Effectiveness of a Multi-disciplinary Parkinson’s Disease (PD) Clinic: A 2-year Prospective Observational Study
Objective: To evaluate if a multi-disciplinary PD clinic can result in better outcome in PD patients in 2 years. Background: PD is a neurodegenerative disease…Movement Disorders Phenomenology in Focal Motor Seizures
Objective: To examine the extent to which focal motor seizures can present with a phenomenology fulfilling diagnostic criteria for one or more movement disorder. Background:…Is early onset ataxia phenotypically discernible from developmental disorders with impaired coordination?
Objective: To investigate: 1. the diagnostic accuracy of phenotypic Early Onset Ataxia (EOA) recognition among other pediatric disorders with impaired coordination (developmental coordination disorder (DCD)…Parkinsonism in Christianson Syndrome: A Unique Presentation of a Unique Syndrome
Objective: Phenotypic variability in Christianson Syndrome Background: The SLC9A6 gene encodes a sodium-hydrogen exchanger-6 protein involved in endosomal trafficking. Loss-of-function variants in SLC9A6 gene have…A novel homozygous splice site mutation in the KIF1C gene (SPAX2, SPG58) found in a consanguineous turkish family
Objective: We present clinical, electrophysiological and genomic data of a consanguineous family with two affected siblings suffering from spasticity and severe ataxia. Background: Mutations in…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.