Professor Robert Chen
Editor-in-Chief, Clinical Neurophysiology
Carroll AS, Park SB, Lin CSY, Taylor MS, Kwok F, Simon NG, Reilly MM, Kiernan MC, Vucic S..
Recent advances in genetic therapies have revolutionized the treatment of several rare genetic disorders, including hereditary transthyretin amyloidosis. A sensitive biomarker for monitoring disease progression would be very useful for this multisystem disease that causes polyneuropathy. Axonal excitability measures assess ion channel and membrane functions, and provide information on state of peripheral nerves that are complementary to conventional nerve conduction studies. In this volume of Clinical Neurophysiology, Carroll et al. tested axonal excitability in across a spectrum of patients with hereditary transthyretin amyloid gene variants with and without large fiber neuropathy, and healthy controls. The authors observed that disease progression was associated with a continuum of excitability changes in motor and sensory axons. These findings suggest that axonal excitability measures may be useful to monitor disease progression and potentially treatment response.