SNP Shot: Genomic Insights

Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a brain disorder that worsens over time, leading to encephalopathy, a condition where the brain doesn't function properly. Key features include dementia (a decline in mental abilities) and seizures. Initially, individuals may struggle with focus and concentration, and they may exhibit repetitive behaviors in thoughts, speech, or movements. As FENIB progresses, personality shifts occur, and abilities like judgment, understanding, and memory deteriorate. Eventually, those affected become unable to manage daily tasks and typically need full-time care.

The severity and the age when FENIB symptoms begin to appear can differ. In more severe forms, dementia is accompanied by seizures and myoclonus (sudden, involuntary muscle jerks). These symptoms can start as early as the teenage years. In milder cases, a gradual decline in cognitive function begins later in life, typically in a person's forties or fifties.

Inheritance:

FENIB follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the disorder. Often, an individual with FENIB has inherited the condition from a parent who also has it.