Identification of Compound Heterozygous and Novel Deep-Intronic TH Mutations in a Chinese Patient with Dopa-Responsive Dystonia
Objective: This study aims to delineate the genetic underpinnings of a case affected by dopa-responsive dystonia (DRD), characterized by novel compound heterozygous mutations within the…Slc2a13, a risk gene for Parkinson’s disease associated with Snca and Lrrk2
Objective: To exploit the potential function of the risk gene Slc2a13 in PD progression. Background: 越来越多的证据证实了总体遗传位点和候选基因对帕金森病的贡献，以及两个最确定的风险基因，即α-突触核蛋白（Snca）和富含亮氨酸的重复激酶2（Lrrk2）。Slc2a13 编码哺乳动物肌醇转运蛋白，被认为是一种群体依赖性风险基因。越来越多的证据支持这样一种观点，即 Slc2a13 活性的改变强调了 PD 的发展。剖析转运蛋白活性降低如何导致多巴胺能神经元变性和丧失，可能会进一步加深我们对功能的理解。 Method: A total of 338 cases…Long-read sequencing to identify unrevealed second hit in autosomal recessive Parkinson’s disease
Objective: Identify unrevealed variants in PRKN and PINK1 genes from young onset Parkinson’s disease (YOPD) patients. Background: Long-read sequencing has identified pathogenic repeats and structural…Assessing Genome-wide Genetic Risk for Parkinson’s Disease in European Sub-Populations Across the Global Parkinson’s Genetics Program and National Biobanks
Objective: To assess genome-wide genetic risk for Parkinson’s disease (PD) within and across genetically determined European ancestries (European, Ashkenazi Jewish, and Finnish) from the Global…Leveraging Large-Scale Proteomics to Identify Protein Quantitative Trait Loci and Causal Effects on Parkinson’s Disease
Objective: Integrate proteomics from the cerebrospinal fluid (CSF) and urine from the Parkinson’s Progression Markers Initiative cohort to prioritize the risk variants associated with Parkinson’s…Young onset Dystonia-Parkinsonism, Intellectual Disability & Mineral deposits in Basal ganglia – Think “RAB39B” mutation
Objective: Please consider RAB39B gene when encountering a young onset dystonia Parkinson phenotype alongside non-progressive intellectual disability and brain mineral deposits. This consideration is crucial…LRRK2 Gene Mutation in Parkinson’s Disease
Objective: We aim to describe the clinical characteristics of PD linked to an LRRK2 mutation. Background: One of the most common monogenic forms of Parkinson's…Spectrum of Movement Disorders in Vitamin B12 Deficiency: A Case Series from India
Objective: We present a case series of movement disorders associated with vitamin B12 deficiency Background: Vitamin B12 deficiency can cause multiple neuropsychiatric disorders like peripheral…PMM2 mutation
Objective: describe glycosylation type 1A PMM2 mutation presented as motor development regression and cognitive impairment proving to be a disease that should’ve been detected precociously.…Deep brain stimulation-evoked potentials as an avenue to optimize stimulation outcomes in Parkinson’s disease
Objective: Use deep brain stimulation (DBS)-evoked potentials recorded using dry-EEG electrodes to estimate stimulation outcome. Background: Subthalamic DBS effectively alleviates motor symptoms in Parkinson’s disease.…
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