Multivariate analysis of writer`s cramp: a study with advanced multi-channel microelectrode recording system
Objective: To quantify difference in WC patients with Concordant mirror movements(MMs) from those with Discordant MMs. Background: Invasive methods are encouragive for quantitative analysis. The…Glut-1 deficiency: a case report
Objective: To report the case of a patient with refractory seizures who was diagnosed with Glut-1 deficiency. Background: Although Epilepsy is commonly diagnosed by child…Putaminal Atrophy Gradient in X-linked Dystonia-Parkinsonism
Objective: To better understand striatal pathology in X-linked Dystonia-Parkinsonism (XDP) by combining T1 and Magnetization Transfer (MT) Imaging. Background: XDP is a neurodegenerative disorder characterized by…Saccadic impairment in patients with Gaucher’s disease type 3
Objective: To characterize saccades in patients with chronic neuronopathic Gaucher’s disease (GD3) in relationship to their neurological and cognitive status using a computer-based eye-tracking technique. Background: GD3 is…Development of a Paroxysmal Movement Disorder Diary for Patients with Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Objective: To perform qualitative research to develop and establish content validity of a new clinical outcome assessment (COA) instrument for paroxysmal movement disorders in Glut1…Neurological worsening in patients undergoing treatment for Wilson disease: Frequency, causes and outcomes.
Objective: To study the pattern of neurological worsening (NW) in patients undergoing treatment for Wilson disease (WD). Background: WD is an inherited disorder of copper…Perrault syndrome: CLPP-Knock-Out mouse brain shows accumulation of mitoribosomes
Objective: We aimed to document the alterations of pathways and molecules that underlie brain pathology in the Perrault syndrome. Background: Perrault syndrome is an autosomal…Atypical and slowly progressive FTDP-17 caused by MAPT p.R406W mutations – similarities to AD and PSP.
Objective: We compiled clinical data of a new kindred with the MAPT c.1216C>T (p.Arg406Trp; R406W) mutation and systematically reviewed previously described cases with this mutation.…FXTAS, PD, and ET subjects demonstrate distinct gait, balance and tremor deficits under normal, environmentally challenging, and dual-task conditions
Objective: To compare FXTAS, PD, ET and controls using quantitative measures of gait, balance, and tremor. Background: Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease…Assessments of Movement Disorder Symptoms and Functional Impacts in Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Objective: To identify Clinical Outcome Assessments (COAs) appropriate for the evaluation of paroxysmal movement disorder symptoms and functional impact in Glut1 DS. Background: Glut1 DS…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.