Skip to main content
SpringerLink
Log in

Broadening the clinical spectrum of FUS mutations: a case with monomelic amyotrophy with a late progression to amyotrophic lateral sclerosis

  • Letter to the Editor
  • Published:
Neurological Sciences Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig 1

Data availability

Data are available upon request from interested researchers.

References

  1. Chiò A, Calvo A, Mazzini L, Cantello R, Mora G, Moglia C, Corrado L, D’Alfonso S, Majounie E, Renton A, Pisano F, Ossola I, Brunetti M, Traynor BJ, Restagno G, PARALS (2012) Extensive genetics of ALS: a population-based study in Italy. Neurology 79:1983–1989

    Article  Google Scholar 

  2. Chia R, Chiò A, Traynor BJ (2018) Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications. Lancet Neurol. 17:94–102

    Article  CAS  Google Scholar 

  3. Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noel L, Russaouen O, Bruneteau G, Pradat PF, le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V (2010) SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet. 47:554–560

    Article  CAS  Google Scholar 

  4. van den Berg-Vos RM, Visser J, Franssen H, de Visser M, de Jong JMBV, Kalmijn S, Wokke JHJ, van den Berg LH (2003) Sporadic lower motor neuron disease with adult onset: classification of subtypes. Brain. 126:1036–1047

    Article  Google Scholar 

  5. de Carvalho M, Swash M (2007) Monomelic neurogenic syndromes: a prospective study. J Neurol Sci. 263:26–34

    Article  Google Scholar 

  6. Rowin J, Meriggioli M, Cochran E (2001) Monomelic amyotrophy with late progression. Neuromuscular Disorders. 11:305–308

    Article  CAS  Google Scholar 

  7. Moglia C, Calvo A, Cammarosano S, Ilardi A, Canosa A, Gallo S, Bersano E, Chiò A (2011) Monomelic amyotrophy is not always benign: a case report. Amyotroph Lateral Scler. 12:307–308

    Article  Google Scholar 

  8. Naumann M, Peikert K, Günther R, Kooi AJ, Aronica E, Hübers A, Danel V, Corcia P, Pan-Montojo F, Cirak S, Haliloglu G, Ludolph AC, Goswami A, Andersen PM, Prudlo J, Wegner F, van Damme P, Weishaupt JH, Hermann A (2019) Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis. Ann Clin Transl Neurol 6:2384–2394

    Article  CAS  Google Scholar 

  9. Kim HJ, Oh KW, Kwon MJ, et al. Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing. Neurobiol Aging. 2016; 37:209.e9-209.e16.

  10. Guennoc AM, Heuze-Vourc'h N, Gordon PH et al (2013) Benign lower limb amyotrophy due to TARDBP mutation or post-polio syndrome? Amyotroph Lateral Scler Frontotemporal Degener. 14:476–478

    Article  CAS  Google Scholar 

Download references

Acknowledgments

This work was supported by the Italian Ministry of Health, the European Commission’s Health (FP7), the Italian Ministry of Education, University and Research, Strength and Brain-Mend projects, granted by Italian Ministry of Education, University and Research, performed under the Department of Excellence grant of the Italian Ministry of Education, University and Research to the ‘Rita Levi Montalcini’ Department of Neuroscience, University of Torino.

Author information

Author notes

  1. Cristina Moglia, Andrea Calvo, Adriano Chiò and Maurizio Grassano contributed equally to this work.

Authors and Affiliations

  1. ALS Center, ‘Rita Levi Montalcini’ Department of Neuroscience, University of Turin, Turin, Italy

    Cristina Moglia, Andrea Calvo, Maura Brunetti, Adriano Chiò & Maurizio Grassano

  2. Struttura Complessa Neurologia IU, Azienda Ospedaliero Universitaria Città della Salute e della Scienza of Turin, via Cherasco 15, 10126, Turin, Italy

    Cristina Moglia, Andrea Calvo, Maura Brunetti & Adriano Chiò

  3. Neuroscience Institute of Torino, Turin, Italy

    Adriano Chiò

Authors
  1. Cristina Moglia
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Andrea Calvo
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Maura Brunetti
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Adriano Chiò
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Maurizio Grassano
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

All those listed as authors fulfill the authorship criteria.

Study concept and design: Maurizio Grassano, Andrea Calvo, Adriano Chiò, Cristina Moglia.

Acquisition of data: Maurizio Grassano, Cristina Moglia.

Analysis and interpretation of data: Maura Brunetti, Maurizio Grassano, Andrea Calvo, Adriano Chiò, Cristina Moglia.

Drafting of the manuscript: Maurizio Grassano, Adriano Chiò, Cristina Moglia.

Critical revision of the manuscript for important intellectual content: Maurizio Grassano, Andrea Calvo, Adriano Chiò, Cristina Moglia.

Administrative, technical, and material support: Maura Brunetti, Maurizio Grassano

Study supervision: Maurizio Grassano, Andrea Calvo, Adriano Chiò, Cristina Moglia.

Corresponding author

Correspondence to Cristina Moglia.

Ethics declarations

Conflict of interest

Adriano Chiò serves on scientific advisory boards for Mitsubishi Tanabe, Roche, and Cytokinetics, and has received a research grant from Italfarmaco. Andrea Calvo has received research grant from Cytokinetics. Maurizio Grassano, Maura Brunetti, and Cristina Moglia report no conflicts of interest. The sponsor organizations had no role in data collections and analysis and did not participate to writing and approving the manuscript. The information reported in the manuscript has never been reported elsewhere.

Ethical approval

All procedures involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

A written informed consent was obtained from the patient included in this study.

Consent to participate

Written informed consent was obtained from all individual participants included in the study.

Consent for publication

All authors have given final approval of the version of the manuscript to be submitted. Each author takes public responsibility for appropriate portions of the content and agrees to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Code availability

Not applicable

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Moglia, C., Calvo, A., Brunetti, M. et al. Broadening the clinical spectrum of FUS mutations: a case with monomelic amyotrophy with a late progression to amyotrophic lateral sclerosis. Neurol Sci 42, 1207–1209 (2021). https://doi.org/10.1007/s10072-020-04751-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-020-04751-5

Search

Navigation