Multiple system atrophy (MSA) is a progressive degenerative neurological disorder that affects adult men and women, usually in their 50s or 60s. It is caused by degeneration or atrophy of nerve cells in specific areas of the brain. It is still unclear as to why cells become damaged in people with MSA and further research needs to be conducted into why and how this happens.
The shrinking of the cells can cause problems with movement, balance and autonomic functions of the body such as bladder and blood pressure control.
Symptoms may include fainting spells and problems with heart rate, erectile dysfunction, and bladder control. Motor impairments (ie, loss of or limited muscle control or movement, or limited mobility) may include tremor, rigidity, and/or loss of muscle coordination as well as difficulties with speech and gait (the way a person walks).
The clinical features of MSA overlap with those of Parkinson’s disease, and for this reason, early cases of MSA are often misdiagnosed as Parkinson’s disease. We now know that the feature that definitively identifies MSA pathology is the buildup of a protein called alpha-synuclein in oligodendrocytes, the support cells of the brain.
These cells are responsible for producing myelin, which is the specialised membrane that encases the nerve fibres in the brain. The alpha-synuclein protein buildups in the brain of people with MSA mean that the oligodendrocytes cannot properly make myelin, and without myelin the neurons will degenerate and eventually die.
The cause of MSA is unknown, no specific risk factors have been identified, and there is no cure or effective treatment. Treatment for MSA includes medications and lifestyle changes to help manage symptoms. The condition progresses gradually and eventually leads to death.
Originally Published by the Seattle Children’s Research Institute A study conducted by an international research team, which included investigators from NeuRA and the Seattle Children’s Research Institute, implicates variants in four genes as a primary cause of non-syndromic cleft lip and palate in humans. The genes, associated for the first time with cleft lip and palate, encode proteins that […]