Article

Essential tremor is clinically defined but there is increasing evidence that it
is not a unique entity. Its pathophysiology has been studied with many methods
but may also vary between subtypes. Neurophysiologically, there is strong
evidence that a specific cerebello-thalamo-cortical loop is abnormally
oscillating. The cause of its uncontrolled oscillation is not yet understood. The clear proof of a degenerative cause is still lacking and abnormal receptors or
other causes of altered non-progressive functional disturbance cannot be
excluded. Strong evidence supports the major involvement of the cerebellum and
there is ample evidence that GABA is the main neurotransmitter involved in the
pathophysiology in ET. Genetics have provided so far only a few rare subtypes
which are due to specific mutations but there is no doubt that it is mostly a
hereditary condition. There is evidence that the large subgroup of late onset
tremor is a separate condition and this tremor is an independent risk factor for
earlier mortality and comes with signs of premature aging (aging-related tremor).
It will be important to improve phenotyping of patients in more detail possibly
to include not only features of the tremor itself but also other clinical
assessments like force measurements or cognitive testing. Based on these
variables, we may be able to better understand the presumably different
mechanisms underlying different variants of the disease.
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