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…Bi-allelic BORCS5 Variants Result In A Wide Spectrum of Progressive Neurodevelopmental Disorders via Lysosomal Dysfunction
Objective: To characterize a new brain disorder associated with BORCS5 variants, elucidating their effect on lysosomal distribution and activity Background: BORCS5 encodes a subunit of…ATP1A3-related disorder overlapping syndrome: a case report
Objective: The phenotypic spectrum in dystonic syndromes in ATP1A3-related disorders is wide. History of drug-refractory seizures, developemental delay, incoordination, dysarthria and dysphagia and movement disorders…Lysosomal network defects in parkinsonian patients carrying rare variants in lysosomal hydrolytic enzyme genes
Objective: Functional validation of rare variants of lysosomal genes potentially associated with early onset Parkinson's disease (EOPD) Background: The genetic load in EOPD is high;…Increased alpha-internexin levels are associated with a higher risk of Parkinson’s disease
Objective: This study aims to evaluate the causal relationship between plasma alpha-internexin levels and the risk of Parkinson’s disease (PD). Background: Alpha-internexin, implicated in neuronal…Contribution of Genetics to Onset of PD with Leg Tremor
Objective: To determine frequency and determinants of resting tremor in the leg as first motor symptom in Parkinson Disease (PD), especially as related to age…Genetic determinants of the progression of Lewy body pathology
Objective: To identify genetic risk factors associated with the distribution of Lewy body (LB) and Alzheimer’s disease (AD) co-pathology in the Lewy body disease (LBD)…Rare Variant Association Analysis in Kazakhstani Parkinson’s Disease Population: Preliminary Results from GP2 CAT-PD Study
Objective: To identify rare genetic variants in genes, previously associated with Parkinson’s disease (PD) within a population consisting of individuals with PD and unaffected controls…Juvenile DBP Deficiency – Case series
Objective: To report clinical phenotypes of 2 siblings with symptoms of Juvenile-onset D-bifunctional protein (DBP) deficiency. Background: HSD17B4 gene codes for DBP, a peroxisomal protein with…Mutation of the ATP5F1A gene associated with dystonia, spasticity, myoclonus, cognitive impairment and epilepsy – a rare case report of a patient
Objective: We present a patient with generalized dystonia with spasticity, craniofacial dysmorphism and myoclonus on the left upper limb due to mutation of the ATP5F1A…
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