Luke F. O'Donnell, Victor Zhang, Roy Carganillo, Alexander M. Rossor, Matilde Laura, Mariola Skorupinska, Janet A. Gilbertson, Dorota Rowczenio, Yousuf Razvi, Julian D. Gillmore, Mary M. Reilly
{"title":"在英国，皮肤活检作为ATTRv淀粉样神经病的诊断工具","authors":"Luke F. O'Donnell, Victor Zhang, Roy Carganillo, Alexander M. Rossor, Matilde Laura, Mariola Skorupinska, Janet A. Gilbertson, Dorota Rowczenio, Yousuf Razvi, Julian D. Gillmore, Mary M. Reilly","doi":"10.1111/jns.70042","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Objective</h3>\n \n <p>Gene 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.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>Seventy-three patients had skin biopsies performed between July 2021 and October 2023. These were stained for amyloid, typed by immunohistochemistry, and analysed for IENFD.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>The 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.</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>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.</p>\n </section>\n </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 3","pages":""},"PeriodicalIF":3.9000,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70042","citationCount":"0","resultStr":"{\"title\":\"Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK\",\"authors\":\"Luke F. O'Donnell, Victor Zhang, Roy Carganillo, Alexander M. Rossor, Matilde Laura, Mariola Skorupinska, Janet A. Gilbertson, Dorota Rowczenio, Yousuf Razvi, Julian D. Gillmore, Mary M. Reilly\",\"doi\":\"10.1111/jns.70042\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Objective</h3>\\n \\n <p>Gene 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.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>Seventy-three patients had skin biopsies performed between July 2021 and October 2023. These were stained for amyloid, typed by immunohistochemistry, and analysed for IENFD.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>The 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.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusions</h3>\\n \\n <p>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.</p>\\n </section>\\n </div>\",\"PeriodicalId\":17451,\"journal\":{\"name\":\"Journal of the Peripheral Nervous System\",\"volume\":\"30 3\",\"pages\":\"\"},\"PeriodicalIF\":3.9000,\"publicationDate\":\"2025-06-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70042\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of the Peripheral Nervous System\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/jns.70042\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the Peripheral Nervous System","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/jns.70042","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK
Objective
Gene 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.
Methods
Seventy-three patients had skin biopsies performed between July 2021 and October 2023. These were stained for amyloid, typed by immunohistochemistry, and analysed for IENFD.
Results
The 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.
Conclusions
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.
期刊介绍：
The Journal of the Peripheral Nervous System is the official journal of the Peripheral Nerve Society. Founded in 1996, it is the scientific journal of choice for clinicians, clinical scientists and basic neuroscientists interested in all aspects of biology and clinical research of peripheral nervous system disorders.
The Journal of the Peripheral Nervous System is a peer-reviewed journal that publishes high quality articles on cell and molecular biology, genomics, neuropathic pain, clinical research, trials, and unique case reports on inherited and acquired peripheral neuropathies.
Original articles are organized according to the topic in one of four specific areas: Mechanisms of Disease, Genetics, Clinical Research, and Clinical Trials.
The journal also publishes regular review papers on hot topics and Special Issues on basic, clinical, or assembled research in the field of peripheral nervous system disorders. Authors interested in contributing a review-type article or a Special Issue should contact the Editorial Office to discuss the scope of the proposed article with the Editor-in-Chief.
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