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Phenotyping of the thoracic-onset variant of amyotrophic lateral sclerosis
  1. Katharina Kandler1,
  2. Simon Witzel1,
  3. Konstantin Eder1,
  4. Dietrich Rothenbacher2,
  5. Gabriele Nagel2,
  6. Raphael S Peter2,
  7. Joachim Schuster1,
  8. Johannes Dorst1,
  9. Angela Rosenbohm1,
  10. Albert C Ludolph1
  11. the ALS Registry Study Group
    1. 1Department of Neurology, University of Ulm, Ulm, Germany
    2. 2Institute of Epidemiology and Medical Biometry, University of Ulm, Ulm, Germany
    1. Correspondence to Professor Albert C Ludolph, Department of Neurology, University of Ulm, Ulm, Germany; albert.ludolph{at}rku.de

    https://doi.org/10.1136/jnnp-2021-326712

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      Introduction

      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.

      Methods

      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 lateral sclerosis, progressive muscle atrophy and flail-arm/flail-leg syndrome, as well as familial/genetic forms.

      We compared both cohorts with regard to clinical parameters including sex, age at disease onset, diagnostic delay, survival (time from onset of symptoms to death), body weight, use of non-invasive ventilation (NIV) and invasive ventilation (IV), and spreading patterns. Disease onset was defined as occurrence of first paresis.

      For description of clinical parameters, absolute and relative frequencies or median and IQR were used as appropriate.

      Comparison of categorical variables was done Pearson’s χ2 test. For continuous parameters, the Mann-Whitney U test was used. Survival was analysed using the Kaplan-Meier method and log-rank test.

      All statistical tests were performed at a two-sided significance level of alpha=0.05. Statistical analysis was done with SPSS V.25.0.

      Results

      Out of 3549 patients with ALS treated at the Department of Neurology at Ulm University Hospital (Ulm, Germany) between 2002 and 2018, 59 (1.7%) had …

