A5102983257- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Genomics and Rare Diseases
- Neurological diseases and metabolism
- Botulinum Toxin and Related Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Medical Imaging and Pathology Studies
- Spine and Intervertebral Disc Pathology
- Ginkgo biloba and Cashew Applications
- Functional Brain Connectivity Studies
- Spinal Hematomas and Complications
- Spinal Fractures and Fixation Techniques
- Dysphagia Assessment and Management
- Metalloenzymes and iron-sulfur proteins
- Alzheimer's disease research and treatments
- Vitamin K Research Studies
- Intracerebral and Subarachnoid Hemorrhage Research
- Facial Nerve Paralysis Treatment and Research
- Renal and related cancers
- Anomaly Detection Techniques and Applications
- Genetic Syndromes and Imprinting
Second Affiliated Hospital of Zhejiang University
2015-2024
Zhejiang University
2010-2011
Familial cortical myoclonic tremor with epilepsy is an autosomal dominant neurodegenerative disease, characterized by and epileptic seizures. Although four subtypes (types 1–4) mapped on different chromosomes (8q24, 2p11.1-q12.2, 5p15.31-p15.1 3q26.32-3q28) have been reported, the causative gene has not yet identified. Here, we report genetic study in a cohort of 20 Chinese pedigrees familial epilepsy. Linkage haplotype analysis 11 revealed maximum two-point logarithm odds (LOD) scores from...
This study investigated the risk factors for freezing of gait (FOG) in early stage Parkinson disease China, using a sample 248 patients who were followed 3 years. Part III Unified Disease Rating Scale and modified Hoehn-Yahr grading scale used to evaluate severity motor symptoms. Nonmotor symptoms assessed Hamilton Anxiety Scale, Depression (HAMD), Non-Motor Symptoms (NMSS). The end-point was presence FOG at end follow-up; with classified as freezers. analyzed first, second, third years...
Purpose To investigate the differences in spontaneous brain activity between Parkinson's disease (PD) patients with rapid eye movement sleep behavior disorder (RBD), PD without RBD, and normal controls, which may shed new light on neural mechanism of RBD. Materials Methods Eighteen 16 19 age‐ gender‐matched controls underwent clinical assessment functional magnetic resonance imaging (fMRI) a 3.0T scanner. Resting‐state fMRI scans were collected using an echo planar sequence. Amplitude...
Flow-matching models provide a powerful framework for various applications, offering efficient sampling and flexible probability path modeling. These are characterized by flows with low curvature in learned generative trajectories, which results reduced truncation error at each step. To further reduce curvature, we propose block matching. This novel approach leverages label information to partition the data distribution into blocks match them prior parameterized using same information,...
The GGC repeat expansion in the NOTCH2NLC gene has been identified as genetic cause of neuronal intranuclear inclusion disease (NIID). Recently, this was also reported to be associated with essential tremor (ET). However, some patients expansion, initially diagnosed ET, were eventually NIID. Therefore, controversy remains regarding clinical diagnosis these expansion-positive presenting tremor-dominant symptoms. This study aimed clarify phenotype who have gene.We screened for pathogenic...
Familial cortical myoclonic tremor with epilepsy is a rare syndrome. Herein, we report on nine Chinese familial pedigrees to delineate its clinical and neurophysiological features.Detailed data were obtained. Somatosensory evoked potential amplitudes profile analyzed using multilevel statistical models. Age-at-onset anticipation was Kaplan-Meier survival analysis.Fifty-five patients interviewed directly, whose mean age at onset of generalized tonic-clonic seizures 31.0 ± 8.3 36.0 7.9 years....
Intronic (TTTCA)n insertions in the SAMD12, TNRC6A, and RAPGEF2 genes have been identified as causes of familial cortical myoclonic tremor with epilepsy.To identify cause epilepsy pedigrees without RAPGEF2.Repeat-primed polymerase chain reaction, long-range Sanger sequencing were performed to existence a novel (TTTGA)n insertion. Targeted long-read was confirm accurate structure insertion.We expanded intronic insertion at same site previously reported SAMD12. This cosegregated 1 Chinese...
