Phase 1 study of safety and preliminary efficacy of intranasal transplantation of human neural stem cells (ANGE-S003) in Parkinson's disease.

Background: Intranasal transplantation of ANGE-S003 human neural stem cells showed therapeutic effects and were safe in preclinical models of Parkinson's disease (PD). We investigated the safety and tolerability of this treatment in patients with PD and whether these effects would be apparent in a clinical trial.

Methods: This was a 12-month, single-centre, open-label, dose-escalation phase 1 study of 18 patients with advanced PD assigned to four-time intranasal transplantation of 1 of 3 doses: 1.

Identification of Variants in Chinese Dopa-Responsive Dystonia Patients and Long-Term Outcomes.

Dopa-responsive dystonia (DRD) is a movement disorder that is highly clinically and genetically heterogeneous. Our study summarizes clinical characteristics and long-term outcomes in patients with dopa-responsive dystonia with the aim of obtaining further knowledge on this disorder. Patients who met DRD genetic diagnostic criteria through whole-exome sequencing and took levodopa for over 3 years were included in our study.

MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies.

Mitochondrial diseases are characterized by considerable clinical and genetic heterogeneity. Mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS) and Leigh syndrome (LS) are both established mitochondrial syndromes; sometimes they can overlap. A retrospective observational cohort study was done to analyze the clinical manifestations, biochemical findings, neuroimaging and genetic data, and disease outcomes of 14 patients with identified MELAS/LS overlap syndrome.

Dissociative Tremor Response with Pallidal Deep Brain Stimulation in Parkinson's Disease.

Background: Pallidal and subthalamic targets are commonly used for deep brain stimulation in Parkinson's disease (PD), with similar efficacy for resting tremor control. However, neuromodulatory effects on kinetic and postural tremor in PD is less clear.

Case Report: We present a 67-year-old PD patient with marked dissociative tremor response following pallidal neuromodulation.

Paraneoplastic cerebellar degeneration associated with anti-protein kinase Cgamma antibodies in a Chinese patient.

Anti-protein kinase Cgamma (anti-PKCγ) antibodies are rare onconeural antibodies associated with paraneoplastic cerebellar degeneration (PCD). To date, only two patients with PCD and anti-PKCγ antibodies have been reported. Here, we report a Chinese patient with PCD and anti-PKCγ antibodies.

Non-motor Symptoms in Chinese Patients With Isolated Generalized Dystonia: A Case-Control Study.

Previous studies have indicated that non-motor symptoms are primary problems in focal dystonia, but limited data are available about non-motor problems and their correlation with motor severity in generalized dystonia (GD). In the present study, we performed a case-control study and enrolled isolated inherited or idiopathic GD patients and age- and sex-matched healthy controls (HC). Clinical characteristics, motor symptoms, non-motor problems, including psychiatric co-morbidity, sleep problems, fatigue, and quality of life (QoL) were assessed in both groups using various rating scales and assessments.

Mutations in Chinese Dystonia: A Genetic Screening Study Using Next-Generation Sequencing.

Dystonia-24 (DYT24) is a monogenic autosomal dominant dystonia caused by mutations in the gene ANO3, which has shown phenotypic and genotypic heterogeneity according to previous reports. To screen and identify ANO3 mutations in a cohort of patients with dystonia in China and to expand the spectrum of DYT24. This study screened ANO3 mutations in 187 Chinese dystonia patients using next-generation sequencing (NGS).

Biopsy histopathology in the diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

Aim: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is an inherited rare disease affecting young adults. We present the clinical, imaging, and neuropathological results of our case series, emphasizing biopsy histology combined with clinical information will increase the accuracy of early diagnosis.

Methods: In total, 4 females and 2 male ALSP patients with onset at ages 24-45 years were enrolled.

Identification of Novel Variants in Chinese Dystonia Patients via Whole-Exome Sequencing.

Dystonia is a movement disorder with high clinical and genetic heterogeneity. Recently mutations in lysine-specific histone methyltransferase 2B () gene have been reported to be associated with early-onset progressive dystonia. We performed whole-exome sequencings (WES) in a cohort of early-onset dystonia patients from China.

Targeted gene capture sequencing in diagnosis of dystonia patients.

Background: Dystonia is a movement disorder with high clinical and genetic heterogeneity. Molecular diagnosis is important for an accurate diagnosis of dystonia. Targeted gene capture sequencing has been an effective method for screening multiple candidate genes simultaneously.

Pallidal Deep Brain Stimulation in Patients With Chorea-Acanthocytosis.

Introduction: Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disorder caused by the mutation of gene VPS13A. Deep brain stimulation of ChAc has made substantial progress in the recent decades. However, the reports were scattered across centers and performed by different neurosurgeons.

Subthalamic Nuclei Stimulation in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN).

Introduction: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disease that leads to extrapyramidal symptoms, such as dystonia, ataxia, dysarthria, and involuntary movements. Treatment of PKAN with deep brain stimulation (DBS) has been reported, but mainly focuses on targeting the globus pallidus internus (GPi). Subthalamic nuclei (STN) may also be a potential target for treatment of PKAN.

Chorea and parkinsonism associated with autoantibodies to IgLON5 and responsive to immunotherapy.

Encephalopathy associated with autoantibodies to IgLON5 is a novel syndrome characterized by a distinct sleep disorder and brain-stem involvement. Since the initial description of this encephalopathy in 2014, only a few additional patients have been reported (Simabukuro et al., 2015).

Brain-derived neurotrophic factor Val66Met polymorphism is not associated with primary dystonia in a Chinese population.

Background: Brain-derived neurotrophic factor (BDNF) is a modulator of synaptic and neural plasticity. Considering the association between dystonia and abnormal sensorimotor cortex plasticity, BDNF may be a candidate gene that confers susceptibility to dystonia. However, the association between Val66Met polymorphism of BDNF gene and primary dystonia is controversial.

Clinical implications of microsatellite instability and MLH1 gene inactivation in sporadic insulinomas.

Context: The molecular pathogenesis of sporadic insulinomas is unknown. There is a lack of biomarker to distinguish benign and malignant form of insulinoma.

Objective: Our objective was to confirm the occurrence of microsatellite instability (MSI) in insulinomas, to identify alterations of mismatch repair (MMR) genes in the tumors, and to evaluate the possibility to distinguish benign and malignant insulinoma or to predict the clinical outcome of patients with these alterations.

Chromosome 1q loss of heterozygosity frequently occurs in sporadic insulinomas and is associated with tumor malignancy.

The pathogenesis of sporadic insulinomas is not clear, and there are no reliable genetic determinants that are useful to distinguish malignant and benign forms of this tumor. It was reported that 1q LOH might contribute to pathogenesis in gastrinomas and was correlated with tumor progression. However, little data are available on 1q LOH in sporadic insulinomas.