0;months (IQR 20.0–74.0), with age at onset (HR 1.04, 95% CI 1.02–1.05; <i>p</i> &lt; 0.0001), diagnostic delay (HR 0.97, 95% CI 0.96–0.98; <i>p</i> &lt; 0.0001), and PEG tube placement (HR 0.72, 95% CI 0.50–1.00; <i>p</i> = 0.0478) as the only independent predictors of survival. (Likely) pathogenic variants were identified in 5.5% of patients, including two in <i>SOD1</i> and one each in <i>C9orf72, OPTN</i>, <i>TARDBP,</i> and <i>FUS</i>.</p> Conclusions <p>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.</p>

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

  • 期刊论文

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  • 发表日期：

    2026年1月10日

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  • Omar Keritam,
  • Vera Elisabeth Kleinveld,
  • Sigrid Klotz,
  • Haluk Caliskan,
  • Marita Mayerhofer,
  • Merve Sener,
  • Fiona Jäger,
  • Rosa Weng,
  • Daniel Bormann,
  • Isabel Pugna,
  • Johannes Gebert,
  • Ivan Fedak,
  • Andreas Renner,
  • Lukasz Antoniewicz,
  • Jakob Rath,
  • Gudrun Zulehner,
  • Martin Krenn,
  • Fritz Zimprich,
  • Wolfgang N. Löscher,
  • Hakan Cetin

摘要

Background

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.

Objectives

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

Methods

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.

Results

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.

Conclusions

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.