These repeats may be responsible for other disorders associated with 22q11 rearrangements. As in VCFS it is important to look at the the interval containing the breakpoint and determine the molecular basis of the rearrangment. In addition mouse models are being made. Essential Tremor Essential tremor is the most common movement disorder in humans occuring 0.3 to 1.7 percent of the general population. It is characterized by postural tremor, most commonly of the arms and hands, in the absence of other clinical findings.
Familial evidence indicate that essential tremor is an inherited disease.
Linkage has been found, but not confirmed, to 2p22-25 and 3p13. Since this is a common disorder it is possible that there are additional loci. We are preforming linkage analysis on additional families to determine linkage. After linkage is determined and we narrow down the interval a physical map will be made. Subsequently mutation analysis will be performed in order to determine the gene involved in the etiology of Essential tremor.