Natural History Study of Synucleinopathies

Multiple System Atrophy

Multiple system atrophy, or MSA, is a rare, degenerative neurological condition that affects both men and women, usually starting in the 50’s or early 60’s. MSA is a type of atypical parkinsonism, with widespread effects on the brain and body. The condition was first reported in 1962 and named Shy-Drager syndrome, after the two physicians who described the patients showing a combination of Parkinson-like problems with movement and  autonomic dysfunction.

Common and Distinguishing Features

• Similarities to Parkinson disease: Both Parkinson’s disease and MSA are characterized by deposits of a protein known as alpha-synuclein in the nervous system. Both conditions  affect cells that produce dopamine, a neurotransmitter that controls motor commands. As a result, similar problems with motor control occur in the two conditions.
• Unique Features: MSA affects an area of the brain known as the cerebellum, resulting in difficulty with balance and coordination. Patients with MSA can be diagnosed with the cerebellar form of the disease or a parkinsonian form. The particular pattern of movement problems can help clinicians distinguish MSA from Parkinson disease.
• Another distinguishing feature of MSA is the types of cells involved. While Parkinson’s disease affects the dopamine-producing neurons of motor-controlling areas of the brain known as the nigro-striatial, MSA affects both neurons and glial cells. Glial cells help support the fatty substance (myelin) that insulates neurons they are vital for the health and survival of nerve cells.

Diagnosis

The diagnosis of MSA is made in the clinic. There is no specific blood test. Instead, doctors rely on a combination of symptom history, physical examination findings and lab tests to evaluate the motor system, coordination and autonomic function and probable diagnosis.

Patients with MSA may be asked to undergo an MRI scan of the brain. This can show a “hot cross bun sign” with areas of brightly glowing structures that can be helpful in telling MSA apart from other neurodegenerative conditions. The hot cross bun sign may not always be present, particularly in the early stages of the disease.

New studies are ongoing to find early clues to diagnose MSA earlier. A recent study shows that a fall in blood pressure on standing (neurogenic orthostatic hypotension), acting out dreams (REM sleep behaviour disorder), preserved ability to perceive smells, in combination with autonomic biomarkers, are associated with an increased risk of developing future MSA in the pre-motor stage. For more details see: here.

Definitive diagnosis is made after the patient has passed away, and pathologists confirm clumps of aggregated alpha-synuclein protein in brain tissue.

The MSA Coalition is a resource for patients, families and caregivers living with MSA. To learn more, visit the Coalition’s site: https://www.multiplesystematrophy.org/about-msa

To help researchers better understand multiple system atrophy it is critical for all patients to enroll in the Global MSA Registry: