Background: Essential tremor (ET) is considered as one of the most common neurological disorders. The etiology behind ET remains mostly unexplained. However, about half of the ET cases appeared to be a result of genetic mutation. One of the recently discovered genes that have been investigated in relation to ET is Teneurin Transmembrane Protein 4 (TENM4).
Case Presentation: A 27 year-old Saudi female patient, medically free was presented to the clinic with tremor. Her tremor began when the patient was 5 years old and progressed with time. The tremor was generalized and symmetrical involving the head, upper, and lower limbs at the same time, which were increased by the movement. The patient had difficulty in walking with poor balance. Genetic analysis was performed, whole-exome sequencing revealed a heterozygous missense mutation (c.6098C>T, p. Thr2033lle) found in TENM4. She was given a small dose of propranolol, which had shown significant improvement for her tremor.
Conclusion: A case of ET was presented, which was confirmed by genetic study as essential tremor-5, brain magnetic resonance imaging showed isolated cerebellar atrophy. The controversy in the studies demands further research to clarify the role of TENM4 mutation and its relationship with ET and cerebellar atrophy. Following this case report, it is suggested to conduct further genetic testing for TENM4 mutation in the remaining affected family members of this patient.
Key words: Essential tremor, TENM4, mutation, neurological disorder, case report
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