Hobbelink, J. (jet) (2017) Inherebility and genetics in essential tremor. thesis, Medicine.
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Abstract
Essential Tremor is the most frequently common tremor disorder. It is characterized by a bilateral postural and action tremor. Tremor is as a rhythmical, involuntary, oscillatory movement of a body part. In 97% of the patients, the hands are involved. Other body parts such as, the head, the voice and the legs can be involved as well. The prevalence is 0,9% in combined ages and in people above 65 years of age the prevalence is 5%. Essential Tremor can be both sporadic or familiar. There is growing suspicion that Essential Tremor is not a single entity but a group of disorders. Pedigree analysis shows that the tremor causing mutation is most probably dominant. However, only one rare disease causing mutation has been found untill this day. The aim of this project is to get more insight in the clinical presentation within and between families with a high incidence of Essential Tremor. This can be helpful with genetic testing in the future, because a targeted search for a disease causing mutation is possible if the patients are divided into different groups based on the clinical presentation. Another aim is to find out more about the inheritance patterns involved in essential tremor. Information on different aspects of the tremor was gathered with the use of a questionnaire, rating scales, pedigree drawing, videotaping and tremor registration using accelerometry and electromyography. Blood samples were taken for future testing as well. The results show that the clinical presentation of essential tremor within families is not very similar. Age at onset is similar within some families, but not in all families. Between families however, the age at onset differs. Tremor frequency or tremor rating scores do not show similarities within or between families. For other aspects such as response to medication or alcohol the number of patients included into the project turned out to be too small to draw any conclusions. Head tremor however, seems to cluster in families. This might be a great distinguishing factor based on which the patients can be divided in groups to enable an aimed search for a causative gene. The inheritance pattern involved in Essential Tremor seems to be autosomal dominant. In one family repeat expansion might play a role, but more research is needed before final conclusions can be drawn.
| Item Type: | Thesis (Thesis) |
|---|---|
| Supervisor name: | Supervisor: and Koning-Tijssen, Prof. Dr. M.A.J. de and Second Supervisor and Stouwe, Dr. A.A.M. van der and Dept of Neurology UMCG |
| Faculty: | Medical Sciences |
| Date Deposited: | 25 Jun 2020 11:07 |
| Last Modified: | 25 Jun 2020 11:07 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/2652 |
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