Which are the causes of Paroxysmal Kinesigenic Choreathetosis / Dyskinesia?

Paroxysmal Kinesigenic Choreathetosis/Dyskinesia (PKC/PKD) is a rare neurological disorder characterized by sudden, brief episodes of involuntary movements. These episodes, known as paroxysms, can be triggered by sudden movements or changes in posture. While the exact cause of PKC/PKD is not fully understood, several factors have been identified as potential contributors to the development of this condition.

Genetic Factors: Research suggests that PKC/PKD may have a genetic basis. In fact, it is often inherited in an autosomal dominant pattern, meaning that a person has a 50% chance of inheriting the condition if one of their parents is affected. Mutations in certain genes, such as PRRT2, have been associated with PKC/PKD. These genetic abnormalities may disrupt the normal functioning of the brain, leading to the characteristic choreathetoid movements.

Abnormal Brain Excitability: PKC/PKD is believed to involve abnormal excitability of certain areas of the brain, particularly the basal ganglia. The basal ganglia are responsible for regulating movement and are involved in the coordination of motor activities. It is thought that an imbalance in the neurotransmitters or abnormal electrical activity in this region may contribute to the development of PKC/PKD.

Triggering Factors: Paroxysms in PKC/PKD are often triggered by sudden movements, such as standing up from a seated position or starting to walk. Emotional stress, anxiety, and fatigue can also act as triggers. The exact mechanism by which these triggers induce the paroxysms is not well understood, but it is believed that they may further disrupt the already abnormal brain excitability, leading to the involuntary movements.

Environmental Factors: While the primary cause of PKC/PKD is genetic, certain environmental factors may influence the expression and severity of the condition. For example, some individuals with PKC/PKD have reported an improvement in symptoms when taking antiepileptic medications, such as carbamazepine. This suggests that the condition may share some similarities with epilepsy and that certain medications can help regulate the abnormal brain activity.

Other Factors: In some cases, PKC/PKD may be associated with other neurological conditions, such as epilepsy or migraine. This suggests that there may be overlapping mechanisms or shared genetic factors between these disorders. However, more research is needed to fully understand the relationship between PKC/PKD and these other conditions.

In conclusion, Paroxysmal Kinesigenic Choreathetosis/Dyskinesia is a rare neurological disorder that is likely caused by a combination of genetic and environmental factors. Genetic mutations, abnormal brain excitability, triggering factors, and potential interactions with other neurological conditions may all play a role in the development of PKC/PKD. Further research is needed to unravel the complex mechanisms underlying this condition and to develop more effective treatments.