Upregulation of inward rectifying currents and Fabry disease neuropathy

• Published in: Journal of the peripheral nervous system 2012-12, Vol.17 (4), p.399-406
• Main Authors: Geevasinga, Nimeshan, Tchan, Michel, Sillence, David, Vucic, Steve
• Format: Article
• Language: English
• Subjects: Adult; Axons; Axons - physiology; Cyclic Nucleotide-Gated Cation Channels - physiology; Depolarization; Electric Stimulation; Electrodiagnosis; Excitability; Fabry disease; Fabry Disease - genetics; Fabry Disease - metabolism; Fabry Disease - physiopathology; Fabry's disease; Female; Humans; Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels; inward rectifying current; Ischemia; Male; Median Nerve - physiopathology; Membrane potential; Middle Aged; Motor neurons; Motor Neurons - physiology; Muscle Strength; Neuralgia - etiology; neurogenic pain; Neuromodulation; Neuropathy; Pain Measurement; Peripheral Nerves - metabolism; Peripheral Nerves - physiopathology; Peripheral neuropathy; Potassium Channels - physiology; Potassium Channels, Inwardly Rectifying - genetics; Potassium Channels, Inwardly Rectifying - metabolism; Sensory neurons; Sensory Receptor Cells - physiology; Up-Regulation - physiology
• ISSN: 1085-9489; 1529-8027
• DOI: 10.1111/j.1529-8027.2012.00438.x

Peripheral neuropathy and neuropathic pain are common clinical manifestations of Fabry disease (FD). Although the mechanisms underlying the development of sensory neuropathy remain to be fully elucidated, a chronic ischemic process was proposed. Consequently, this study utilized axonal excitability techniques to gain further insights into the pathophysiological mechanisms underlying the development of FD neuropathy. Median motor and sensory axonal excitability studies were undertaken in 13 FD patients and results were compared to 19 healthy subjects. A “fanning‐in” of threshold electrotonus, suggestive of membrane depolarization, was evident only in motor axons in FD patients. In contrast, the sensory axons exhibited a lower threshold in FD (p