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Gene mutations linked to most cases of rare disorder -- Alternating Hemoplegia of Childhood
Date:7/30/2012

he study. "The rarity of the disease and the almost exclusively sporadic inheritance made AHC an ideal candidate for next-generation sequencing."

The mysterious and intermittent nature of the neurologic symptoms, which range from unusual eye movements to seizure-like episodes, to partial and/or full body paralysis often results in a prolonged diagnostic odyssey for parents and children, according to Matthew Sweney, M.D., an instructor in the U of U Departments of Neurology and Pediatrics and an epilepsy specialist at Primary Children's Medical Center. "Families often present again and again to the emergency room, and children may undergo dozens of tests and invasive procedures," says Sweney, also a study co-author. "Often, it is only after the spells fail to respond to antiepileptic medications that the diagnosis is considered."

The ATP1A3 gene encodes one piece of a key transporter molecule that normally would move sodium and potassium ions across a channel between neurons (nerve cells) to regulate brain activity. Mutations in this gene are already known to cause another rare movement disorder, rapid onset dystonia parkinsonism, and clinical testing for mutations in this gene is readily available through a blood test. "Having a means to confirm a diagnosis more quickly, using a simple blood test, will allow us to better care for our patients and provide them opportunities for early enrollment in clinical trials," Swoboda says. "The identification of the gene provides scientists with the opportunity to identify specifically targeted and truly effective therapies."

In a broad international collaborative effort, the initial collaboration between the University of Utah and Duke investigators expanded to involve more than three dozen researchers from 13 countries. "This discovery is a testament to the power of the next-generation sequencing technologies, which are becoming increasingly available as a result of the Human Genome Project," sa
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Contact: Phil Sahm
phil.sahm@hsc.utah.edu
801-581-2517
University of Utah Health Sciences
Source:Eurekalert

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