POSTED: December, 2006 (PNMG).
Most case of Parkinson’s disease (PD) still fall in the category of “unknown,” but genetic factors play an important role. Just how important a role is becoming increasingly clear. The discovery in 2004 that mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are a common cause of Parkinson’s disease has revolutionized the field of Parkinson’s research. According to the National Institute of Neurological Disorders and Stroke, “20 LRRK2 mutations have been linked to PD, accounting for approximately 7% of familial PD and for a significant fraction of sporadic PD cases.” The most common LRRK2 mutation may cause up to “40% of familial and sporadic PD in North African Arab populations, 30% of familial PD in Ashkenazi Jewish populations, up to 6% of familial cases in Europe, and up to 3% of apparently sporadic PD in Europe and North America.” Now scientists from the University of Torino in Italy, led by Professor Maria Teresa Giordana, have reported on autopsy findings in a patient with a relatively uncommon Ile1371Val LRRK2 mutation. Dr. Giodana and her team found typical ubiquitin- and alpha-synuclein-positive Lewy body pathology, showing that it is possible that “the neurodegeneration associated with LRRK2 mutations might be clinically and pathologically indistinguishable from typical PD.” According to James P. Sutton, Medical Director of Pacific Neuroscience Medical Group, “This report is an important contribution to our understanding of the basic mechanisms that underlie more common sporadic case of Parkinson’s disease.”

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