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Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin

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Abstract

Background

To review how the phenotype and outcome of amyotrophic lateral sclerosis (ALS) change with variations in population ancestral origin (PAO). Knowledge of how PAO modifies ALS phenotype may provide important insight into the risk factors and pathogenic mechanisms of the disease.

Methods

We performed a systematic review and meta-analysis of the literature concerning differences in phenotype and outcome of ALS that relate to PAO.

Results

A review of 3111 records identified 78 population-based studies. The 40 that were included covered 40 geographical areas in 10 subcontinents. Around 12,700 ALS cases were considered. The results highlight the phenotypic heterogeneity of ALS at time of onset [age, sex ratio (SR), bulbar onset], age at diagnosis, occurrence of comorbidities in the first year after diagnosis, and outcome (survival). Subcontinent is a major explanatory factor for the variability of the ALS phenotype in population-based studies. Some markers of ALS phenotype were homogeneously distributed in western countries (SR, mean age at onset/diagnosis) but their distributions in other subcontinents were remarkably different. Other markers presented variations in European subcontinents (familial ALS, bulbar onset) and in other continents. As a consequence, ALS outcome strongly varied, with a median survival time from onset ranging from 24 months (Northern Europe) to 48 months (Central Asia).

Discussion

This review sets the scene for a collaborative study involving a wide international consortium to investigate, using a standard methodology, the link between ancestry, environment, and ALS phenotype.

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Acknowledgments

We thank the following main authors or co-authors of population-based articles who responded to our request and provided useful material for incidence standardization or phenotype characterization: Kari Murros, Poul Joensen, Raeburn Forbes, Robert Swingler, Ibrahim Imam, James Rooney, Marwa Elamin, Orla Hardiman, Mark Huisman, Joachim Wolf, Gabriele Nagel, Albert Ludolph, Adriano Chio, Federica Pisa, Jessica Mandrioli, Monica Bandettini, Stefano Zocollela, Maura Pugliatti, Leslie Parish, Paolo Ragonese, Will Longstreth, Valerie Mc Guire, Eric J Sorenson, Farrah Mateen, James D Bonaparte, Cristina Vazquez, Carlos Ketzoian, Kurupath Radhakrishnan, Chien-Hsu Lai, Fong, Hitoshi Okumura, Tameko Kihira, Bruce Taylor. We also thank Walter Rocca and Brandon R Grossardt for detailed data from the Olmsted county population; and Hidenao Sasaki, Robert Miller, and Eric Denys for contact assistance. We thank Vanna Pistotti for her advice during the literature search, and Mineko Terao, Lorenzo Moja and Claudio Pelucchi for their help with the manuscript. We thank William Francis who edited the English. We thank the Limoges teaching hospital for a grant to support the first author’s mobility.

Funding

This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.

Author contribution

BM, EB, GL, PC, PMP wrote the aim and study protocol. BM and EB collected data. BM, FB, AL conducted statistical analysis. BM wrote the first draft. All authors reviewed the first draft. All authors contributed substantially to the content of this manuscript.

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Authors and Affiliations

  1. INSERM, U1094, Neuroépidémiologie Tropicale, 87000, Limoges, France

    Benoît Marin, Farid Boumédiene, Anaïs Labrunie, Philippe Couratier & Pierre Marie Preux

  2. Univ. Limoges, UMR_S 1094, Neuroépidémiologie Tropicale, Institut d’Epidémiologie Neurologique et de Neurologie Tropicale, CNRS FR 3503 GEIST, 87000, Limoges, France

    Benoît Marin, Farid Boumédiene, Philippe Couratier & Pierre Marie Preux

  3. CHU Limoges, Centre d’Epidémiologie, de Biostatistique et de Méthodologie de la Recherche, 87000, Limoges, France

    Benoît Marin, Farid Boumédiene, Anaïs Labrunie & Pierre Marie Preux

  4. Laboratorio di Malattie Neurologiche, Dipartimento di Neuroscienze, IRCCS Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy

    Benoît Marin & Ettore Beghi

  5. Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari “Aldo Moro”, Bari, Italy

    Benoît Marin & Giancarlo Logroscino

  6. Unit of Neurodegenerative Diseases, Department of Clinical Research in Neurology, University of Bari “Aldo Moro”, at “Pia Fondazione Cardinale G. Panico”, Tricase, Lecce, Italy

    Benoît Marin & Giancarlo Logroscino

  7. Service de Neurologie, Centre Expert SLA, CHU Limoges, Limoges, France

    Philippe Couratier

  8. Genetic Variability and Human Diseases, UMR 946, INSERM, Paris, France

    Marie-Claude Babron & Anne Louise Leutenegger

  9. UMR 946, Univ Paris Diderot, Paris, France

    Marie-Claude Babron & Anne Louise Leutenegger

Authors
  1. Benoît Marin
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  2. Giancarlo Logroscino
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  3. Farid Boumédiene
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  4. Anaïs Labrunie
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  5. Philippe Couratier
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  6. Marie-Claude Babron
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  7. Anne Louise Leutenegger
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  8. Pierre Marie Preux
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  9. Ettore Beghi
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Corresponding author

Correspondence to Ettore Beghi.

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Conflicts of interest

B Marin and F Boumediene: None declared. G. Logroscino: Dr. Logroscino received personal compensation for educational talks from Novartis, Glaxo and Boerhinger; he is a member of the jury of the “Cohorts” project in biomedicine of the French National Research Agency. Dr Logroscino is neurological editor of nutrition reviews by Karger. F Boumediene: None declared. A Labrunie: None declared. MC Babron: None declared. A Leutenegger: None declared. PM Preux: None declared. Dr E. Beghi received personal compensation from GSK and UCB-Pharma for speaking at an epilepsy congress, and from Viropharma for being part of a steering committee. Dr Beghi received personal compensation from Epilepsia as Associate Editor. Dr Beghi received research support from UCB-Pharma for studies in epilepsy and Parkinson’s disease, and from GSK for studies in epilepsy.

Ethics

As this review of the literature/meta-analysis does not involve ALS patients but makes use of publications concerning ALS, informed consent of patients is not applicable. Not even approval of an ethics committee is applicable.

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Marin, B., Logroscino, G., Boumédiene, F. et al. Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin. Eur J Epidemiol 31, 229–245 (2016). https://doi.org/10.1007/s10654-015-0090-x

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  • DOI: https://doi.org/10.1007/s10654-015-0090-x

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