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Background: KMT2B-related dystonia is a recently discovered hereditary dystonia that mostly occurs in childhood. This dystonia usually progresses to generalized dystonia with cervical, cranial, pharynx and larynx involvement. Our study summarizes genotype-phenotype features and deep brain stimulation (DBS) efficacy observed with KMT2B-related dystonia patients in China.Methods: We identified 20 patients with KMT2B variations from dystonia samples with a gene panel and whole exome sequencing. Genetic, clinical and treatment analyses of these patients with KMT2B mutations were further conducted.Results: We summarized the genotype and phenotypic characteristics of KMT2B-related patients in China, including 16 sporadic patients and 3 pedigrees (including 4 patients). Thirty-five percent (7/20) of patients had been published previously. The age of onset was between 1 month and 24 years (average 6.90 ± 5.72 years). Sixty-five percent (13/20) of patients had onset from lower limbs. Upper limbs or larynx accounted for 15% (3/20) and 20% (4/20) of patients, respectively. In the same family, male patients tended to have more severe symptoms than female patients. Carriers of KMT2B variants may present with nonmotor symptoms without dystonia. Abnormal endocrine metabolism could also be seen in our patients, including advanced bone age that had never been reported previously. Nine of our patients underwent DBS surgery. The mean follow-up time was 4.9 (range 1.3-16) months after DBS, and perceptible improvement of clinical symptoms were observed.Conclusions: The genotypic and phenotypic spectra of Chinese KMT2B-related dystonia patients were further expanded. DBS surgery might be the preferred option for severe KMT2B-related dystonia patients till now. [ABSTRACT FROM AUTHOR]

Background: Although intracerebral hemorrhage is the most feared complication of deep brain stimulation (DBS) surgery, cerebral ischemic events in association with DBS surgery have only rarely been described. We therefore evaluated the role of intraoperative MRI (iMRI) for early identification of cerebral ischemic events during DBS procedures and determined how ischemic infarctions affect patients over acute and long-term periods., Methods: Between January 2010 and December 2017, 1160 DBS electrodes were implanted in 595 patients at Chinese People's Liberation Army General Hospital, with the help of iMRI. The iMRI was performed in all patients after implantation, to define the accuracy of lead placement and detect complications. A CT scan was performed on postoperative days 1 to 7., Results: The iMRI showed that cerebral ischemic changes happened in nine (1.51% of patients, 0.78% of leads) patients. Only two (0.34%) of nine patients had an ischemic infarction in the basal ganglia, while seven (1.18%) had cortical ischemia. Six (67%) of the nine patients had long-term complications, two with mild hemiparesis, two with seizures, one with language dysfunction, and one with memory loss. Of those with a cortical ischemic infarction, only three (42.86%) of seven patients had no long-term complications. Long-term follow-up imaging showed that not all the patients recovered normal morphological structure in the area of ischemic foci. The factors of sex, age, target, and anesthesia were not related to ischemic events. In six (66.7%) cases, the entry point on the cortex or the path was not ideal., Conclusions: Intraoperative ischemic events are not uncommon in DBS surgery. Ischemia can cause serious permanent complications, and regions subject to severe ischemia cannot be restored; it is therefore necessary to pay careful attention to any signs of ischemia. iMRI objectively provides the basis for early diagnosis of intraoperative ischemic infarction, providing guidance for follow-up treatment. The deviation in the entry point on the cortex or in the path resulted in vascular injury; it may be the key cause of ischemic events during DBS procedures.