ArticleJournal of the peripheral nervous system : JPNS2025
Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.
Article in Journal of the peripheral nervous system : JPNS, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Asymptomatic Carrier Neurologic Assessment: A Tool for Early Detection of Symptomatic Transition in Pathogenic TTR Gene Variant Carriers.European journal of neurology · 2026Article
- The Role of Skin Innervation for Assessment of Neurological Involvement in Disorders: A Review.Brain sciences · 2025Review
- Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.Journal of the peripheral nervous system : JPNS · 2025Article
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveGene silencing therapy for ATTRv has revolutionised treatment. In minimally symptomatic, early neuropathic disease, skin biopsy can aid in the diagnosis of ATTRv-PN, assessing both amyloid deposition and IENFD. Our aim was to study the value of performing skin biopsies in the diagnosis of ATTRv-PN in UK patients and to assess the influence of this on accessing gene silencing treatment.
methodsSeventy-three patients had skin biopsies performed between July 2021 and October 2023. These were stained for amyloid, typed by immunohistochemistry, and analysed for IENFD.
resultsThe Thr60Ala (30%), Val122Ile (23%) and Val30Met (22%) variants represented the largest number of cases. Normal/equivocal neurophysiology was demonstrated in 78% of cases. 40% of patients had abnormal IENFD, 33% had positive amyloid and 16% had both. This allowed 33% of patients to start gene silencing therapy, 75% of whom had a preceding amyloid cardiomyopathy diagnosed.
conclusionsSkin 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.
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