Journal of neurosurgery
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Journal of neurosurgery · Apr 2017
RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance.
OBJECTIVE Moyamoya disease (MMD) is a rare, genetically heterogeneous cerebrovascular disease. The authors conducted a genetic study of really interesting new gene (RING) finger protein 213 ( RNF213); actin alpha 2 ( ACTA2); BRCA1/BRCA2-containing complex subunit 3 ( BRCC3); and guanylate cyclase 1, soluble, alpha 3 ( GUCY1A3) as well as a clinical phenotype analysis in Chinese MMD patients to determine whether genetic differences are responsible for the different clinical features that appear in MMD in different ethnicities. METHODS A panel was designed to identify disease-causing mutations in MMD genes and those involved in related disorders ( RNF213, ACTA2, BRCC3, and GUCY1A3). ⋯ The spectrum of rare variants identified in Chinese MMD patients was diverse. Compared to patients without the rare variants in RNF213, the p. R4810K heterozygous patients exhibited different clinical features.
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Journal of neurosurgery · Apr 2017
ReviewComplication avoidance in laser interstitial thermal therapy: lessons learned.
OBJECTIVE Complications of laser interstitial thermal therapy (LITT) are underreported. The authors discuss how they have modified their technique in the context of technical and treatment-related adverse events. METHODS The Medtronic Visualase system was used in 49 procedures in 46 patients. ⋯ CONCLUSIONS Laser ablation treatment may be used for a variety of neurosurgical procedures for patients with tumors and epilepsy. While catheter placement and thermal treatment may be associated with a range of suboptimal operative and postoperative courses, permanent neurological morbidity is less common. The authors' institutional experience illustrates a number of measures that may be taken to improve outcomes using this important new tool in the neurosurgical arsenal.
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Journal of neurosurgery · Apr 2017
Case ReportsSingle-unit analysis of the human posterior hypothalamus and red nucleus during deep brain stimulation for aggressivity.
OBJECTIVE Deep brain stimulation (DBS) of the posterior hypothalamus (PH) has been reported to be effective for aggressive behavior in a number of isolated cases. Few of these case studies have analyzed single-unit recordings in the human PH and none have quantitatively analyzed single units in the red nucleus (RN). The authors report on the properties of ongoing neuronal discharges in bilateral trajectories targeting the PH and the effectiveness of DBS of the PH as a treatment for aggressive behavior. ⋯ The RN has a characteristic higher firing rate and a pattern of beta oscillations in the spike trains. The effect of the anesthetic administered should be considered when using microelectrode recordings. The results of this study, along with previous reports, suggest that PH DBS may be an effective treatment for aggression.
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Journal of neurosurgery · Apr 2017
CommentOutcome after conservative management or surgical treatment for new-onset epilepsy in cerebral cavernous malformation.
OBJECTIVE The aim of this study was to determine seizure outcome, functional outcome, and the withdrawal of antiepileptic drugs (AEDs) after conservative or surgical treatment of patients with new-onset cavernoma-related epilepsy (CRE). METHODS The authors conducted a retrospective comparative observational study of 79 consecutive patients, each with a single sporadic cerebral cavernous malformation (CCM) and new-onset CRE. RESULTS Forty-one patients underwent initial surgery (IS), and 38 patients underwent initial conservative (IC) treatment. ⋯ CONCLUSIONS Patients with CCM and new-onset CRE who underwent IS treatment showed better results in seizure control and the discontinuation of AEDs than the conservatively treated patients. Operative morbidity was comparable to the morbidity from symptomatic CCM hemorrhage in the conservative group. Half of the patients who started with conservative treatment underwent subsequent surgical treatment; however, a longer duration of epilepsy prior to surgery did not worsen postoperative seizure outcome.