Pantothenate kinase associated neurodegeneration: A familial case report of two sisters with severe dystonia
Objective: To report a familial case of severe dystonia associated with Pantothenate kinase associated neurodegeneration (PKAN). Background: Pantothenate kinase associated neurodegeneration (PKAN) is named previously…Diverse Phenotypic Variations Among Siblings with NBIA: A Case Report and Review of Literature
Objective: The purpose of this case report and literature review is to increase the awareness of practicing clinicians regarding the mosaic clinical pattern this disease…PKAN is associated with significant peripheral metabolic alterations in the Dominican Republic cohort
Objective: Applying segmental bioimpedance testing to assess peripheral metabolic alterations in PKAN. Background: PKAN is a rare autosomal recessive disorder with >50 different mutations in…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…Temporal Emergence of Symptoms and Functional Impairments in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Objective: To describe the temporal emergence of PKAN symptoms and functional impairments across the spectrum of PKAN severity. Background: PKAN, an autosomal recessive, progressive neurodegenerative…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…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.…Deep Brain Stimulation for atypical tremors secondary to Neuroferritinopathy: Single center experience
Objective: To describe the clinical response to deep brain stimulation. Background: Neuroferritinopathy is a neurodegenerative disease in which mutations in the ferritin light polypeptide (FTL)…Dystonic opisthotonus: A clinical clue to neurodegeneration with brain iron accumulation in young adults
Objective: To describe the diagnostic value of dystonic opisthotonus as a clinical clue towards a diagnosis of neurodegeneration with brain iron accumulation. Background: Differential diagnosis…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.