WASHINGTON, D.C.: Scientists at the National Institute of Neurological Disorders and Stroke (NINDS) and Johns Hopkins University have conducted a detailed genetic analysis of pathologically confirmed autopsy tissue from patients diagnosed with dementia with Lewy bodies, finding that almost 25 percent of them had mutations or high-risk variants that led to their disease.
The mutations are also associated with both Alzheimer’s disease and Parkinson’s disease, the researchers reported.
“Our findings strongly support the notion that DLB occurs along a continuum between Parkinson’s disease and Alzheimer’s dementia,” said Sonja W. Scholz, MD, PhD, chief of the neurodegenerative diseases research unit in the laboratory of neurogenetics at NINDS, and assistant clinical investigator.
“The majority of these patients did not have family histories for DLB,” Dr. Scholz noted. “We thought we would only find that 1 to 2 percent were triggered by genetic mutations. We found one in four [had the mutations], and we think we have just scratched the surface.”