ArticleJournal of movement disorders2016
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.
Article in Journal of movement disorders, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 27 citations in OpenAlex.
- Very Late-Onset Neurodegeneration with Brain Iron Accumulation Associated with Mild Chorea: A Clinicopathological Case.Movement disorders clinical practice · 2025Article
- Genetic Landscape of Dystonia in Asian Indians.Movement disorders clinical practice · 2025Article
- Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations inFrontiers in neurology · 2023Article
- Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia.Journal of movement disorders · 2022Article
- Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.Orphanet journal of rare diseases · 2022Article
- Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family.Heliyon · 2021Article
- Treatment Responsiveness of Parkinsonism in Atypical Pantothenate Kinase-Associated Neurodegeneration.Movement disorders clinical practice · 2020Article
- Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration.Orphanet journal of rare diseases · 2019Article
- A novel homozygous variation in theNeurology international · 2019Article
- Parkinson's Disease and Metal Storage Disorders: A Systematic Review.Brain sciences · 2018Review
- Looking Deep into the Eye-of-the-Tiger in Pantothenate Kinase-Associated Neurodegeneration.AJNR. American journal of neuroradiology · 2018Article
- Missions of Journal of Movement Disorders.Journal of movement disorders · 2016Article
- Neurodegeneration with Brain Iron Accumulation.Annals of Indian Academy of NeurologyArticle
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Authors and funding
22 authors at 14 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveNeurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea.
methodsWe collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN).
resultsFour subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN.
conclusionsWe found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.
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