Reverse phenotyping of a 3.3Mb loss of 8p11.21p11.1, including SLC20A2, lead to a diagnosis of primary familial brain calcification
Objective: To describe the clinical picture of a patient with a large deletion in band 8p11.21p11.1 including SLC20A2 and present a review of patients with a…Gene panel testing in movement disorders: an efficient approach highlighting overlaps and heterogeneity
Objective: Our study aimed at developing a targeted sequencing approach using a customized panel of genes involved in movement disorders (MDs). Background: MDs are characterized…A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel/Crohn’s disease
Objective: The aim of this study to understand and define genetic overlap between multiple system atrophy (MSA) and autoimmune diseases such as Crohn’s disease (CD),…Intronic pentanucleotide TTTCA repeat insertions do not cause familial and sporadic cortical myoclonic tremor with epilepsy in the UK
Objective: To ascertain whether intronic TTTCA repeat insertions in the SAMD12, TNRC6Aand RAPGEF2 genes cause benign adult familial myoclonic epilepsy (BAFME) and progressive myoclonic epilepsy in the UK. Background:…A case report of two siblings Aicardi-Goutières Syndrome type 2
Objective: To report two sisters with late diagnosis of Aicardi-Goutières Syndrome 2. Background: Aicardi-Goutières Syndrome (AGS) is a rare encephalopathy characterized by basal ganglia calcification,…Neurological Wilson Disease: Clinical Aspects and Evolution in 10 Cases
Objective: Describe the clinical aspects and evolution in 10 patients with neurological Wilson's disease (NWD). Background: Wilson's disease (WD) is a rare autosomal recessive metabolic…Neuropathology in a case of HD-like syndrome caused by mutations in RNF216
Objective: To describe the neuropathology in a rare case of autosomal recessive HD like syndrome due to homozygous RNF216 mutations. To confirm the hypothesis of…The Role of Dysfunctional BDNF in Remodeling the Parkinsonian Striatum Following Dopamine Neuron Grafting in CRISPR rs6265 Rats
Objective: To evaluate the impact of the rs6265 Bdnf single nucleotide polymorphism (SNP) on function & synaptic integration of primary dopamine (DA) neuron grafts in…Does REM Sleep Behavior Disorder Change in the Progression of Parkinson’s Disease?
Objective: We aim to longitudinally evaluate clinical and neurophysiological features of REM sleep behavior disorder (RBD), including REM Sleep Without Atonia (RSWA) in Parkinson’s Disease…Evaluation of Retinal Layers in Restless Legs Syndrome
Objective: The aim of this study is to investigate the possible relationship between restless leg syndrome (RLS) and retinal thickness. Background: Dopamine is the major…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.