Kristin Samuelsson1, Ana Radovic2, Rayomand Press1, Mari Auranen3, Emil Ylikallio3, Henna Tyynismaa3, Mikko KäRppä4, Matilda Veteläinen4, Niina Peltola5, Svein Ivar Mellgren6, Åse Mygland7, Chantal Tallaksen8, Henning Andersen9, Astrid Juhl Terkelsen9, Freja Fontain9, Aki Hietaharju5. 1. Department of Clinical Neuroscience, Karolinska Institute, R54, Huddinge, 141 86, Stockholm, Sweden. 2. Department of Neurology, Karolinska University Hospital, Stockholm, Sweden. 3. Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland. 4. Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland. 5. Department of Neurology, Tampere University Hospital and Faculty of Medical and Life Sciences, University of Tampere, Tampere, Finland. 6. Department of Neurology, University Hospital of North Norway, Tromsø, Norway. 7. Department of Neurology, Sørlandet Hospital, Kristiansand, Norway. 8. Department of Neurology, Oslo University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway. 9. Department of Neurology, Aarhus University Hospital, Aarhus, Denmark.
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.
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.