Deep brain stimulation for generalized dystonia
Objective: Objective : Author presents a group of patients with generalized dystonia treated with deep brain stimulation (DBS). Background: 32 patients (18 male, 16 female)…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,…Spastic ataxia and pseudo eye-of-the-tiger sign in a familiy with a novel compound heterozygous AFG3L2 mutations
Objective: Identify by exome sequencing (ES) the underlying etiology of spastic ataxia and pseudo eye-of-the-tiger sign (EOT) in 4 siblings. Background: The EOT is a…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…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.