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Functional and morphometric assessment of small-fibre damage in late-onset hereditary transthyretin amyloidosis with polyneuropathy: the controversial relation between small-fibre-related symptoms and diagnostic test findings.
Galosi, Eleonora; Leonardi, Luca; Falco, Pietro; Di Pietro, Giuseppe; Fasolino, Alessandra; Esposito, Nicoletta; Leone, Caterina; Di Stefano, Giulia; Inghilleri, Maurizio; Luigetti, Marco; Giovanni, Antonini; Truini, Andrea.
Afiliación
  • Galosi E; Department of Human Neuroscience, Sapienza University, Rome, Italy.
  • Leonardi L; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University, Rome, Italy.
  • Falco P; Department of Human Neuroscience, Sapienza University, Rome, Italy.
  • Di Pietro G; Department of Human Neuroscience, Sapienza University, Rome, Italy.
  • Fasolino A; Department of Human Neuroscience, Sapienza University, Rome, Italy.
  • Esposito N; Department of Human Neuroscience, Sapienza University, Rome, Italy.
  • Leone C; Department of Human Neuroscience, Sapienza University, Rome, Italy.
  • Di Stefano G; Department of Human Neuroscience, Sapienza University, Rome, Italy.
  • Inghilleri M; Department of Human Neuroscience, Sapienza University, Rome, Italy.
  • Luigetti M; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.
  • Giovanni A; UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Truini A; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University, Rome, Italy.
Amyloid ; 30(1): 59-66, 2023 Mar.
Article en En | MEDLINE | ID: mdl-36094793
INTRODUCTION: We aimed at investigating whether functional and morphometric tests assessing small-fibre damage, ie quantitative sensory testing, Sudoscan and skin biopsy, reliably reflect neuropathic pain and autonomic symptoms in patients with late-onset hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). METHODS: In 30 patients with late-onset ATTRv-PN, we collected quantitative sensory testing, Sudoscan and skin biopsy with assessment of intraepidermal, piloerector muscle and sweat gland nerve fibre density. We then correlated these functional and morphometric parameters with neuropathic pain and autonomic symptoms as assessed with the Neuropathic Pain Symptom Inventory (NPSI) and Composite Autonomic Symptom Score-31 (COMPASS-31). RESULTS: 50% of patients showed small-fibre damage in the form of a pure small-fibre neuropathy, 47% in the context of a mixed fibre neuropathy with small and large fibre involvement. All patients complained of at least one autonomic symptom and 60% had neuropathic pain. Whereas quantitative sensory testing and Sudoscan parameters correlated with neuropathic pain and autonomic symptoms as assessed by NPSI and COMPASS-31, intraepidermal, piloerector muscle and sweat gland nerve fibre density quantification did not. CONCLUSIONS: Our findings indicate that functional test parameters reliably reflect neuropathic pain and autonomic symptoms related to small-fibre damage. These findings might help to identify clinically useful biomarkers to assess patient follow-up.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polineuropatías / Neuropatías Amiloides Familiares / Neuralgia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Amyloid Asunto de la revista: BIOQUIMICA Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polineuropatías / Neuropatías Amiloides Familiares / Neuralgia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Amyloid Asunto de la revista: BIOQUIMICA Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido