A Rare Case of Parkinson’ s Disease Associated With Heterozygous ATP13A2 Gene Mutation: What If There Are No Atypical Features with a Later Onset?
Objective: Autosomal recessive mutations in ATP13A2 gene is a rare cause of levodopa-responsive parkinsonism with atypical features of supranuclear gaze palsy, spasticity, dystonia, dementia, myoclonus,…Clinical Features of dj1 Gene Mutation Causing Parkinson’s Disease from Single Institution
Objective: Describe a detailed clinical and genetic evaluation of patients with Parkinson's disease secondary to DJ1 gene mutation Background: Inherited Parkinson's disease (PD) represents 5-10%…Clinical and genetic characteristics of PLA2G6-parkinsonism in southwest of China and a review of heterogeneity of phenotype and genotype between Asian and Caucasian patients
Objective: Objective: To summarize clinical characteristics, imaging features and genetic data of PLA2G6 mutant patients in southwest of China, and to investigate the heterogeneity between Asian and…GBA Mutation Profile in Parkinson’s Disease: Insights from a Movement Disorders Center in Brazil
Objective: To identify the prevalence of pathogenic variants of the GBA1 mutation among patients with parkinsonism who have undergone genetic testing. Background: GBA gene encodes…The NINDS Approach to Therapeutic Development for Ultra-Rare Neurological Disorders, Bridging Translational and Clinical Frontiers in Gene-based Therapy
Objective: To establish an innovative process for fast and efficient pathways of delivering gene-based therapy for ultra-rare neurological disorders from the lab to the clinic…Genetic Study of polymorphism of cytokines in Parkinson’s disease.
Objective: The aim of our study was to conduct a cohort that demonstrates genetic variations in cytokines genes involved in the physiopathology, the development and…Adding Parkinsonism to the Phenotypic Spectrum of FIG4-related diseases
Objective: To describe a phenotypic variant of FIG4-related diseases resulting in parkinsonism. Background: The FIG4 gene codes for P1(3,5)P2 phosphatase that plays an important role…Cardiovascular Risk Profile in Patients with Primary Familial Brain Calcification
Objective: To explore the cardiovascular risk profile of patients with Primary Familial Brain Calcification (PFBC) and Fahr’s syndrome. Background: PFBC, also known as Fahr’s disease,…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…The Landscape of Neurodegeneration with Brain Iron Accumulation in Indian patients: Lessons from a Multicentric Cross-sectional Study
Objective: To delineate clinical, molecular, and radiological landscape of patients with Neurodegeneration with Brain Iron Accumulation (NBIA) in a nationwide Indian cohort. Background: NBIAs are…
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