According to a story from asianscientist.com, a group of Japanese researchers have managed to unearth a genetic mutation that is associated with progressive supranuclear palsy. The discovery is helping scientists more clearly define characteristics that distinguish this condition from other similar illnesses, such as Parkinson’s disease.
Progressive supranuclear palsy (PSP) is a disease characterized by the degeneration of certain volumes within the brain. Symptoms tend to vary somewhat from person to person, but they can include vision problems, changes to personality, slow movements, loss of balance, lunging forward at the beginning of movement, fast walking pace, and a loss of coordination. Later symptoms progress to dementia, stiffness of the neck, incontinence, constipation, problems with speech and swallowing, and difficulty with eye movement. Vision symptoms are often essential for accurate diagnostics. The condition has no cure and treatment options are limited to supporting the patient and management with physical therapy, though this ultimately becomes ineffective as progressive supranuclear palsy progresses. Average lifespan following diagnosis is seven years, but this can vary considerably from case to case. To learn more about progressive supranuclear palsy, click here.
Previously, the cause of PSP was unknown, so the discovery of this mutation is offering the first clue into the nature of this debilitating illness. In the study, the scientists isolated a mutation in the bassoon (BSN) gene as being present in PSP. The researchers also discovered three additional mutations that were present in four patients out of a group of 41 that displayed symptoms that were similar to PSP.
A control group of 100 healthy people had none of the mutations that were present in the BSN gene, which strongly suggests their connection to PSP. In another aspect of the research, an autopsy of a patient that had the condition revealed that a protein called tau had accumulated at an abnormally high concentration within the affected patients brain. This led the team to suggest the possibility that the BSN mutation may be responsible for the buildup of this protein.