Spanish Primary Familial Brain Calcification caused by SLC20A2 mutation
Objective: To describe clinical and radiological features of a Spanish family with Primary Familial Brain Calcification (PFBC) and genetic results of the index case. Background:…Hereditary spastic paraplegia type 31: a novel splice site donor mutation and intra-familial phenotypic variability
Objective: The aim of this study is to reveal molecular pathogenicity and genotype-phenotype correlations in Spastic Paraplegia type 31 (SPG31). Background: Mutations in REEP1 have…Information transfer between subthalamic area and forearm muscles during tonic muscle activity in Parkinson’s patients
Objective: We compare information transfer between forearm muscles and two subthalamic regions, namely the subthalamic nucleus (STN) and the zona incerta (ZI), during an isometric…Changes in saccade performance with oculomotor task repetition in neurological disorders
Objective: To investigate short-term changes in saccade performance associated with repeated performance of oculomotor tasks in various neurological disorders and to elucidate the underlying neural…“Essential tremor” as a presenting symptom of neuronal intranuclear inclusion disease (NIID).
Objective: To describe a patient with late onset, sporadic NIID who had a tremor as his first complaint. Background: NIID is a rare, slowly progressive…Diagnostic utility of regional [18F]AV-1451 tau-PET measurements in PSP
Objective: To determine the diagnostic utility of regional subcortical [18F]AV-1451 tau-PET measurements to differentiate progressive supranuclear palsy (PSP) from age-matched controls and Alzheimer’s dementia patients.…Application of a Qualitative Model to Elucidate the Role of the Alpha-Synuclein System in Parkinson’s Disease.
Objective: Objective: In order to improve the understanding of the alpha-synuclein system and its role in Parkinson’s disease, Elan and Rosa collaborated in the development…Extended “Timed Up and Go”: A Clinical Indicator of Cognitive State in Parkinson’s Disease?
Objective: To evaluate an extended Timed Up and Go (extended-TUG) as a potential holistic indicator of Parkinson’s disease; hypothesised to correlate closely with disease severity…APOE4+ status increases rate of longitudinal cognitive decline in Parkinson Disease patients with low CSF Aβ42
Objective: To determine if the presence of APOEɛ4 allele (APOE4+) predicts longitudinal cognitive decline in Parkinson’s disease (PD) patients with low CSFAβ42 Background: Cognitive impairment…Anosognosia for Levododopa-induced Dyskinesias in PD – Frequency
Objective: To evaluate the factors and possible mechanisms associated with anosognosia for LIDs in patients with PD using movie presentations and mirrored self-images. Background: Levodopa-induced…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.