• Accuracy of neuropathic pain measurements in patients with symptoms of polyneuropathy: validation of painDETECT, Self-Completed Leeds Assessment of Neuropathic Symptoms and Signs, and Douleur Neuropathique 4 

      Dunker, Øystein; Grotle, Margreth; Kvaløy, Marie Bu; Uglem, Martin; Løseth, Sissel; Hjelland, Ina Elen; Kleggetveit, Inge Petter; Allen, Sara Maria; Vigeland, Maria Dehli; Killingmo, Rikke Munk; Sand, Trond; Nilsen, Kristian Bernhard (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-10-10)
      Pain is a common symptom in patients referred to polyneuropathy assessment. Diagnostic evaluation and choice of treatment may depend on whether the pain is likely to be neuropathic or not. This study aimed to investigate the diagnostic accuracy of 3 tools commonly used to differentiate between neuropathic and nonneuropathic pain. To accomplish this, we included patients with bilateral distal lower ...
    • Diagnostic accuracy of the 5.07 monofilament test for diabetes polyneuropathy: influence of age, sex, neuropathic pain and neuropathy severity 

      Dunker, Øystein; Uglem, Martin; Kvaløy, Marie Bu; Løseth, Sissel; Hjelland, Ina Elen; Allen, Sara Maria; Vigeland, Maria Dehli; Kleggetveit, Inge Petter; Sand, Trond Halfdan; Nilsen, Kristian Bernhard (Journal article; Tidsskriftartikkel; Peer reviewed, 2023-11-20)
      Introduction There is a need for simple and cheap diagnostic tools for diabetic polyneuropathy (DPN). We aimed to assess the diagnostic accuracy of the 5.07/10 g monofilament test in patients referred to polyneuropathy assessments, as well as to examine how disease severity, age, sex and neuropathic pain (NP) impact diagnostic accuracy.<p> <p>Research design and methods Five Norwegian university ...
    • Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene 

      Müller, Kai Ivar; Nilssen, Øivind; Nebuchenykh, Maria; Løseth, Sissel; Jonsrud, Christoffer; Hoem, Gry; Van Ghelue, Marijke; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-10-19)
      We present a retrospective 21-year follow-up of two sisters with X-linked biallelic CAG expansions in the androgen receptor (AR) gene causing Kennedy disease. Two sisters inherited CAG expansions from their mother who was a carrier and their father who had Kennedy disease. Genetic testing revealed alleles comprising 43/45, and 43/43 CAG repeats in the younger and older sister, respectively. They ...
    • Late onset sensory-motor axonal neuropathy, a novel SLC12A6 related phenotype 

      Løseth, Sissel; Høyer, Helle; Delpire, Eric; Kinge, Einar; Lande, Asgeir; Hilmarsen, Hilde Tveitan; Fagerheim, Toril; Nilssen, Øivind; Braathen, Geir Julius; Le, Kim-Mai (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-12-21)
      We describe five families from different regions in Norway with a late onset autosomal dominant hereditary polyneuropathy sharing a heterozygous variant in the SLC12A6 gene. Mutations in the same gene have previously been described in infants with autosomal recessive hereditary motor and sensory neuropathy with corpus callosum agenesis and mental retardation (Andermann syndrome), and in a few ...
    • Pain in adult myotonic dystrophy type 1: relation to function and gender 

      Solbakken, Gro; Løseth, Sissel; Froholdt, Anne; Eikeland, Torunn D.; Nærland, Terje; Frich, Jan C.; Dietrichs, Espen; Ørstavik, Kristin (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-03-04)
      <i>Background</i> - Pain is prevalent in myotonic dystrophy 1 (DM1). This study investigated whether CTG repeat size, disease duration, BMI and motor and psychological function were related to pain in adult patients with DM1, and if there were gender differences regarding intensity and location of pain.<br><br> <i>Method</i> - Cross-sectional design. Pain was investigated in 50 genetically confirmed ...
    • Small and large fiber neuropathy in adults with Myotonic dystrophy type 1 

      Solbakken, Gro; Løseth, Sissel; Frich, Jan; Dietrichs, Espen; Ørstavik, Kristin (Journal article; Tidsskriftartikkel; Peer reviewed, 2024-03-05)
      Introduction: Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disorder that affects multiple organs. In this study, we investigated symptoms of pain and presence of small and large fiber neuropathy in the juvenile and adult form of DM1.<p> <p>Method: Twenty genetically verified DM1 patients were included. Pain was assessed, and neurological examination and investigations of ...