Discovery Of Cause of PKD/IC Linked To Genetic Mutations

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In a recent discovery by a global team of researches led by a primary team of scientists at the University of California, San Fransico, the cause of Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC) – a rare childhood disease and a cause for epilepsy in babes and disorders in older children – has been found to be PRRT2 – a mysterious gene found in the brain.

In a largely global team with researchers hailing from New York, Tokyo, London, and Istanbul, this discovery is regarded important as it can not only help figure out the causes for PKD/IC but also other movement disorders such as Parkinson’s disease.

By understanding the genetic mutations in the gene PRRT2, researchers are confident that doctors will be able to give a definite diagnosis to the condition. Louis Ptacek – professor of Neurology at UCSF and also a Howard Hughes Medical Institute Investigator – feels that gaining insights on the underlying biology of the aforementioned disease is crucial to understand movement disorders in general.

The PKD/IC causes epileptic seizures in infants. While it’s known to disappear within a couple of years maximum, it has a tendency to return later in childhood causing movement disorders such as startling movements, involuntary jerks, etc.

PKD/IC is a rare disease occurring only to 1 out of every 100,000 people in the U.S. The disease is also said to be one of those that doctors and researchers don’t really understand, according to Mr.Ptacek.

The interesting thing about this condition is that it shows no signs in the human body. For instance, after an MRI scan, no injuries, abnormalities, or signs of the disease such as tumors are found. Yet, the disease shows up. Based on a close observation with over 103 families, which had at least of the members with a history of PKD/IC, it has been revealed that the mutations of the PRRT2 gene causes the proteins to shrink or vanish altogether from the brain and the spinal cord.

The resulting neurological symptoms were correlated to the loss of neuronal regulation. Where nerve cells would have been regulated due to the PRRT2 gene, it’s absence causes nerve cells to fire up, cause spastic movements, and hence lead to these involuntary jerks or movement disorders.



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