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Examining the so-called Basque mutation of Parkinson's
Date:1/31/2013

lation have it.

He also looked into whether the Parkinson's associated with this mutation, R1441G, is similar to that associated with the G2019S. "Studying the non-motor symptoms is very much in vogue in Parkinson's research," says Ruiz. The result of the study indicates that these symptoms are less present in the case of the Basque mutation.

"And armed with this, what can I contribute to science and to my patients? Well, an early diagnosis perhaps, and having a target population that could be the first to benefit from a future neuroprotective treatment, which, it has to be said, does not yet exist," says Ruiz. That is why another part of the research has focused on the quest for biomarkers in people carrying the mutation, since they indicate who has a greater risk of contracting the disease. The study proposes olfactory dysfunction and sympathetic dysfunction measured by cardiac gammagraphy as markers to be studied.

Besides the results obtained, the thesis also points to the lines along which the research needs to be continued. "You owe that to the population; the patients' relatives have altruistically donated their blood to enable us to do this study," explains Ruiz. "We will have to give them answers."


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Elhuyar Fundazioa
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