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…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…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.