Expanding the Phenotype of KCNA2 Mutation: Tics and Stereotypies
Objective: To report a case of KCNA2 mutation variant with tics. Background: Mutations in the KCNA2 gene impact the function of a voltage-gated potassium channel…Dysphagia in Adults with Niemann-Pick Disease Type C
Objective: We aimed to (1) characterise baseline swallow function in people with NPC and (2) evaluate the impact of Miglustat treatment on the swallowing process.…Cerebrotendinous Xanthomatosis presenting Parkinsonism with bilateral iron accumulation in the basal ganglia
Objective: Cerebrontendinous xanthomatosis(CTX) is a treatable, autosomal recessive, lipid storage disorder disease. Herein, we present a case of CTX. It aims to refresh and improve…Dystonia as a main clinical feature of AAMR with a novel GMPPA mutation:A case report
Objective: To extend the spectrum of clinical phenotype in the alacrima, achalasia and mental retardation syndrome(AAMR) by reporting a case. Background: AAMR is a newly…Correlations between genetics and cortical dysfunction of paroxysmal kinesgenic dyskinesia
Objective: To delineate the cortical function of paroxysmal kinesigenic dyskinesia (PKD) and correlate with the genotypes of patients. Background: PKD is characterized by episodic involuntary movements…NKX2-1-Related Disorder with Cerebral Folate Deficiency
Objective: To describe a patient with a de novo NKX2-1 mutation and low CSF 5-methyltetrahydrofolate (5MTHF) who had mild improvement in fine motor control after…Neurological Wilson Disease: Clinical Aspects and Evolution in 10 Cases
Objective: Describe the clinical aspects and evolution in 10 patients with neurological Wilson's disease (NWD). Background: Wilson's disease (WD) is a rare autosomal recessive metabolic…Associations of Genetic, Epigenetic and Phenotypic Measures in the Dominican Republic PKAN Cohort
Objective: To explore relationships between demographic, clinical and behavioral phenotypes and underlying genetic and epigenetic features, utilizing a large cohort of PKAN patients. Background: PKAN…Hyperkinetic Movement Disorders in Congenital Disorders of Glycosylation
Objective: The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by Congenital Disorders of Glycosylation (CDG) and to characterize…Case report: Chorea-acynthocytosis with two compoud heterozygous VPS13A large deletions
Objective: We report a 33 year old male patient without functional protein due to compound heterozygosity for VPS13A deletions and discuss the molecular diagnostic difficulties…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.