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      Footnotes

      • Collaborators Members of the ALS Registry study group: Dr Andres F (Kreiskliniken Reutlingen, Department of Neurology); Dr Arnold G (Klinikum Sindelfingen-Böblingen, Department of Neurology); Dr Baier H (ZFP Südwürttemberg, Department of Epileptology); Professor Dr Bäzner H (Katharinenhospital Stuttgart, Department of Neurology); Dr Beattie J (Ostalb-Klinikum Aalen, Department of Neurology); Dr Behne F (ZFP Südwüttemberg, Department of Epileptology); Professor Dr Bengel D (Oberschwabenklinik Ravensburg, Department of Neurology); Dr Börtlein A (Katharinenhospital Stuttgart, Department of Neurology); Dr Bracknies V (Fachklinik für Neurologie Dietenbronn, Department of Neurology); Dr Burkhard A (Klinikum Günzburg, Department of Neurology); PD Dr Buttmann M (Caritas Krankenhaus, Bad Mergentheim, Department of Neurology); Dr Dempewolf S (RKH Ludwigsburg, Department of Neurology); Professor Dr Dettmers C (Schmieder Kliniken Konstanz); Professor Dr Freund W (Praxis Biberach); Professor Dr Gasser T (Universitätsklinikum Tübingen, Department of Neurology); Dr Gold H.-J (Klinikum am Gesundbrunnen Heilbronn, Department of Neurology); Professor Dr Hamann G (Klinikum Günzburg, Department of Neurology); PD Dr Hecht M (Bezirkskrankenhaus Kaufbeuren, Department of Neurology); Dr Heimbach B (Universitätsklinikum Freiburg, Department of Neurology); PD Dr Herting B (Diakonie-Klinikum Schwäbisch Hall, Department of Neurology); Professor Dr Huber R (Klinikum Friedrichshafen, Department of Neurology); Professor Dr Huelser P.-J (Fachklinik Wangen, Department of Neurology); Dr Huber-Hartmann K (Kliniken Landkreis Heidenheim, Department of Neurology); PD Dr Jüttler E (Ostalb-Klinikum Aalen, Department of Neurology); Dr Kaspar A (Oberschwabenklinik Ravensburg, Department of Neurology); Professor DrKern (Klinikum Kempten, Department of Neurology); Professor Dr Kimmig H (Kliniken Schwenningen, Department of Neurology); Professor Dr Chatzikonstantinou A (Schmieder Kliniken Allensbach); Professor Dr Klötzsch C (Hegau-Bodensee-Klinikum Singen, Department of Neurology); Professpr Dr Klopstock T (LMU München, Department of Neurology); DrKohler A (Klinikum am Gesundbrunnen Heilbronn, Department of Neurology); PD Dr Lichy C (Klinikum Memmingen, Department of Neurology); Professor Dr Lindner A (Marienhospital Stuttgart, Department of Neurology); Professor Dr Lingor P (TU München, Department of Neurology); Professor Dr Dorothee Lulé (Ulm University, Department of Neurology); Dr Metrikat J (Bundeswehrkrankenhaus Ulm, Department of Neurology); Dr Meudt O (Klinikum Memmingen, Department of Neurology); Dr Meyer A (Weissenau, Department of Neurology); Dr Nägele A (Christophsbad Göppingen, Department of Neurology); Professor Dr Naumann M (Klinikum Augsburg, Department of Neurology and Neurophysiology); Dr Neher K.-D (Vinzenz von Paul Hospital, Rottweil, Department of Neurology); PD Dr Neuhaus O (Kliniken Landkreis Sigmaringen, Department of Neurology); Professor Dr Neusch C (Praxis EMSA Singen); Professor Dr Niehaus L (Winnenden, Department of Neurology); Dr Raape J (ZFP Südwürttemberg Weissenau, Department of Neurology); Dr Ratzka P (Klinikum Augsburg, Department of Neurology and Neurophysiology); Professor Dr Reinhard M (Kliniken Esslingen, Department of Neurology); Dr Rothmeier J (ZFP Südwürttemberg Weissenau, Department of Neurology); PD Dr Sabolek M (Biberach, Department of Neurology); Professor Schabet M, Ludwigsburg (Department of Neurology); Dr Schaeff-Vogelsang M (Diakonie-Klinikum Schwäbisch Hall, Department of Neurology); Dr Schell C (Kreiskliniken Reutlingen, Department of Neurology); Dr Schütz K (Kliniken Schwenningen, Department of Neurology); Dr Schweigert B (Caritas Krankenhaus, Bad Mergentheim, Department of Neurology); Professor Dr Sommer N (Christophsbad Göppingen, Department of Neurology); Professor Stroick M (Klinikum Memmingen, Department of Neurology); Professor Dr Synofzik M (Universitätsklinikum Tübingen, Department of Neurology); Dr Trottenberg T (Winnenden, Department of Neurology); Professor Dr Tumani H (Department of Neurology, Dietenbronn); Professor Dr Volkmann J (University of Würzburg, Department of Neurology); Dr Weiler M (University of Heidelberg, Department of Neurology); Professor Dr Wick, W (University of Heidelberg, Department of Neurology); Professor Dr Opherk C (Klinikum am Gesundbrunnen Heilbronn, Department of Neurology); Professor Dr Hemmer B (TU München, Department of Neurology); Professor Dr Weiller C (Universitätsklinikum Freiburg, Department of Neurology); Priv.-Doz. Dr Zeller D (University of Würzburg, Department of Neurology); Dr Baumgärtner J (BKH Augsburg, Department of Psychiatry); Dr Born Ch (Schwäbisch Hall & PMU Nürnberg, Department of Psychiatry); Professor Dr Dr Bürgy M (Klinikum Stuttgart, Department of Psychiatry); Professor Dr. Connemann B (Universitätsklinik Ulm, Department of Psychiatry III); Univ.-Professor Dr Etzersdorfer E (Furtenbachkrankenhaus Stuttgart, Department of Psychiatry); Dr Friederich H (ZfP Zwiefalten, Departmement of Gerontopsychiatry); Professor Dr Gahr M (Universitätsklinikum Ulm, Department of Psychiatry III Dr Gogolkiewicz A (ZFP Zwiefalten, Departement of Psychiatry); Dr Greber R (Vinzenz v. Paul Hospital Rottweil, Department of Gerontopsychiatry); Gebhardt J (ZFP Wiesloch, Department of Gerontopsychiatry); PD Dr Grunze H (Schwäbisch Hall & PMU Nürnberg, Department of Psychiatry); Dr Henkel K (Christophsbad Göppingen, Department of Gerontopsychiatry); Professor Dr Hewer W (Christophsbad Göppingen, Department of Gerontopsychiatry); RaethercA., Schloss Winnenden (Department of Gerontopsychiatry); Professor Dr Joos A (Kliniken Schmieder Gailingen, Department of Psychotherapeutic Neurology); Dr Köhler M (ZFP Zwiefalten, Department of Gerontopsychiatry); Dr Kozian R (Vinzenz v. Paul Hospital Rottweil, Department of Gerontopsychiatry); Professor Dr Laske C (Uniklinik Tübingen, Department of Gerontopsychiatry); Dr Michaelides A (Furtenbachkrankenhaus Stuttgart, Department of Psychiatry); PD Dr Munk M (Uniklinik Tübingen, Department of Gerontopsychiatry); Niestroj A (ZFP Wiesloch, Department of Gerontopsychiatry); Professor Dr Ruchsow M (Christophsbad Göppingen, Department of Psychiatry); Professor Dr Schmauss M (BKH Augsburg, Department of Psychiatry); Dr Schöneberger-Stroick K (BKH Memmingen, Department of Psychiatry); Dr Schörner K (Kliniken Schmieder Gailingen, Department of Psychotherapeutic Neurology); Sheka C (Klinikum Schloss Winnenden, Department of Gerontopsychiatry); Dr Spannhorst S (Klinikum Stuttgart, Department of Mental Health and Geriatry); Steber R (BKH Memmingen, Department of Psychiatry); PD Dr Thomas C (Klinikum Stuttgart, Department of Mental Health and Geriatry); Professor Dr Vasic N (Christiophsbad Göppingen, Department of Psychiatry).

      • Contributors KK, SW, JD, AR and ACL drafted the manuscript and figures with input from DR, GN, RP and JS. KK, SW, JD and AR performed statistical analysis. KE, AR, DR, GN and RSP contributed to the acquisition and analysis of data. All authors critically revised, read and approved the final manuscript. For information about the study group members and affiliations, see the supplementary material.

      • Funding The ALS registry Swabia was supported by the German Research Council (DFG, main number 577 631).

      • Competing interests None declared.

      • Provenance and peer review Not commissioned; externally peer reviewed.

      • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.