Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis.

Kapoor M1, Foiani M2,3, Heslegrave A2,3, Zetterberg H2,3,4,5, Lunn MP1, Malaspina A6, Gillmore JD7, Rossor AM1, Reilly MM1.

Author information

1: MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
2: Department of Neurodegenerative Disease, University College London Queen Square Institute of Neurology, London, UK.
3: UK Dementia Research Institute at University College London, London, UK.
4: Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.
5: Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.
6: Trauma and Neuroscience Centre, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
7: National Amyloidosis Centre, University College London, London, UK.

Abstract

Hereditary transthyretin amyloidosis (ATTRm) causes a disabling peripheral neuropathy as part of a multisystem disorder. The recent development of highly effective gene silencing therapies has highlighted the need for effective biomarkers of disease activity to guide the decision of when to start and stop treatment. In this study, we measured plasma neurofilament light chain (pNfL) concentration in 73 patients with ATTR and found that pNfL was significantly raised in ATTRm patients with peripheral neuropathy compared to healthy controls. Furthermore, pNFL correlated with disease severity as defined by established clinical outcome measures in patients for whom this information was available. These findings suggest a potential role of pNfL in monitoring disease activity and progression in ATTRm patients.