Skin Biopsy as a Diagnostic Tool for <scp>ATTRv</scp> Amyloid Neuropathy in the <scp>UK</scp>
Skin biopsy is a useful, minimally invasive method for diagnosing ATTRv-PN. It allowed a substantial number of patients to commence gene silencing treatment. As Thr60Ala and Val122Ile are the commonest TTR variants in the UK and patients often present with cardiomyopathy, early diagnosis of ATTRv-PN is critical for treatment decisions.
Authors
- Alexander Martin Rossor (ORCID: https://orcid.org/0000-0003-4648-2896)
- Dorota M. Rowczenio (ORCID: https://orcid.org/0000-0002-3511-6789)
- Mary M. Reilly (ORCID: https://orcid.org/0000-0003-0686-905X)
- Mariola Skorupinska
- Matilde Laurá (ORCID: https://orcid.org/0000-0001-8264-8676)
- Janet A. Gilbertson (ORCID: https://orcid.org/0009-0007-8733-356X)
- Yousuf Razvi (ORCID: https://orcid.org/0000-0003-4766-3293)
- Luke O’Donnell (ORCID: https://orcid.org/0000-0001-9514-1516)
- Victor Wei Zhang (ORCID: https://orcid.org/0000-0002-7335-1472)
- Julian D. Gillmore
- Roy Carganillo
Institutions
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
Publication Details
- Journal
- Journal of the Peripheral Nervous System
- Published
- 2025-06-28
- DOI
- https://doi.org/10.1111/jns.70042
- Citations
- 1
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.81