Genetic markers revealed in dysregulated pathways in ischemic stroke may lead to Parkinson’s disease
Objective: To assess differential expression and gene set enrichment analysis to identify biological pathways associated with stroke and Parkinson’s disease (PD). Further, putative drug targets…Novel p.Pro193Arg missense mutation in ABCD1-gene associated with phenotype of ALD/AMN: a case report
Objective: To describe a novel mutation p.Pro193Arg of the ABCD1-Gene in a patient presenting with clinical phenotype of Adrenomyeloneuropathy (AMN). Background: Adrenoleukodystrophy comprises progressive neurologic…Neurofascin is a novel gene associated with autosomal recessive spastic and polyneuropathy
Objective: We aim to find the genetic defect causing infantile-onset ataxia and mild demyelinating neuropathy in two siblings of an Italian consanguineous family. Background: Neurofascin…Genetic polymorphism (rs6971) in translocator protein (TSPO) and its clinical relevance in Parkinson’s disease
Objective: The objective of this study will be to identify specific clinical patterns in Parkinson’s disease patients with respect to TSPO genetic polymorphism (rs69711). Background:…Assessing the response to Levodopa/carbidopa intestinal gel infusion based on genetic status
Objective: The aim of this study was to characterize patients with Parkinson's disease (PD) on Levodopa/carbidopa intestinal gel infusion (LCIG) treatment based on their genetic…Heterozygous DCC mutations, more than congenital mirror movements
Objective: To perform a comprehensive characterization of 5 patients with variable degree of congenital mirror movements. Background: Congenital mirror movements (CMM) are rare non-progressive syndromes…Clinicopathologic Characterization and Abnormal Autophagy of HDLS
Objective: We aimed to investigate clinical and pathological characteristics in hereditary diffuse leukoencephalopathy with spheroids (HDLS) patients and explore the potential impact of colony-stimulating factor…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…Screening of mutations in PARK2 gene and Dopamine levels in Parkinson’s disease (PD) patients in Coimbatore population, India
Objective: The aim of the present study was to perform the mutational screening of PARK2 gene and dopamine level in PD patients of Coimbatore population,…Identification of genetic alterations and SNCA mutation in Parkinson’s disease patients of Coimbatore Population, India
Objective: The aim of the study is to analyze the genetic alterations in SNCA gene and dopamine transporter in 22 PD patients of Coimbatore population.…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.