PNKP deficiency mimicking a benign hereditary chorea: the misleading presentation of a neurodegenerative disorder
Objective: We report on a new case expanding the clinical presentation of PNKP deficiency Background: PNKP gene encodes for a kinase/phosphatase protein involved in DNA…An updated flow chart for the evaluation of chorea
Objective: The aim of this poster is to provide a tool to facilitate diagnosis of chorea. This flow chart has been presented at previous MDS…Mu opioid receptor agonism, not antagonism, for the treatment of L-DOPA-induced dyskinesia in Parkinson’s disease
Objective: To reappraise the role of the µ opioid receptor as a therapeutic target for L-DOPA-induced dyskinesia. Background: Parkinson’s disease (PD) is commonly treated with…Differential enhancement of ERK, PKA and Ca2+ signaling in direct and indirect striatal neurons of Parkinsonian mice
Objective: To identify cell-specific and dynamical modifications of signaling pathways associated with PD and drug-induced modifications Background: Parkinson's disease (PD) is characterized by severe locomotor…Factitious Disorder Imposed on Another mimicking a Dopamine Dysregulation Syndrome
Objective: To present a new type of Dopamine Dysregulation Syndrome in Parkinson's Disease. Background: Dopamine Dysregulation Syndrome (DDS) is a rare neuropsychiatric complication of Parkinson’s…Frequency of neuropsychiatric symptoms in non-demented early and late-onset Parkinson’s disease patients
Objective: To compare the frequency of neuropsychiatric symptoms (NPS) (depression, anxiety, psychotic, irritability, aggression, euphoria, apathy, behavioral disinhibition, repetitive motor behavior (RMB) and eating disorder)…Integrated therapy for Functional Movement Disorders: results from a pilot clinic
Objective: To create a novel pilot clinic for the treatment of Functional Movement Disorders (FMD). Background: FMDs are aberrations of motor system functioning in the…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…Variants in the beta-Glucocerebrosidase A (GBA) gene in German patients with Parkinson´s disease
Objective: To characterize GBA variants in a cohort of German patients with PD. Background: GBA encodes the lysosomal enzyme beta-glucocerebrosidase A. GBA mutations cause the lysosomal…A novel p.Trp42Arg REEP1 mutation associated with autosomal recessive Distal spinal muscular atrophy with vocal cord and diaphragmatic paralysis
Objective: To present a patient with homozygous mutation in Receptor Expression-Enhancing Protein 1 (REEP1) gene manifesting a severe congenital Distal spinal muscular atrophy (SMA) with…
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