Paroxysmal Kinesigenic Choreoathetosis - Pathophysiology

Pathophysiology

Currently the pathophysiology of PKD is not fully explained. A few mechanisms have been suggested thus far:

1. GABA dysregulation
2. Abnormal breakdown of dopamine in the basal ganglia
3. Dysfunction of the substantia nigra
4. A form of epilepsy

Multiple methods are being used to study the potential brain abnormalities of individuals with PKD compared with “normal” individuals. These methods include SPECT studies, fMRI studies, and diffusion tensor imaging. The main problem with many of the studies concerned with the pathophysiology of the disorder is the small sample size. Because the studies normally only include about 7-10 patients with PKD, the results cannot be generalized to the entire population of patients. However, the studies do bring up possibilities for further study.