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Peripheral neuropathy in ALS: phenotype association
  1. Mamede deCarvalho1,
  2. Marta Gromicho2,
  3. Peter Andersen3,
  4. Julian Grosskreutz4,
  5. Magdalena Kuzma-Kozakiewicz5,
  6. Susanne Petri6,
  7. Hilmi Uysal7,
  8. Susana Pinto1
  1. 1 Faculdade de Medicina-Instituto de Medicina Molecular, Universidade de Lisboa. Centro Hospitalar Universitário Lisboa Norte, Lisboa, Portugal
  2. 2 Instituto de Medicina Molecular, Universidade de Lisboa, Lisboa, Portugal
  3. 3 Department of Pharmacology and Clinical Neuroscience, Umea Universitet, Umea, Sweden
  4. 4 Department of Neurology, Friedrich-Schiller-Universitat Jena, Jena, Thüringen, Germany
  5. 5 Department of Neurology, Medical University of Warsaw, Warszawa, Poland
  6. 6 Department of Neurology, Medizinische Hochschule Hannover, Hannover, Niedersachsen, Germany
  7. 7 Department of Neurology. Faculty of Medicine, Akdeniz University, Antalya, Turkey
  1. Correspondence to Professor Mamede deCarvalho, Faculdade de Medicina-Instituto de Medicina Molecular, Universidade de Lisboa, Lisboa 1649-028, Portugal; mamedemg{at}

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Amyotrophic lateral sclerosis (ALS) is a rare and progressive neurodegenerative disease mainly affecting upper and lower motor neurons but also causing multisystem involvement, in particular, associated with cognitive changes. Minor sensory fibre dysfunction has been described in the past1 and confirmed in recent studies.2 In a multicentre study investigating a population of 88 patients with ALS, the ESTEEM group (a European Telematic Project for quality assurance within Clinical Neurophysiology) reported sensory polyneuropathy (PNP) in 12.5% of the patients, not influenced by age, disease duration and onset region.

In this study, we aimed to readdress prevalence of and risk factors for PNP in a larger population of patients with ALS. A large number of variables, including gene mutations, were assessed.


We prospectively followed up patients with ALS in Lisbon (January 2015–January 2018) consecutively enrolled into the OnWebDuals register3 to test the influence of clinical features and genotype on PNP prevalence. We included patients older than 18, with possible, probable or definite ALS according to the revised El Escorial criteria, and in line with the Awaji electrophysiological guidelines. Patients with known PNP, marked lower limb oedema, monoclonal gammopathy and those with incomplete neurophysiological examination were excluded. Age, gender, onset region, disease duration, weight loss before diagnosis (>10%), history of diabetes or cancer, previous chemotherapy or contact with neurotoxic agents, as well as SOD1 and …

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  • Contributors MdC designed the study methods and wrote the first draft of the manuscript. SPi and MG contributed to the data analysis. PA did some genetic tests. SPi, MK-K, JG, SPe and HU contributed to the discussion and reviewed and modified the manuscript.

  • Funding This is an EU Joint Programme - Neurodegenerative Disease Research (JPND) project. The project is supported through national funding organisations under the aegis of JPND (

  • Competing interests None declared.

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