OPTN gene associated with corticobasal syndrome: a novel multi-exon deletion and literature review
Objective: To describe a novel case of OPTN multiexon deletion causing a peculiar CBS-ALS phenotype. Background: While traditionally classified as distinct clinical entities, corticobasal syndrome…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…Genome-Wide Association Study revealing novel risk loci associated with Age at Onset of Parkinson’s Disease
Objective: This study aimed to determine single-nucleotide polymorphisms (SNPs) associated with AAO in Korean PD patients. Background: Age at onset (AAO) of Parkinson’s disease (PD)…Association of polygenic risk score of the LRRK2 gene for Parkinson’s disease with lysosomal hydrolase activities in the Russian Population based on genetic profile and established risk factors
Objective: To studied a previously proposed polygenic risk scores (PRSs) for PD selected for the LRRK2 gene in a genetic data set of Russian population…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…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.…Jaw Clonus Masquerading as Jaw Tremor in a case of Amyotrophic Lateral Sclerosis (ALS)
Objective: To highlight the importance of distinguishing jaw clonus from jaw tremor which can be a useful sign in clinical diagnosis by reporting a case…A better understanding of Paediatric Paroxysmal Movement Disorders
Objective: To clinically characterise paroxysmal movement disorders (PxMD) and determine prevalence in a paediatric population for the first time. Background: Characterised by episodic involuntary movements,…Feasibility of Reliable, Remote Assessment of a 13-year-old Boy Who Stopped Talking
Objective: To assess the feasibility of reliable, remote assessments of videos of a 13-year-old boy who stopped talking Background: The sudden absence of speech in…Is essential tremor-plus phenotype a prodromal phase of Parkinson’s disease ?
Objective: To study the probability of conversion of essential tremor (ET) and ET-plus patients to Parkinson's disease (PD). Background: ET-plus syndrome represents a wide spectrum…
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