The role of genetic modifiers in Parkinson’s disease-associated LRRK2-G2019S mutation
Objective: The aim of the study is to use genome-wide approach to elucidate genetic variability that influences LRRK2 G2019S penetrance in Parkinson's Disease (PD). Background:…Association analysis between SCNN1A rs10849446, SPTLC3 rs6041636 and rs627354 and Parkinson’s disease and multiple system atrophy in a large Chinese population
Objective: Considering the overlap in clinical manifestations, genetic findings and pathological hallmark between PD and MSA, we aimed to study the association between these 3…Parkinson’s disease Polygenic Risk Factor Scores in Patients with Inflammatory Bowel Disease
Objective: To assess the genetic risk factors for Parkinson’s disease (PD) in a large population of patients with inflammatory bowel disease (IBD), as compared to…SNP assessment and gene expression analysis of alpha-synuclein (SNCA), LRRK2 gene and parkin (PRKN) gene in chewing tobacco exposures and find out the risk of Parkinson’s disease
Objective: We aimed to find out the molecular assessment of the risk of Parkinson’s disease (PD) in tobacco exposure through the SNP and gene expression…Serum MIR-96-5P and MIR-339-5P as a Potential Biomarker for Multiple System Atrophy and Parkinson’s Disease
Objective: The aim of our study was to to determine if serum mir-96-5p and mir-339-5p can be used as biomarkers for early diagnosis of Parkinson’s…5 cases Static Encephalopathy of childhood with NeuroDegeneration in Adulthood (OMIM 300894) in children
Objective: 5 russian female patients aged 3 to 6 years with different mutations of the WDR45 gene were examined. Background: To study the clinical picture…Case Series of 3 Individuals of African Descent with Dentatorubral-Pallidoluysian Atrophy
Objective: To analyze the demographics, genetic history, co-morbidities, and clinical presentation of three individuals of African descent with Dentatorubral-Pallidoluysian Atrophy (DRPLA). Background: DRPLA is a…Transcranial sonography in carriers of Gaucher disease
Objective: The objectives are to compare maximal area of SN hyperechogenicity (aSNmax) and diameter of third ventricle (DTV) between GBA mutation carriers and healthy controls.…Hypophosphatasia presenting as parkinsonism with compound heterozygous mutations in ALPL gene
Objective: We report a hypophosphatasia patient presenting as parkinsonism, characterized by compound heterozygous mutations in ALPL gene. Background: Hypophosphatasia (HPP) is a rare metabolism disease,…In the shadow of Parkinson disease: what to tell patients with REM sleep behavior disorder?
Objective: To describe challenges to patient counseling in REM sleep behavior disorder (RBD). Background: RBD is a significant risk factor for development of Parkinson disease…
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