GNAL mutations (DYT25) have lately been identified as the firstly proven cause of focal adult-onset dystonia. We report here a new mutation in the GNAL gene in two siblings with dystonia. The new mutation is called NM 001,142,339:c.97C > T. Our research emphasizes the possible effects of new mutation on disease risk and the significance of genetic tests for GNAL mutations in confirming the molecular diagnosis.

A significant proportion of patients with chorea-acanthocytosis (ChAc) fail to respond to standard therapies. Recent evidence suggests that globus pallidus internus (GPi) deep brain stimulation (DBS) is a promising treatment option; however, reports are few and limited by sample sizes. We conducted a systematic literature review to evaluate the clinical outcome of GPi-DBS for ChAc. PubMed, Embase, and Cochrane Library databases were searched for relevant articles published before August 2021. The improvement of multiple motor and nonmotor symptoms was qualitatively presented. Improvements in the Unified Huntington's Disease Rating Scale motor score (UHDRS-MS) were also analyzed during different follow-up periods. A multivariate linear regression analysis was conducted to identify potential predictors of clinical outcomes. Twenty articles, including 27 patients, were eligible. Ninety-six percent of patients with oromandibular dystonia reported significant improvement. GPi-DBS significantly improved the UHDRS-motor score at < 6 months (p < 0.001) and ≥ 6 months (p < 0.001). The UHDRS-motor score improvement rate was over 25% in 75% (15/20 cases) of patients at long-term follow-up (≥ 6 months). The multiple linear regression analysis showed that sex, age at onset, course of disease, and preoperative movement score had no linear relationship with motor improvement at long-term follow-up (p > 0.05). GPi-DBS is an effective and safe treatment in most patients with ChAc, but no reliable predictor of efficacy has been found. Oromandibular dystonia-dominant patients might be the best candidates for GPi-DBS.

Objective To evaluate the improvement of motor, anxiety, and depression in patients with blepharospasm with the use of botulinum toxin type A (BTX-A) and repetitive transcranial magnetic stimulation (rTMS). Methods A total of 63 BEB patients accompanied by anxiety/depression were enrolled, among which 28 patients were treated with the injection of botulinum toxin type A (BTX-A) alone, while 35 patients were treated with BTX-A injection combined with rTMS. All patients were followed up for 6 months, and the overall efficacy was evaluated. Results BTX-A alone treatment and combined rTMS treatment could both significantly improve the symptoms of patients, and the effective rate was 92.86% and 94.29%, respectively. The duration of efficacy was significantly longer in the combined rTMS treatment group (16.89±3.39 weeks) than in BTX-A treatment group (13.04±3.48 weeks). After treatment, SDS score of BTX-A treatment group and combined rTMS treatment group was 49.69±7.90 and 49.46±6.73, respectively, and there was no significant difference between the two treatment groups; SAS score of BTX-A treatment group and combined rTMS treatment group was 53.88±7.34 and 48.79±6.62, respectively, and there was significant difference between the two treatment groups. Conclusion Compared to BTX-A alone treatment, BTX-A combined with rTMS can effectively improve the effect of BTX-A, prolong the duration of blepharospasm relief, and significantly reduce depression and anxiety in patients with BEB.

Objective: This study aimed to screen gene mutations in Chinese patients with benign essential blepharospasm (BEB) to understand its etiology. Methods: Twenty BEB patients diagnosed by clinical manifestations between April 2015 and October 2015 were enrolled. All the cases were investigated by questionnaires about general conditions, social behavioral factors, environmental factors, psychological factors, genetic factors, and previous diseases. In each patient, a total of 151 genes related to movement disorders were analyzed by second-generation sequencing. Results: Two patients had a family history of BEB, and they had SYNE1 and Cdkn1A-interacting zinc finger protein 1 (CIZ1) mutation, respectively. We found the SYNE1 mutation in seven patients, the CIZ1 mutation in two patients, the CACNA1A mutation in two patients, the LRRK2 mutation in two patients, and the FUS mutation in two patients. The C10orf2, TPP1, SLC1A3, PNKD, EIF4G1, SETX, PRRT2, SPTBN2, and TTBK2 mutations were found in only one patient, respectively, while not any mutation in the 151 genes were found in two patients. Some patients had mutations in two genes. Conclusion: Genetic factors, especially SYNE1 and CIZ1 mutations, contribute to the etiology of BEB.