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…Homozygous BZRAP1 mutations cause autosomal recessive dystonia
Objective: To report the identification of bi-allelic mutations in BZRAP1, encoding the active zone (AZ) protein RIM-binding protein 1 (RBP1), as a novel cause of…GBA mutation: Linking Parkinson’s and Gaucher’s Diseases
Objective: Identify among patients attending the Movement Disorders Unit at the National Institute of Neurology and Neurosurgery, Mexico, if glucocerebrosidase (GBA) mutations were present in…Longitudinal CSF-profile and brain pathology mirrors clinical course of LRRK2-Related Parkinson’s Disease
Objective: Do clinical cognitive profiles and CSF characterisitcs of Abeta1_42, total-tau, phospho-tau and alpha-synuclein during lifetime correspond to histopathological findings post-mortem in LRKK2-associated Parkinson’s disease…Auditory-Perceptual Voice and Speech Evaluation in ATP1A3-positive Patients
Objective: To characterize speech and voice dysfunctions in ATP1A3 mutation positive individuals compared to concurrent mutation negative family controls. Background: Bulbar symptoms are frequent in…NKX2-1-Related Disorder with Cerebral Folate Deficiency
Objective: To describe a patient with a de novo NKX2-1 mutation and low CSF 5-methyltetrahydrofolate (5MTHF) who had mild improvement in fine motor control after…Looking “cherry red spot myoclonus” in the eyes
Objective: To describe eye movements in a cohort of patients affected with Sialidosis type 1. Background: Sialidosis, or Mucolipidosis type 1, is a rare autosomal…Investigating the impact of a-synuclein pathology on human embryonic stem cell derived dopaminergic neurons transplanted in an accelerated a-synuclein rat model of Parkinson’s disease
Objective: In this study, we assess how transplanted human embryonic stem cell (hESC) derived dopaminergic (DA) neurons survive, mature, integrate and innervate the host circuitry…REM density in isolated REM sleep without atonia
Objective: To investigate REM density in patients with isolated REM sleep without atonia. Background: Isolated RSWA (iRSWA) is regarded as a prodromal phase of REM…Treatment of dopaminergic augmented RLS with Ecopipam, A D1 specific antagonist: an exploratory placebo controlled cross-over trial
Objective: To establish initial safety and preliminary efficacy of ecopipam, a D1 specific antagonist in patients currently taking dopamine agonist and demonstrating augmentation. Background: Dopamine…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.