Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy
Samuelsson, Kristin; Radovic, Ana; Press, Rayomand; Auranen, Mari; Ylikallio, Emil; Tyynismaa, Henna; Kärppä, Mikko; Veteläinen, Matilda; Peltola, Niina; Mellgren, Svein Ivar; Mygland, Åse; Tallaksen, Chantal; Andersen, Henning; Juhl Terkelsen, Astrid; Fontain, Freja; Hietaharju, Aki (2019-03-31)
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. https://doi.org/10.1002/mus.26348
© 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.
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https://urn.fi/URN:NBN:fi-fe2019070922896
Tiivistelmä
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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