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…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…Deep Brain Stimulation (DBS) in Pantothenate Kinase-Associated Neurodegeneration (PKAN): An Experience in a Thai Patient
Objective: To report a patient with PKAN whose dystonia improved with bilateral pallidal (GPi) DBS. Background: The benefits of GPi DBS are well-recognized in primary…Pantothenate kinase-associated neurodegeneration in Tunisian families
Objective: To describe clinical features, imaging and genetic findings of 6 Tunisian families diagnosed with PKAN. Background: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive…Autosomal dominant PANK2 mutation resulting in cervical dystonia with iron accumulation in the basal ganglia
Objective: Identification and functional analysis of the disease-causing gene in a family with dominantly inherited cervical dystonia. Background: With the introduction of next generation sequencing…A Randomized Trial of Deferiprone for Pantothenate Kinase-Associated Neurodegeneration
Objective: To investigate whether treatment with the iron-chelating drug deferiprone (DFP) has benefit in patients with pantothenate kinase-associated neurodegeneration (PKAN), the most common form of…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.