University of Oulu

Samuelsson, K. , Radovic, A. , Press, R. , Auranen, M. , Ylikallio, E. , Tyynismaa, H. , KäRppä, M. , Veteläinen, M. , Peltola, N. , Mellgren, S. I., Mygland, Å. , Tallaksen, C. , Andersen, H. , Terkelsen, A. J., Fontain, F. and Hietaharju, A. (2019), Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small‐fiber and mixed neuropathy. Muscle Nerve, 59: 354-357. doi:10.1002/mus.26348

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

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Author: Samuelsson, Kristin1; Radovic, Ana2; Press, Rayomand1;
Organizations: 1Department of Clinical Neuroscience, Karolinska Institute, R54, Huddinge, 141 86 Stockholm, Sweden
2Department of Neurology, Karolinska University Hospital, Stockholm, Sweden
3Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland
4Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland
5Department of Neurology, Tampere University Hospital and Faculty of Medical and Life Sciences, University of Tampere, Tampere, Finland
6Department of Neurology, University Hospital of North Norway, Tromsø, Norway
7Department of Neurology, Sørlandet Hospital, Kristiansand, Norway
8Department of Neurology, Oslo University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway
9Department of Neurology, Aarhus University Hospital, Aarhus, Denmark
Format: article
Version: accepted version
Access: embargoed
Persistent link: http://urn.fi/urn:nbn:fi-fe2019070922896
Language: English
Published: John Wiley & Sons, 2019
Publish Date: 2020-03-31
Description:

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.

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Series: Muscle & nerve
ISSN: 0148-639X
ISSN-E: 1097-4598
ISSN-L: 0148-639X
Volume: 59
Issue: 3
Pages: 354 - 357
DOI: 10.1002/mus.26348
OADOI: https://oadoi.org/10.1002/mus.26348
Type of Publication: A1 Journal article – refereed
Field of Science: 3124 Neurology and psychiatry
Subjects:
Copyright information: © 2018 Wiley Periodicals, Inc. This is the peer reviewed version of the following article: Samuelsson, K. , Radovic, A. , Press, R. , Auranen, M. , Ylikallio, E. , Tyynismaa, H. , KäRppä, M. , Veteläinen, M. , Peltola, N. , Mellgren, S. I., Mygland, Å. , Tallaksen, C. , Andersen, H. , Terkelsen, A. J., Fontain, F. and Hietaharju, A. (2019), Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small‐fiber and mixed neuropathy. Muscle Nerve, 59: 354-357. doi:10.1002/mus.26348, which has been published in final form at https://doi.org/10.1002/mus.26348. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.