Paroxysmal asymmetric dystonic arm posturing – a less recognised but characteristic manifestation of ATP1A3-related disease
Objective: To highlight a less recognised but characteristic manifestation of ATP1A3-related disease. Background: ATP1A3 mutations cause a wide clinical spectrum, and are one of the…A Systems Approach Model for Pantothenate Kinase-Associated Neurodegeneration (PKAN)- Assessment and Treatment
Objective: Propose a new systems approach model for PKAN, investigate treatment, and establish biologic and genetic markers. Background: PKAN is a recessive, rare, inborn error…Distinct phenotypic expression in a large PKAN cohort in the Dominican Republic
Objective: Analysis of a large genetically homogenous PKAN population, assessing demographics, clinical features, and rating scales to characterize observed phenotypic heterogeneity. Background: PKAN is an…5 cases Static Encephalopathy of childhood with NeuroDegeneration in Adulthood (OMIM 300894) in children
Objective: 5 russian female patients aged 3 to 6 years with different mutations of the WDR45 gene were examined. Background: To study the clinical picture…A study of Mutation in ATP7B gene and its correlation with clinical phenotype and radiological features in patients of Wilson Disease-a population based study in a tertiary care institute in eastern India
Objective: The present study was aimed at exploring the mutation profile of Eastern Indian Wilson’s Disease (WD) patients and analyzing the effect of mutations by…Wislon disease: clinical specificities of the disease course under normal ceruloplasmin in the blood, a clinical case from Kyrgyzstan
Objective: Apparent clinical picture of Wilson's disease with normal blood ceruloplasmin levels in young patients with Wilson's disease. Background: Wilson's disease is a hereditary disease…Rapidly onset progressive generalised dystonia parkinsonism in a young Indian male with rare FBXO 7 genetic mutation
Objective: To describe a rare case of rapidly progressive generalized dystonia parkinsonism due to FBXO7 gene mutation. Background: Parkinson’s disease is a neurodegenerative disorder of…A case of Aceruloplasminemia with vertical saccadic eye movement abnormalities
Objective: We describe the phenotype, video-oculagraphic and neuroradiological findings of a case of aceruloplasminemia (AC). Background: Aceruloplasminemia presents in adulthood and is characterized by microcytic…Hyperammonemic Encephalopathy as Primary Cause of Movement Disorders: Report of Two Cases
Objective: We report two cases of movement disorders (MD) due to hyperammonemia. The first patient presented with noncirrhotic hyperammonemia after gastric bypass surgery(GBS) and the…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.