Objective: To explore if patients with familial ET(FET) are clinically and demographically distinct from those with sporadic ET(SET).

Background: Essential tremor(ET) is the commonest tremor disorder. Approximately half of them have family history. However large comparative studies analysing the clinical characteristics with familial and sporadic ET are sparse in the literature.

Methods: A chart review of 250 consecutive patients with ET attending the neurology clinics of the National Institute of Mental Health and NeuroSciences, India, was done. A movement disorder specialist confirmed the diagnosis of ET in all patients using the National Institutes of Health collaborative genetic criteria. Clinical profile of all patients was analysed.

Results: Out of 250 patients with ET, 117 reported family history of ET and the rest were sporadic. Among those with FET, 75.2%(n=88) were male, 24.8% were female. The mean age at presentation was 46.4±15.7 years and the mean age at onset(AAO) of symptoms was 37.9±17.5 years. There was a bimodal distribution of AAO with first peak at 2nd decade and second peak at 5th. 78.63%(n=92) presented with upper limb tremors, 17% with cranial(head and voice) tremors, 0.034%(n=1) in each with combination of upper limb and head tremor, both upper and lower limb and none with lower limb alone. On examination voice tremor was present in 52.10%(n=61) and head tremor in 45.3%(n=53) with predominant no-no type. Out of 22 taking alcohol, 81.8% had a good response. Of those with SET, 60.9% were men and 39.1% were women. Bimodal distribution of the AAO was similar to FET.79.69%(n=106) had onset of disease with upper limb tremors, 17.29%(n=23) with cranial tremors, 0.0075%(n=1) each in both upper and lower limb, upper and head tremors, only lower limbs during onset. On examination voice tremor was observed in 45.9%(n=61) and head tremor in 42.9%(n=57) with predominant no-no type. Between both the groups significant correlation was seen with respect to male gender(familial>sporadic; P= 0.02). There was no statistically significant difference with respect to AAO, age of presentation, response to alcohol and prevalence of voice and head tremor.

Conclusions: Clinical profile of FET was not significantly different from those with SET. However longitudinal studies assessing the severity and progression of the disease may provide better insight into the natural course of FET and SET.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/are-patients-with-familial-et-distinct-from-those-with-sporadic-et-insight-from-250-patients/