Age of Onset and Choice of First-line Therapy in Essential Tremor Patients
Objective: The purpose of this study is to examine the effect of age of onset on the selection of initial medication for symptomatic management of…MRgFUS thalamotomy for essential tremor: Lesion location and clinical outcomes
Objective: To examine the clinical outcomes and their relationship with patients’ baseline demographic and clinical features and lesion characteristics at 6-month follow-up in ET patients.…Expanding the Neurogenetic Spectrum: A Case of DEPDC5 Mutation Presenting with Unilateral Tremor and Cognitive Decline
Objective: Here, we report a novel presentation of DEPDC5-related disorders in a 41-year-old patient with unilateral tremors and delayed cognitive decline. Background: DEPDC5 mutations are…Intermediate Expansion of MARCHF6 causes FAME3 without Epilepsy
Objective: To describe the first case of Familial adult myoclonic epilepsy 3 (FAME3) due to intermediate intronic expansion of MARCHF6. Background: FAME is an autosomal…Rare Variant Burden is Increased in Sporadic Late-onset Chinese Parkinson’s Disease Patients
Objective: We aim to study the rare variant burden in a panel of 29 Parkinson’s disease (PD) candidate genes (Table 1) in a cohort of…Exploring MAPT Haplotypes in Parkinson’s Disease in a Diverse Cohort: Insights from the Global Parkinson’s Genetics Program
Objective: To assess the frequency of H1/H2 haplotypes in MAPT across diverse ancestries from the Global Parkinson’s Genetics Program(GP2) and investigate their association with Parkinson's…Engagement of the Black and African American Community in Parkinson’s Genetic Research
Objective: Increase racial diversity in Parkinson’s disease (PD) genetic research by engaging Black and African American people living with PD Background: Advancements in understanding the…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…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%…Wilson’s Disease : A Senegalese Series of Seven Patients Followed at Pikine National Hospital Centre (Dakar-Senegal)
Objective: The aim of this study is to describe the epidemiological, diagnostic, therapeutic and evolutionary characteristics of Wilson's disease and to highlight the diagnostic and…
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