{
  "abstract": "A 76-year-old man developed progressive motor weakness, bulbar symptoms and hand muscle atrophy, initially suspected to be due to motor neurone disease. Unexpected findings on cardiological evaluation identified amyloidosis, and genetic testing confirmed the TTR p.Val50Met mutation, indicating late-onset hereditary transthyretin amyloidosis with a mixed neuropathic and cardiac phenotype. The diagnosis was delayed and complicated by minimal sensory symptoms and the atypical presentation.",
  "authors": [
    {
      "affiliations": [
        "University Hospital Bonn Neurology Centre, Bonn, Germany",
        "ALS Clinic, Charité—Universitätsmedizin Berlin, Berlin, BE, Germany"
      ],
      "name": "Sarah Bernsen"
    },
    {
      "affiliations": [
        "University Hospital Bonn Neurology Centre, Bonn, Germany",
        "Clinical Research, Deutsches Zentrum für Neurodegenerative Erkrankungen, Bonn, NRW, Germany"
      ],
      "name": "Patrick Weydt"
    }
  ],
  "title": "Hereditary transthyretin amyloidosis with hand weakness and bulbar involvement",
  "uid": "4e304ee0-9858-5200-9bf0-e0ec257e1505"
}