SNP Shot: Genomic Insights

Progressive supranuclear palsy (PSP) is a neurological condition that impacts movement, eyesight, speech, and cognitive function. Typically, the first symptoms appear in middle to late adulthood, often during a person's sixth decade. While survival after diagnosis is typically 5 to 9 years, some individuals with PSP have lived for over 10 years.

The most prevalent initial symptoms of PSP involve balance issues and recurring falls. Individuals affected experience difficulties with walking, including poor coordination and an unstable, staggering walk. As the disease advances, other motor problems emerge, such as unusually slow movement (bradykinesia), lack of coordination, and rigidity of the torso muscles. These issues intensify over time, generally leading to the need for wheelchair assistance.

A defining feature of PSP is abnormal eye movement, which usually arises several years after the initial motor difficulties. Difficulty moving the eyes up and down (vertical gaze palsy) is a key sign of the condition. Additional eye-related problems may include trouble opening and closing eyelids, infrequent blinking, and eyelid retraction. These issues can result in blurry vision, heightened light sensitivity (photophobia), and a fixed, staring expression.

Other signs of PSP include slow, slurred speech (dysarthria) and difficulty swallowing (dysphagia). Many patients also experience changes in personality and behavior, such as a lack of interest and motivation (apathy). Cognitive impairments, like problems with attention, planning, and problem-solving, also develop. As these cognitive and behavioral issues become more severe, affected individuals increasingly need assistance with personal hygiene and daily activities.

Inheritance:

Most PSP cases occur randomly in individuals with no family history of the condition. However, some PSP patients have relatives with similar conditions, such as parkinsonism and dementia. In instances where PSP runs in families, it may follow an autosomal dominant inheritance pattern. This means that only one copy of a mutated gene in each cell is necessary for the disorder to develop.