Disease Monitoring through the PKAN Disease Rating Scale (PKAN-DRS) in Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Objective: To assess the utility of PKAN-DRS as an outcome measure for monitoring disease progression in PKAN . Background: The PKAN-DRS assess multiple domains affected…Genotype-Phenotype Relations in Neurodegeneration with Brain Iron Accumulation (NBIA) Genes: MDSGene Systematic Review
Objective: To provide a comprehensive review of individual-level data and genotype-phenotype relationships for genes implicated in neurodegeneration with brain iron accumulation (NBIA) disorders. Background: The…GPi and STN DBS for NBIA-Related Dystonia.
Objective: The authors present a group of patients with diagnosed NBIA- related general dystonia (PANK2 mutation), treated with deep brain stimulation (DBS). Background: Lack of…The Landscape of Neurodegeneration with Brain Iron Accumulation in Indian patients: Lessons from a Multicentric Cross-sectional Study
Objective: To delineate clinical, molecular, and radiological landscape of patients with Neurodegeneration with Brain Iron Accumulation (NBIA) in a nationwide Indian cohort. Background: NBIAs are…Neurodegeneration with brain iron accumulation in pediatric population: Clinico-radiologic and genetic features
Objective: To correlate, clinical and magnetic resonance imaging (MRI) characteristics with genetics, of pediatric patients with Neurodegeneration with brain iron accumulation (NBIA). Background: NBIA is…Unraveling the Complexity of Neurodegenerative Disorders: A Case Report of PKAN Suspected in a 24-Year-Old Patient with Severe Dystonia
Objective: To present a case study of a 24-year-old patient with severe dystonia and cognitive decline, suspected to have Pantothenate Kinase-Associated Neurodegeneration (PKAN), a rare subtype…Case report of atypical PKAN expressed in late sixth-decade
Objective: We report a case of atypical PKAN expressed in late adulthood with a typical radiologic finding and genetic confirmation. Background: Pantothenate-kinase-associated neurodegeneration (PKAN) is…Neurodegeneration with Brain Iron Accumulation: A case series from a single center in India
Objective: To study the clinical, radiological and genetic characteristics of patients with NBIA from a single centre in India. Background: Neurodegeneration with Brain Iron Accumulation…Late-onset cerebellar ataxia revealing a Pantothenate-kinase-associated neurodegeneration
Objective: Recall a case of genetic late-onset cerebellar ataxia with a specific clinical and radiological feature highly suggestive of Pantothenate-kinase-associated neurodegeneration(PKAN). Background: Cerebellar ataxia is…Prevalence of seizures in patients with Neurodegeneration with Brain Iron Accumulation
Objective: To investigate the frequency and pattern of seizures in Neurodegeneration with brain iron accumulation (NBIA) disorders in a South Indian cohort. Background: Seizure as…
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