Longitudinal analysis of disease progression in a large PKAN cohort in the Dominican Republic
Objective: To analyze the rate of disease progression of PKAN over a 12 year period in 37 patients with genetically-confirmed PKAN in the Dominican Republic.…PEX 16: EXPANDING THE CLINICAL SPECTRUM OF PEROXISOMAL BIOGENESIS DISORDERS
Objective: IDENTIFICATION OF A NOVEL PEX 16 GENE MUTATION IN A YOUNG PATIENT WITH SLOWLY PROGRESSIVE ATAXIA AND SPASTICITY. Background: PEROXISOMAL BIOGENESIS DISORDERS(PBD) ARE CHARACTERIZED…Clinical outcome in early-treated Sepiapterine Reductase Deficiency (SRD): A case report
Objective: To report the outcome of a 6.3-year-old girl with SRD diagnosed and treated since the fifth month of life. Background: Sepiapterin reductase deficiency (SRD)…Encephalomyelopathy Due to Cerebrotendinous Xanthomatosis
Objective: To present a case in which the MRI of a patient with cerebrotendinous xanthomatosis (CTX) revelaled impairment of whole neuroaxis. Background: CTX is a…Familial Creutzfeldt-Jakob disease with D178N and Met129Val
Objective: Fatal familial insomnia (FFI) and Creutzfeldt-Jakob disease (CJD) are two phenotypes that share a common point mutation at codon 178 of the prion protein…Transcranial sonography in carriers of Gaucher disease
Objective: The objectives are to compare maximal area of SN hyperechogenicity (aSNmax) and diameter of third ventricle (DTV) between GBA mutation carriers and healthy controls.…Internal pallidum stimulation reduces mobile generalized dystonia in Wilson’s disease
Objective: Globus Pallidus internus (GPi) deep brain stimulation (DBS) is established in treatment of dystonia. We evaluated safety and efficacy of bilateral GPi stimulation in…X-chromosomal Dystonia-Parkinsonism: a systematic review of published and unpublished clinical data
Objective: To summarize and curate all published clinical data on x-chromosomal dystonia-parkinsonism (XDP) patients; identify relevant researches working on XDP and contact them for additional…A detailed delineation of the clinical phenotype, natural history and quality of life in patients with North Sea Progressive Myoclonus Epilepsy
Objective: To report for the first time on a detailed description of the phenotype, natural history and quality of life (QoL) in a relatively large…Novel Mutation of NUS1 Gene Presenting With Developmental And Epileptic Encephalopathy and Movement Disorders
Objective: To report the range of movement disorders associated with a NUS1 gene mutation. Background: To date, pathogenic loss-of-function de novoNUS1mutations have been described in only…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.