A common genetic variant is associated with frontotemporal lobar degeneration (FTLD), a common cause of dementia, according to a study published online this week in Nature Genetics.
FTLD is characterized by the progressive degeneration of specific areas of the brain, along with progressive deficits in behavior and language. Fifty-percent of patients diagnosed with this disease have a specific form called FTLD-TDP, which is characterized by the presence of neuronal aggregates of TDP-43 protein.
V Van Deerlin and colleagues analyzed approximately 600 post-mortem cases of FTLD-TDP, with confirmed neuropathological evidence of TDP-43 aggregates. The scientists find that a common genetic variant at chromosome 7p21 is associated with increased risk of FTLD-TDP.