Cerebrotendinous Xanthomatosis Tremor Successfully Controlled post-VIM-Deep Brain Stimulation
Objective: Report on tolerability of VIM-deep brain stimulation (DBS) in a patient with cerebrotendinous xanthomatosis (CTX) and medication refractory unilateral tremor. Background: CTX is a…Adrenoleukodystrophy Spastic Gait: Treatment with Fampridine
Objective: Report a possible alternative treatment for spastic gait in 2 adult patients with adrenoleukodystrophy. Background: X-linked adrenoleukodystrophy is a peroxisomal hereditary disease with tissue…SYNGAP1-related intellectual disability with ataxia and late onset of epileptic seizures
Objective: To characterize seizures in a patient with SYNGAP1 mutation and the efficacy of antiepileptic drugs (AEDs). Background: SYNGAP1-related intellectual disability is characterized by developmental…Cooper-deficiency myeloneuropathy in Wilson´s Disease as a result of D-penicillamine treatment: A case report
Objective: To present a case of subacute combined degeneration of the spinal cord secondary to iatrogenic copper deficiency as a result of D-penicillamine therapy. Background:…POLR3A Leukodystrophy presenting with levodopa responsive parkinsonism
Objective: This is a case of a 51-year-old lady with POLR3A related leukodystrophy and secondary dopa responsive parkinsonism. Background: Neurologic symptoms began 15 years ago…Botulinum Toxin dose optimization in pediatric DYT1 type Focal Hand Dystonia and tremor
Objective: We diagnosed a rare pediatric case of genetic focal hand dystonia (FHD) with dystonic tremor and optimized Onabotulinum Toxin A injection treatment dosing. Background:…Phenotypic analysis of subjects with homozygous and compound heterozygous PANK2 mutations in a single extended pedigree from the Dominican Republic (DR) PKAN cohort
Objective: Whole exome sequencing and genotypic screening of homozygous and heterozygous PANK2 mutations in the Dominican Republic. Background: PKAN affects 1 in 1,000,000 people worldwide,…Comprehensive Screening of Genetic, Genomic, Mitochondrial, and Microbiome Associations with Phenotypic Measures in the Dominican Republic PKAN Cohort
Objective: Establish novel molecular predictors of phenotypic variation using screening of genomic, transcriptomic, mitochondrial, microbiome, and clinical features. Background: Pantothenate Kinase Associated Neurodegeneration (PKAN), also…A translational approach to determine target concentrations of MIN-102 (leriglitazone) to support a Phase II study in Friedreich’s ataxia
Objective: To determine efficacious plasma concentration of leriglitazone from preclinical models of Friedreich´s ataxia (FRDA). To confirm CNS target engagement in a first-in human study.…KMT2B-related dystonia (DYT28) and Klippel-Feil Syndrome: A new association?
Objective: To report the association of lysine-specific histone-methyltransferase 2B gene (KMT2B)-related dystonia (DYT28) and Klippel-Feil Syndrome (KFS). Background: Dystonia is a hyperkinetic movement disorder characterized…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.