PLA2G6-Associated Neurodegeneration: A Continuum of Phenotypes
Objective: To characterize the spectrum of phenotypes of PLA2G6-associated neurodegeneration in a single patient. Background: The phospholipase A2 Group VI (PLA2G6) gene encodes a cytosolic and…Slowly progressive spastic paraplegia due to rare mitochondrial dysfunction: a clinical case
Objective: To present a case of spastic paraparesis associated to a rare mitochondrial disorder. Background: Metabolic disorders may have a clinical course overlapping common neurodegenerative…Wearable sensors are able to identify individuals in the prodromal phase of X-linked Dystonia-Parkinsonism
Objective: To identify subclinical changes of balance and gait in patients with X-linked dystonia-parkinsonism (XDP) and non-manifesting carriers of the XDP-causing mutation. Background: XDP is…MOLECULAR-GENETIC ASPECTS OF WILSON’S DISEASE IN UKRAINE
Objective: To assess the features of molecular genetic mutations in the Ukrainian population of patients with Wilson's disease (WD). Background: Molecular genetic research becomes available…Dystonia due to GM3 synthase deficiency
Objective: GM3 synthase deficiency has been rarely reported to cause dystonia. We report three cases of affected siblings involving a prominent dystonic phenotype. Background: Gangliosides…GNAO1 related movement disorders: 2 longitudinally-followed cases
Objective: To describe the clinical course, phenomenology, and treatment response in two patients with GNAO1 related movement disorders. Background: Since the initial report of 4…Accuracy of Frontal Assessment Battery to detect Mild Cognitive Impairment in a Cuban sample of Parkinson’s disease patients
Objective: The aim of this study is to evaluate the accuracy (sensitivity and specificity) of Frontal Assessment Battery (FAB) for detecting executive deficits in a…The Gastrointestinal Dysfunction Scale – Parkinson’s Disease (GIDS-PD): a new tool to assess gastrointestinal dysfunction in Parkinson’s Disease
Objective: Objective: To develop and validate the Gastrointestinal Dysfunction Scale – Parkinson’s Disease (GIDS-PD), a self-report scale designed to assess presence and severity of Gastrointestinal…Emergence of new symptoms in experiences of daily living in early Parkinson’s disease
Objective: To explore the utility of assessing emergence of new symptoms (ES) impacting the daily experiences of patients with early Parkinson’s disease (PD) in relation…Does MDS-UPDRS provide greater sensitivity to mild disease than UPDRS for assessing motor severity in early Parkinson’s disease?
Objective: To test whether The Movement Disorder Society revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part III (Motor Examination) items provide increased sensitivity…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.