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Family history of neurodegenerative disorders in patients with amyotrophic lateral sclerosis: population-based case–control study
  1. Catarina Falcão Campos1,2,
  2. Marta Gromicho1,
  3. Hilmi Uysal3,
  4. Julian Grosskreutz4,
  5. Magdalena Kuzma-Kozakiewicz55,
  6. Susana Pinto1,
  7. Susanne Petri6,
  8. Mamede de Carvalho1,2
  1. 1 Institute of Physiology, Instituto de Medicina Molecular, Faculdade de Medicine, Universidade de Lisboa, Lisboa, Portugal
  2. 2 Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa-Norte, Lisboa, Portugal
  3. 3 Department of Neurology and Clinical Neurophysiology, Akdeniz University Faculty of Medicine, Antalya, Turkey
  4. 4 Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany
  5. 5 Neurodegenerative Disease Research Group and Neurodegenerative Disease Research Group, Medical University of Warsaw, Warsaw, Poland
  6. 6 Department of Neurology, Hannover Medical School, Hannover, Germany
  1. Correspondence to Dr Catarina Falcão Campos, Department of Neurosciences, Hospital de Santa Maria, Hospital de Santa Maria, 1648-028 Lisbon, Portugal; catarinahfcampos{at}gmail.com

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Introduction

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive loss of motor neurons in the brain and spinal cord, leading to muscle weakness and death due to respiratory failure.1 Although most cases of ALS are sporadic, up to 10% of patients have a positive family history of ALS, usually associated with causative gene mutations.2 Latest evidence has shown that ALS is a complex multisystem disorder with extramotor involvement, namely, cognitive deficit and extrapyramidal dysfunction, expanding the clinical spectrum of the disease. Cognitive impairment is present in up to 50% of patients with ALS with different degrees of severity, and 15% of patients have a concomitant diagnosis of frontotemporal dementia (FTD).1 In fact, the clinical imaging and pathological and genetic overlap between ALS and FTD have led to the definition of an ALS/FTD continuum.1 Thus, one may speculate that a positive family history of neurodegenerative disorders (NDs) can be associated with ALS development. In this prospective case–control study, we aimed to describe the family aggregation of ND within the group of patients with ALS and to estimate the risk of ALS development in patients with a positive ND family history.

Materials and methods

Study population

We included 496 adult Portuguese patients with ALS followed up from January 2015 to January 2018 in our ALS clinic in Lisbon. Patients with definite, probable laboratory-supported and …

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Footnotes

  • CFC and MG contributed equally.

  • Contributors CFC: data analysis, study design, interpretation of data and drafting manuscript; MG: database management, interpretation of data and study supervision; HU, JG, MK-K, SPi and SPe: interpretation of data, critical revision and drafting manuscript; MdC: study concept, acquisition of data, study supervision and critical revision.

  • 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 (www.jpnd.eu).

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Ethics approval The project was approved by the Ethics Commission. All patients and controls signed a written informed consent.

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

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