Novella SP

Research Topics

Complementary and Alternative Medicine Studies (6) Pain Mechanisms and Treatments (3) Pain Management and Placebo Effect (3) Vaccine Coverage and Hesitancy (2) Amyotrophic Lateral Sclerosis Research (2)

Erythromelalgia Publications

A case of inherited erythromelalgia.

Novella SP, Hisama FM, Dib-Hajj SD, Waxman SG

Nature clinical practice. Neurology • 2007-Apr-01

A 15-year-old boy presented with recurrent episodes of erythema and burning pain in the distal extremities, which he had experienced since early childhood. The episodes were triggered by heat or exertion. His medical history revealed an extensive six-generation family history of similar symptoms. Neurological examination, MRI brain scan, electromyography, skin biopsy, laboratory blood testing, and DNA analysis. Juvenile onset primary erythromelalgia. Genetic counseling, and symptomatic management of neuropathic pain.

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Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S , et al.

Brain : a journal of neurology • 2005-Aug-01

Erythromelalgia is an autosomal dominant disorder characterized by burning pain in response to warm stimuli or moderate exercise. We describe a novel mutation in a family with erythromelalgia in SCN9A, the gene that encodes the Na(v)1.7 sodium channel. Na(v)1.7 produces threshold currents and is selectively expressed within sensory neurons including nociceptors. We demonstrate that this mutation, which produces a hyperpolarizing shift in activation and a depolarizing shift in steady-state inactivation, lowers thresholds for single action potentials and high frequency firing in dorsal root ganglion neurons. Erythromelalgia is the first inherited pain disorder in which it is possible to link a mutation with an abnormality in ion channel function and with altered firing of pain signalling neurons.

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