CHMP2B frontotemporal dementia is a form of frontotemporal dementia disorders (FTDs). FTDs are caused by degeneration of cells in the front (frontal) or side (temporal) regions of the brain. This form is caused by an error in the CHMP2B gene. CHMP2B FTD primarily affects personality, language and behavior. Symptoms usually begin in a person's 50’s or 60’s and survival after onset of symptoms may range from 3 to 21 years. Changes in personality and behavior are the most common early signs and include inappropriate emotional responses, loss of motivation, lack of personal hygiene, difficulty with social interactions, and restlessness. Speech and language gradually becomes more difficult. A few years after initial symptoms, movement becomes affected which includes tremors, muscle spasms and rigidity. Eventually, affected individuals become unable to walk, communicate or care for themselves. Diagnosis is based on a complete physical and cognitive evaluation and family history. Genetic testing to confirm the genetic change in the DNA may be available. Although there is presently no cure for CHMP2B FTD, research is ongoing. If you or a family member has been diagnosed with CHMP2B FTD, talk with your doctor or specialist about the most current treatment options.
Frontotemporal dementia due to CHMP2B gene changes is a rare cause of FTD. It is inherited or passed through families in an autosomal dominant manner. This means that only one copy of the changed gene is needed to cause the symptoms. In most cases, one parent has the disorder and passes the changed gene onto their child. Since symptoms do not onset until later in life, most affected people do not know they will have the condition until after childbearing years. Each child of an affected individual has a 50% chance of inheriting the condition. A genetic counselor can provide a better understanding of the underlying genetic cause and recurrence risks.