Genetic and Clinical Analysis of Cerebral Calcifications
Objective: Genetic and clinical analysis in primary cerebral calcification. Background: Cerebral calcification is associated with a variety of disorders of different aetiologies. To date, the primary…Reviewing the Clinical and Mutational Spectrum of SLC20A2 Mutations in Primary Familial Brain Calcification (PFBC) for MDSGene
Objective: Following the MDSGene protocol, we here present the clinical and mutational spectrum of SLC20A2 mutations, thereby adding the first gene found to be mutated…C19orf12 p.Thr11Met mutation is frequent among adult Turkish patients with MPAN
Objective: To genetically and clinically characterize a series of Turkish patients affected by neurodegeneration with brain iron accumulation (NBIA) compatible with an autosomal recessive form…Characterizing the Bcl-2 Associated Athanogene 5 Interactome
Objective: Characterizing the Bcl-2 Associated Athanogene 5 (BAG5) interactome will uncover the molecular pathways with which BAG5 associates and further elucidate its role in dopaminergic…Development of nano-formulation containing crocetin for the protective and beneficial effect against 6-hydroxydopamine induced Parkinson’s disease model via altered the genetic backgrounds
Objective: Parkinson’s disease (PD) induced by the interaction between the number of factors viz., aging, genetics toxins, mitochondrial deformity and oxidative stress. Various evidences suggest…Familial idiopathic basal ganglia calcification with novel SLC20A2 gene variant
Objective: Describe a family with brain calcifications related to new pathogenic variant of SLC20A2 gene. Background: Three genes are associated with the rare occurrence of autosomal…Antisense FMR1 splice variant and loss of AGG interruptions are predictors of Fragile X-associated tremor/ataxia syndrome (FXTAS)
Objective: To evaluate the role of splice patterns of the antisense FMR1 (ASFMR) gene in Fragile X-associated tremor/ataxia syndrome (FXTAS) Background: FXTAS is an inherited…Living with Ataxia in Ireland 2016–a nationwide survey of 130 Irish patients with inherited Ataxia
Objective: To collect real-life data from a large cohort of patients with inherited ataxia in Ireland, with special attention to the individual ataxia-related healthcare resources…Utility of ataxia gene panel testing in diagnosing inherited ataxia: evaluation of an Irish cohort
Objective: To evaluate the utility of gene panel testing in a population of patients with genetically undetermined ataxia attending the Irish National Ataxia clinic. Background:…SPG7-related ataxia in the Irish National Ataxia Clinic cohort: case series
Objective: To present comprehensive clinical, optical coherence tomography (OCT) and genetic findings on SPG7 –related cohort attending the National Ataxia Clinic in Ireland. Background: Hereditary…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.