Investigating the Role of Biallelic EPG5 Variants in Parkinson’s Disease
Objective: Investigate EPG5 role in PD aetiology. Background: Disruption of the lysosome-autophagy pathway is a recurrent feature in Parkinson’s disease (PD). EPG5 bi-allelic loss-of-function variants have been…Audit of Diagnostic Standards in the Dystonia Clinic
Objective: To assess the utilisation of genetic testing in the dystonia clinic using the Zech score. Background: The diagnosis and categorisation of dystonia are primarily…High Frequency of Pathogenic Variants in Neurodevelopmental Genes in Patients with Dystonia
Objective: To systematically investigate the occurrence of pathogenic variants in genes linked to neurodevelopmental disorders (NDD) in patients with dystonia. Background: Partially overlapping genetic causes…Uncovering novel genomic alterations in dystonia using gene burden analysis
Objective: To identify genomic alterations that are over-represented in the Indian dystonia cohort using gene burden analysis of rare variants. Background: Dystonia is a complex…Genetic Predictors in Dystonia: A Phenotypic Analysis.
Objective: To identify clinical predictors of genetic positivity in dystonia and to develop a phenotype-based predictive score to guide genetic testing. Background: Dystonia is a…Effects of Psychiatric Symptoms on Dystonia Risk: a Prospective Cohort and Mendelian Randomization Study
Objective: To investigate the association between psychiatric symptoms and the risk of dystonia, and to explore potential causal effects using Mendelian randomization (MR). Background: Psychiatric…A Novel VAC14 Variant Associated With Levodopa-responsive Generalized Dystonia
Objective: To report a novel VAC14 variant linked to levodopa-responsive dystonia. Background: VAC14 is essential for membrane trafficking, endosomal maturation and autophagy. Bi-allelic pathogenic variants…Modifiers of Intergenerational Repeat Changes in X-linked Dystonia–Parkinsonism
Objective: To investigate the effect of genetic modifiers of X-linked dystonia-parkinsonism (XDP) on the relevant repeat across generations. Background: XDP is a rare neurodegenerative disorder…Kufor-Rakeb Syndrome With a Novel Splice-Site Variant in the ATP13A2 Gene
Objective: To report a patient with juvenile-onset parkinsonism harboring a novel homozygous splice-site variant in ATP13A2. Background: Kufor-Rakeb syndrome (KRS) is an ultra-rare form of…A Rare Case of PLA2G6 Gene Related Early-Onset Dystonia-Parkinsonism; What Not to Miss Clinically and Radiologically
Objective: PLA2G6-associated neurodegeneration (PLAN) is a rare form of neurodegeneration with brain iron accumulation (NBIA) leading to heterogeneous clinical manifestation including infantile neuroaxonal dystrophy, atypical…
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