Volume 59, Issue 3 pp. 354-357
Clinical Research Short Report

Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy

Kristin Samuelsson PhD, MD

Corresponding Author

Kristin Samuelsson PhD, MD

Department of Clinical Neuroscience, Karolinska Institute, R54, Huddinge, 141 86 Stockholm, Sweden

Correspondence to: K. Samuelsson; e-mail: [email protected]Search for more papers by this author
Ana Radovic MD

Ana Radovic MD

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden

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Rayomand Press PhD, MD

Rayomand Press PhD, MD

Department of Clinical Neuroscience, Karolinska Institute, R54, Huddinge, 141 86 Stockholm, Sweden

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Mari Auranen PhD, MD

Mari Auranen PhD, MD

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland

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Emil Ylikallio PhD, MD

Emil Ylikallio PhD, MD

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland

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Henna Tyynismaa PhD

Henna Tyynismaa PhD

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland

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Mikko KäRppä PhD, MD

Mikko KäRppä PhD, MD

Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland

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Matilda Veteläinen MD

Matilda Veteläinen MD

Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland

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Niina Peltola MD

Niina Peltola MD

Department of Neurology, Tampere University Hospital and Faculty of Medical and Life Sciences, University of Tampere, Tampere, Finland

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Svein Ivar Mellgren PhD, MD

Svein Ivar Mellgren PhD, MD

Department of Neurology, University Hospital of North Norway, Tromsø, Norway

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Åse Mygland PhD, MD

Åse Mygland PhD, MD

Department of Neurology, Sørlandet Hospital, Kristiansand, Norway

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Chantal Tallaksen PhD, MD

Chantal Tallaksen PhD, MD

Department of Neurology, Oslo University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway

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Henning Andersen PhD, MD

Henning Andersen PhD, MD

Department of Neurology, Aarhus University Hospital, Aarhus, Denmark

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Astrid Juhl Terkelsen PhD, MD

Astrid Juhl Terkelsen PhD, MD

Department of Neurology, Aarhus University Hospital, Aarhus, Denmark

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Freja Fontain MD

Freja Fontain MD

Department of Neurology, Aarhus University Hospital, Aarhus, Denmark

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Aki Hietaharju PhD, MD

Aki Hietaharju PhD, MD

Department of Neurology, Tampere University Hospital and Faculty of Medical and Life Sciences, University of Tampere, Tampere, Finland

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First published: 24 September 2018
Citations: 13

Funding: Sanofi Genzyme; Alnylam Pharmaceuticals

Conflicts of Interest: A.H. has received personal fees and nonfinancial support from Sanofi Genzyme, outside the submitted work. The remaining authors have no conflicts of interest to disclose.

ABSTRACT

Introduction: In this study we assessed the value of genetic screening for Fabry disease (FD) and hereditary ATTR amyloidosis in patients with idiopathic small-fiber neuropathy (SFN) or mixed neuropathy in a clinical setting. Methods: This was a Nordic multicenter study with 9 participating centers. Patients with idiopathic SFN or mixed neuropathy were included. Genetic sequencing of the TTR and GLA genes was performed. Results: There were 172 patients enrolled in the study. Genetic screening was performed in 155 patients. No pathogenic mutations in the TTR gene were found. A single patient had a possible pathogenic variant, R118C, in the GLA gene, but clinical investigation showed no firm signs of FD. Discussion: Screening for hereditary ATTR amyloidosis and FD in patients with idiopathic SFN or mixed neuropathy without any additional disease-specific symptoms or clinical characteristics in a Nordic population appears to be of little value in a clinical setting. Muscle Nerve 59:354–357, 2019

Abstract

See editorial on pages 280–282 in this issue.

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