Abstract Background Intronic pentanucleotide insertion in the sterile alpha motif domain‐containing 12 gene was recently identified as genetic cause of familial cortical myoclonic tremor with epilepsy type 1. Objectives We thereafter conducted a multimodal MRI research to further understand Methods enrolled 31 patients carrying heterozygous pathogenic intronic and age‐ sex‐matched healthy controls. compared metrics, including voxel‐based morphometry, fractional anisotropy diffuse tensor...
Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant syndrome. Four loci, including 8q24 (FCMTE1), 2p11.1‐q12.2 (FCMTE2), 5p15.31‐p15.1 (FCMTE3), and 3q26.32‐3q28 (FCMTE4) were previously reported. Herein, we report a new FCMTE1 pedigree from Chinese population its clinical genetic study results. Whole genome scan was performed to identify the causative gene region copy number variants. Whole‐exome sequencing used gene. There twelve affected members alive in this...
Recently, the pathogenic and intermediate GGC repeat expansion in NOTCH2NLC was detected Parkinson's disease (PD). However, detailed clinical, neuroimaging, pathological information of clinically diagnosed PD patients with remains scarce. Thus, we aimed to elucidate characteristics carrying NOTCH2NLC.The screened 941 sporadic 244 unrelated probands. Comprehensive assessments were performed three NOTCH2NLC. The length estimated using CRISPR/Cas9-based targeted long-read sequencing.The (two...
General paresis is considered to be a "treatable" dementia, in which early diagnosis and treatment play very important role. In recent years, its occurrence might have increased significantly due the increasing incidence of syphilis. The authors report five cases general order draw attention this dementia.
Abstract Background Biallelic mutations in the MYORG gene were first identified as cause of recessively inherited primary familial brain calcification. Interestingly, some heterozygous carriers also exhibited calcifications. Objectives To further investigate role single development Methods A nation‐wide cohort Chinese calcification probands was enrolled from March 2016 through September 2019. Mutational analysis performed 435 who negative for other four known calcification–causative genes (...
Bell's palsy is a peripheral facial of sudden onset. The etiology unknown and hereditary components may play role in familial recurrent palsy. We report three families which eight patients had total 12 episodes typical pathophysiology discussed.
Intraventricular hemorrhage (IVH) may occur as an isolated event from primary ventricular bleeding or a complication of brain another etiology. It is associated with high mortality and morbidity. The underlying risk factors include hypertension aneurysms, among others. However, not all the exact etiologies are known. In this study, case 24-year-old man who suffered headache decline in memory has been reported. A computed tomography scan suggested diagnosis spontaneous intraventricular...
Objective Progressive supranuclear palsy (PSP) involves a variety of visual symptoms that are thought to be partially caused by structural abnormalities the retina. However, relationship between retinal changes, disease severity, and intracranial alterations remains unknown. We investigated distinct thinning patterns their with clinical severity in PSP cohort.Methods enrolled 19 patients (38 eyes) 20 age-matched healthy controls (40 eyes). All participants underwent peripapillary macular...
Although previous imaging studies have reported cerebellar gray matter loss in patients with familial cortical myoclonic tremor epilepsy (FCMTE), the corresponding white alterations remain unknown. We investigated structural changes FCMTE1 and compared them clinical electrophysiological features.We enrolled 36 carrying heterozygous pathogenic intronic pentanucleotide insertions SAMD12 gene 52 age- sex-matched healthy controls. Diffusion tensor imaging-derived metrics, including fractional...
We report an extremely rare case involving a posterior arch anomaly of the atlas, causing vertebral artery dissection (VAD) induced circulation stroke. A 16-year-old girl was admitted to hospital because new onset dizziness. VAD related multiple infarction in revealed. The congenital along with instability atlantoaxial joint, were discovered accidentally during follow-up. This is first ischemic stroke atlantal aplasia and instability. Although rare, it reminds us that investigation...
Dopa-responsive dystonia (DRD) comprises a heterogeneous group of movement disorders. A limited number studies Chinese patients with DRD have been reported. In the present study, we investigated clinical and genetic features 12 families. Point mutation analysis GTP-cyclohydrolase I (GCH1), tyrosine hydroxylase (TH) sepiapterin reductase (SPR) genes was conducted by direct sequencing. addition, multiplex ligation-dependent probe amplification targeting GCH1 TH performed in "mutation-free"...