The effect of ADORA2A gene polymorphism on the dyskinesia of Parkinson’s Disease
Objective: To investigate the relationship of levodopa-induced dyskinesia with ADORA2A gene polymorphisms in PD patients. Background: With the progression of the disease, motor complications and…MYORG is associated with recessive primary familial brain calcification
Objective: To investigate the genetic basis of the recessive form of primary familial brain calcification (PFBG) and study pathways linking a novel gene with known…TPK1 mutation induced childhood onset dystonia and dyskinesia
Objective: To describe the clinical manifestation of a patient with TPK1 mutation. Background: A number of defects in thiamine metabolism are reported to cause various childhood…Reviewing the clinical and mutational spectrum of SLC20A2, PDGFB, PDGFRB, XPR1 and MYORG mutations in Primary Familial Brain Calcification (PFBC) for MDSGene
Objective: We present the clinical and mutational spectrum of SLC20A2, PDGFB, PDGFRB, XPR1, and MYORG mutations, thereby adding a new gene, MYORG, recently found to…Early onset parkinsonism and optic atrophy due to SLC25A46 mutations
Objective: To define the genetic background of a case affected by parkinsonism with optic atrophy. Background: Mutations in SLC25A46 have been recently described as causative…Evaluating IL6 and mitochondrial DNA levels as a potential biomarker in carriers of Parkin and PINK1 mutations
Objective: To discriminate affected PARK-Parkin and PARK-PINK1 mutation carriers from idiopathic Parkinson’s disease (PD) patients and healthy controls using serum IL-6 and mtDNA levels. Background:…Spastic ataxia and pseudo eye-of-the-tiger sign in a familiy with a novel compound heterozygous AFG3L2 mutations
Objective: Identify by exome sequencing (ES) the underlying etiology of spastic ataxia and pseudo eye-of-the-tiger sign (EOT) in 4 siblings. Background: The EOT is a…Genetic study of patients with Parkinson’s disease subjected to second line therapies
Objective: Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be…Tremor and parkinsonism in Chromosomopathies – a systematic review
Objective: To review the co-occurrence of parkinsonism and tremor syndromes in patients with chromosomic disorders. Background: The landscape of genetic forms of Parkinson’s diseases (PD)…A novel intronic pentanucleotide TTTGA repeat insertion in SAMD12 causes familial cortical myoclonic tremor with epilepsy type 1
Objective: To identify the genetic cause in a familial cortical myoclonic tremor with epilepsy (FCMTE) pedigree without reported pathogenic(TTTCA)n insertions. Background: FCMTE is an autosomal…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.