A novel G413S mutation in the CSF1R gene causes Hereditary Diffuse Leucoencephalopathy with axonal Spheroids; clinically overlapping features of Parkinsonism
Objective: The current study was designed to investigate the genetic cause of atypical Parkinsonism is a multigenerational Pakistani family Background: Hereditary Diffuse Leucoencephalopathy with axonal…Global presence and penetrance of CSF1R-Related disorder
Objective: The study aimed to assess the occurrence of CSF1R-related disorder (CSF1R-RD) and present the first haplotype analysis. Background: Since the discovery of CSF1-R gene…New Pathological Findings in an International Cohort of Hereditary Spastic Paraplegia 4 Patients
Objective: To determine the clinical and genetic differences in hereditary spastic paraplegia SPG4 patients across various countries. Background: SPG4/SPAST gene account for approximately 40% of…Implications of BSCL2 Mutation in the Pathogenesis of Parkinson’s Disease
Objective: To report a case of a probable association between a mutation in the BSCL2 gene (Berardinelli-Seip Congenital Lipodystrophy 2) and Parkinson's disease (PD). Background:…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…Parkinson’s Families Project: A UK-Wide Study of Early Onset and Familial Parkinson’s Disease
Objective: The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson's disease (PD). Background: Rare variants…Clinical And Genetic Analysis Of Patients With Parkinson’s Disease -LRRK2 Variants From A Referral Centre In India
Objective: Our study aims to describe the clinical features and genetic profile of patients of PD carrying LRRK2 variants and draw correlation with genetic variants.…Preparing for a clinical trial: a run-in natural history study in POLR3A-associated spastic ataxia with intronic mutations amenable to splice-modulating therapeutic approaches
Objective: The aim of this study is the identification of progression and treatment response outcomes for POLR3A-associated spastic ataxia caused by the recurrent intronic c.1909+22G>A…Kufor-Rakef syndrome, report of two unrelated cases from Chile studied with DAT-PET
Objective: To describe two previously unreported, unrelated cases of atypical parkinsonism caused by mutations in ATP13A2gene. Background: ATP13A2 gene, previously known as PARK 9, has recently…Using Long read sequencing to identify complex structural variants in PRKN-PD
Objective: Identify complex structural variants in PRKN gene from Parkinson’s disease patients. Background: PRKN is the most frequent causative gene in young onset Parkinson's disease…
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