Lethargic mutant mice carry a mutation in the CCHB4 gene, which encodes the beta4 subunit of voltage-regulated calcium channels. These mutants have been shown to display a complex neurobehavioral phenotype that includes EEG discharges suggestive of absence epilepsy, chronic ataxia, and hypoactivity. The current studies demonstrate a fourth element of their phenotype, consisting of transient att...

Primary ciliary dyskinesia (PCD) is a genetic disorder of cilia structure and function, chronic infections of the respiratory tract, fertility problems and disorders of organ laterality. Establishing a definitive diagnosis can be challenging, requiring a compatible phenotype and detection of ciliary functional and ultra-structural defects, along with newer screening tools such as nasal nitric o...

Varenicline (Chantix[R]) is a nicotinic acetylcholine receptor partial agonist used to aid smoking cessation. Adverse psychiatric and behavioral effects of the drug are recognized and national drug monitoring has included reports of tardive dyskinesia, but no cases have been described in the literature. We now report the first two cases of varenicline-related withdrawal emergent dyskinesias.

L-dopa is the most effective, currently available treatment for Parkinson's disease (PD), but it leads to the development of involuntary movements known as L-dopa-induced dyskinesia (LID) in the majority of patients after long-term use. Both gene and cell therapy approaches are the subject of multiple ongoing studies as potential ways of relieving symptoms of PD without the complication of dysk...

Paroxysmal non-kinesigenic dyskinesia is a very rare movement disorder. Few cases have been reported in the literature so far. We present a 40-year-old man with non-kinesigenic paroxysmal dyskinesia, which was initially diagnosed as a psychogenic disorder. This case highlights the varied presentation of this condition and an excellent response to clonazepam.

Five healthy volunteers and six patients with Parkinson's disease (PD) ate 250 g cooked broad beans after 12 hours without treatment. During the next four hours a substantial clinical improvement was noted, three patients showed severe dyskinesias, and plasma levodopa concentrations rose.

The units of the central nervous system controlling voluntary movement are described and the roles of the motor and sensory cortex, of the basal ganglia and cerebellum and of the final common loop are outlined. The pathophysiology underlying disturbances of movement, power and tone of the limbs is discussed, with particular reference to the more common dyskinesias.