SNP Shot: Genomic Insights

Perry syndrome is a brain disorder that worsens over time, marked by four key characteristics: parkinsonism (movement problems), psychiatric issues, weight loss, and slowed breathing (hypoventilation). These symptoms generally begin in a person's 40s or 50s.

Parkinsonism and psychiatric symptoms are usually the first signs of Perry syndrome. Parkinsonism includes slow movement (bradykinesia), rigidity, and tremors. These movement problems often occur alongside personality and behavioral changes. Common psychiatric symptoms include depression, lack of interest (apathy), social withdrawal, and suicidal thoughts. Significant and unexplained weight loss also frequently occurs early in the disease.

Hypoventilation, or abnormally slow breathing, develops later in Perry syndrome. It often occurs at night, disrupting sleep. As the disease progresses, hypoventilation can lead to dangerously low oxygen levels and respiratory failure, which can be life-threatening.

Individuals with Perry syndrome typically live for about 5 years after symptoms begin. Respiratory failure or pneumonia are the most common causes of death. Suicide is also a risk for those with this condition.

Inheritance:

Perry syndrome is inherited in an autosomal dominant manner. This means that having just one copy of the mutated gene in each cell is enough to cause the condition. Often, the affected person inherits the mutated gene from a parent who also has the condition. However, in some instances, the mutation occurs spontaneously in the gene and the person has no family history of Perry syndrome.