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

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DOI

  • Kristin Samuelsson, NatMEG, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • ,
  • Ana Radovic, Department of Neurology, Karolinska University Hospital, Stockholm, Sweden
  • ,
  • Rayomand Press, NatMEG, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • ,
  • Mari Auranen, Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • ,
  • Emil Ylikallio, Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • ,
  • Henna Tyynismaa, Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • ,
  • Mikko Kärppä, Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.
  • ,
  • Matilda Veteläinen, Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.
  • ,
  • Niina Peltola, Department of Neurology, Tampere University Hospital and Faculty of Medical and Life Sciences, University of Tampere, Tampere, Finland.
  • ,
  • Svein Ivar Mellgren, Department of Clinical Medicine, UiT The Arctic University of Norway and University Hospital of North Norway, Department of Neurology, Tromsø, Norway.
  • ,
  • Åse Mygland, Department of Neurology, Sørlandet Hospital, Kristiansand, Norway.
  • ,
  • Chantal Tallaksen, Department of Neurology, Oslo University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.
  • ,
  • Henning Andersen
  • Astrid J. Terkelsen
  • Freja Fontain, Department of Neurology, Aarhus University Hospital, Aarhus, Denmark.
  • ,
  • Aki Hietaharju, Department of Neurology, Tampere University Hospital and Faculty of Medical and Life Sciences, University of Tampere, Tampere, Finland.

INTRODUCTION: We aimed to explore 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: 172 patients were enrolled. 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 the 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. This article is protected by copyright. All rights reserved.

OriginalsprogEngelsk
TidsskriftMuscle & Nerve
Vol/bind59
Nummer3
Sider (fra-til)354-357
ISSN0148-639X
DOI
StatusUdgivet - mar. 2019

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