Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review
Peripheral and autonomic neuropathy are common disease manifestations in systemic amyloidosis. The neurofilament light chain (NfL), a neuron-specific biomarker, is released into the blood and cerebrospinal fluid after neuronal damage. There is a need for an early and sensitive blood biomarker for po...
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MDPI AG
2024-03-01
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| Series: | International Journal of Molecular Sciences |
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| author | Milou Berends Hans L. A. Nienhuis David Adams Chafic Karam Marco Luigetti Michael Polydefkis Mary M. Reilly Yoshiki Sekijima Bouke P. C. Hazenberg |
| author_facet | Milou Berends Hans L. A. Nienhuis David Adams Chafic Karam Marco Luigetti Michael Polydefkis Mary M. Reilly Yoshiki Sekijima Bouke P. C. Hazenberg |
| author_sort | Milou Berends |
| collection | DOAJ |
| description | Peripheral and autonomic neuropathy are common disease manifestations in systemic amyloidosis. The neurofilament light chain (NfL), a neuron-specific biomarker, is released into the blood and cerebrospinal fluid after neuronal damage. There is a need for an early and sensitive blood biomarker for polyneuropathy, and this systematic review provides an overview on the value of NfL in the early detection of neuropathy, central nervous system involvement, the monitoring of neuropathy progression, and treatment effects in systemic amyloidosis. A literature search in PubMed, Embase, and Web of Science was performed on 14 February 2024 for studies investigating NfL levels in patients with systemic amyloidosis and transthyretin gene-variant (<i>TTR</i>v) carriers. Only studies containing original data were included. Included were thirteen full-text articles and five abstracts describing 1604 participants: 298 controls and 1306 <i>TTR</i>v carriers or patients with or without polyneuropathy. Patients with polyneuropathy demonstrated higher NfL levels compared to healthy controls and asymptomatic carriers. Disease onset was marked by rising NfL levels. Following the initiation of transthyretin gene-silencer treatment, NfL levels decreased and remained stable over an extended period. NfL is not an outcome biomarker, but an early and sensitive disease-process biomarker for neuropathy in systemic amyloidosis. Therefore, NfL has the potential to be used for the early detection of neuropathy, monitoring treatment effects, and monitoring disease progression in patients with systemic amyloidosis. |
| first_indexed | 2024-04-24T10:43:42Z |
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| language | English |
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| publishDate | 2024-03-01 |
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| series | International Journal of Molecular Sciences |
| spelling | doaj.art-be06215b9d594c118f735708572958652024-04-12T13:19:42ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672024-03-01257377010.3390/ijms25073770Neurofilament Light Chains in Systemic Amyloidosis: A Systematic ReviewMilou Berends0Hans L. A. Nienhuis1David Adams2Chafic Karam3Marco Luigetti4Michael Polydefkis5Mary M. Reilly6Yoshiki Sekijima7Bouke P. C. Hazenberg8Department of Internal Medicine, Amyloidosis Center of Expertise, University Medical Center Groningen, 9700 RB Groningen, The NetherlandsDepartment of Internal Medicine, Amyloidosis Center of Expertise, University Medical Center Groningen, 9700 RB Groningen, The NetherlandsService de Neurologie, CHU Bicêtre, Assistance Publique—Hôpitaux de Paris, University Paris-Saclay, CERAMIC, Le Kremlin-Bicêtre, 94270 Paris, FranceDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USAUOC Neurologia, Fondazione Policlinico A. Gemelli IRCCS, 00168 Rome, ItalyDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USACentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UKDepartment of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto 390-8621, JapanDepartment of Rheumatology & Clinical Immunology, Amyloidosis Center of Expertise, University Medical Center Groningen, 9700 RB Groningen, The NetherlandsPeripheral and autonomic neuropathy are common disease manifestations in systemic amyloidosis. The neurofilament light chain (NfL), a neuron-specific biomarker, is released into the blood and cerebrospinal fluid after neuronal damage. There is a need for an early and sensitive blood biomarker for polyneuropathy, and this systematic review provides an overview on the value of NfL in the early detection of neuropathy, central nervous system involvement, the monitoring of neuropathy progression, and treatment effects in systemic amyloidosis. A literature search in PubMed, Embase, and Web of Science was performed on 14 February 2024 for studies investigating NfL levels in patients with systemic amyloidosis and transthyretin gene-variant (<i>TTR</i>v) carriers. Only studies containing original data were included. Included were thirteen full-text articles and five abstracts describing 1604 participants: 298 controls and 1306 <i>TTR</i>v carriers or patients with or without polyneuropathy. Patients with polyneuropathy demonstrated higher NfL levels compared to healthy controls and asymptomatic carriers. Disease onset was marked by rising NfL levels. Following the initiation of transthyretin gene-silencer treatment, NfL levels decreased and remained stable over an extended period. NfL is not an outcome biomarker, but an early and sensitive disease-process biomarker for neuropathy in systemic amyloidosis. Therefore, NfL has the potential to be used for the early detection of neuropathy, monitoring treatment effects, and monitoring disease progression in patients with systemic amyloidosis.https://www.mdpi.com/1422-0067/25/7/3770systemic amyloidosishereditary transthyretin amyloidimmunoglobulin light chain amyloidtransthyretin gene-variant carrierbiomarkerneurofilament light chain |
| spellingShingle | Milou Berends Hans L. A. Nienhuis David Adams Chafic Karam Marco Luigetti Michael Polydefkis Mary M. Reilly Yoshiki Sekijima Bouke P. C. Hazenberg Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review International Journal of Molecular Sciences systemic amyloidosis hereditary transthyretin amyloid immunoglobulin light chain amyloid transthyretin gene-variant carrier biomarker neurofilament light chain |
| title | Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review |
| title_full | Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review |
| title_fullStr | Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review |
| title_full_unstemmed | Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review |
| title_short | Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review |
| title_sort | neurofilament light chains in systemic amyloidosis a systematic review |
| topic | systemic amyloidosis hereditary transthyretin amyloid immunoglobulin light chain amyloid transthyretin gene-variant carrier biomarker neurofilament light chain |
| url | https://www.mdpi.com/1422-0067/25/7/3770 |
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