Co-occurrence of Spinal Muscular Atrophy Type 2 and Huntington’s Disease
Objective: To describe a unique case of co-occurring SMA2 and HD in a patient. Background: Huntington’s Disease (HD) is an autosomal dominant neurodegenerative disorder caused…Detection and characterization of rare variants in NOTCH2NLC causing false negative molecular diagnosis through long-read sequencing
Objective: This study investigated a NIID patient with typical clinical and imaging features but no detectable NOTCH2NLC GGC expansion using standard testing. Whole-genome long-read sequencing…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.…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…Can Heterozygous Autosomal Recessive Mutations Cause Neurological Disease?
Objective: To highlight the significance of heterozygous PLA2G6 and PRKN gene mutations in causing parkinsonism. Background: We report our observations in two families with multiple…Phenotypic characterization of an ATP13A2 knockout rat model of Parkinson’s disease
Objective: This project aimed to characterize the first-ever transgenic ATP13A2 knockout rat model to elucidate the underlying mechanisms of ATP13A2-associated pathology. Background: Most Parkinson’s disease…Perry Syndrome due to a DCTN1 novel variant
Objective: To report the clinical features of a patient with Perry syndrome (PS) due to a heterozygous novel pathogenic variant in the DCTN1 gene. Background:…
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