Actor Michael J. Fox has drawn national attention to the tremors and difficulties with balancing and walking that affect him and the one million other Americans with Parkinson disease. But for researchers in Cyrus Zabetian’s lab at the University of Washington’s Pacific Northwest Udall Center (PANUC), the condition goes beyond the motor system. As neurogeneticists, they study the genetic glitches that steer the trajectory of some patients into cognitive impairment and dementia.
The risk of developing Parkinson disease in one’s lifetime hovers around 1-2% in the general population. However, mutations in a gene called GBA bump up that risk about 5 fold. What’s more, neurogeneticists have long observed that patients who have one of these mutations often develop cognitive problems earlier in life, and slide downhill to dementia faster, than those without a mutation.
In a study published in the journal Movement Disorders, the Zabetian lab showed that mutations, and even a common variant, of the GBA gene lead to a distinct profile of memory and thinking problems in Parkinson’s disease patients. They have also found that GBA is especially frequent in the the Colombian population. For years, they have been following a large group of patients in the Latin American Research Consortium on the Genetics of Parkinson’s disease (LARGE-PD). In a new study published in Parkinsonism & Related Disorders, the team reports that the GBA mutation appears more frequently in Colombian patients than in Peruvian patients and other European populations. The capt
