EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.

OBJECTIVES: Juvenile myoclonic epilepsy (JME) is a common form of generalized epilepsy with an important genetic component. This cohort study aimed to examine the frequency of EFHC1 gene variants in Turkish JME patients and a healthy control group and evaluate the association between these mutations and disease risk. METHODS: We screened 72 JME patients with a mean age of 31.8 ± 9.9 (20-65) years and 35 controls with a mean age of 29.1 ± 7.6 (17-50) years from southern Turkey using direct sequencing analyses. RESULTS: EFCH1 single nucleotide variants were detected in 24 of 72 JME patients and 3 of 35 controls. The most common mutations were R182H in JME patients (p = 0.010) and 3'UTR in the control group (p < 0.001). The R182H mutation is a common variant in JME (95 % CI: 1.232-76.580, p = 0.031) and the 3'UTR mutation may be associated with lower risk of JME in the Turkish population (95 % CI: 13.89-166.67, p < 0.001). SIGNIFICANCE: Our results indicate that EFHC1 gene variants carry a risk for JME and the 3'UTR variant may have a protective role against JME in the Turkish population. Screening for other genes is needed to further clarify the genetic inheritance of JME in Turkish patients.

Which factors affect phenoconversion in isolated rapid eye movement sleep behavior disorder?

AIM: Isolated REM sleep behavior disorder (IRBD) is characterized by loss of the normal atonia of REM sleep. Patients with IRBD are at substantial risk of developing the synuclein-related neurodegenerative diseases (NDD). Few predictors of phenoconversion (from IRBD to NDD) have been identified such as age >65 years, hyposmia, constipation, elevated Epworth sleepiness scale (ESS). We aimed to detect rate and risk factors of phenoconversion. METHOD: The study designed as retrospectively. NDD was developed in 18 (27.27%) patients while NDD wasn't developed in 48 (72.73%) patients after ten years. The data of the first visit (age, gender, hyposmia, constipation, ESS, comorbidities, physical/neurological examinations, laboratory, and polysomnography) were compared between NDD (n:18) and IRBD (46) groups. The statistical program IBM SPSS Statistics Version 20.0 was used for all analyzes. The threshold for statistical significance for each test was set at 0.05. RESULTS: Although, most first-visit data (age, gender, hyposmia, constipation, ESS, laboratory, polysomnography) were not different between NDD (n:18) and IRBD (n:48) groups, diabetes mellitus (DM) frequency (p:0.021), mean duration of DM (0.027), chest circumference (p:0.017), and hip circumference (p:0.045) were found higher in NDD than IRBD. If the risk of phenoconversion calculated by logistic regression analysis was different only in terms of DM frequency (p:0.030) [odds ratio: 4.909 (1.17-20.19)]. CONCLUSION: The present study showed that the phenoconversion rate for ten years is 27.27%, and IRBD patients with diabetes mellitus increase the phenoconversion risk nearly five times.