ReviewCNS neuroscience & therapeutics2020
Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration.
Review in CNS neuroscience & therapeutics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 43 citations in OpenAlex.
- Article
- Therapeutic Advances in Major NBIA Disorders: Current Strategies and Translational Challenges.Neurology international · 2026Review
- Case Report: clinical manifestations and imaging features associated with PANK2 c.940C>T variant in PKAN with symmetric basal ganglia calcification.Frontiers in genetics · 2026Article
- Article
- Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia.Annals of clinical and translational neurology · 2025Article
- RareBrain communications · 2025Article
- Pathology and treatment methods in pantothenate kinase-associated neurodegeneration.Postepy psychiatrii neurologii · 2024Review
- Dyslipidemia and hypercalciuria in a patient with pantothenate kinase 2 deficiency: A novel variant and case report.SAGE open medical case reports · 2024Article
- Diabetic Striatopathy: A Case Report of a Patient With Poor Glycaemic Control and Abnormal Movements.Cureus · 2023Article
- Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.Orphanet journal of rare diseases · 2023Article
- Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using YeastInternational journal of molecular sciences · 2023Review
- Independent and joint association of cord plasma pantothenate and cysteine levels with autism spectrum disorders and other neurodevelopmental disabilities in children born term and preterm.Precision nutrition · 2023Article
- Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration.Frontiers in neurology · 2023Review
- Cerebral Iron Deposition in Neurodegeneration.Biomolecules · 2022Review
- A Case Report of Diabetic Striatopathy: An Approach to Diagnosis Based on Clinical and Radiological Findings.Cureus · 2022Article
- Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.Orphanet journal of rare diseases · 2022Article
- NovelFrontiers in aging neuroscience · 2022Article
- Coenzyme a Biochemistry: From Neurodevelopment to Neurodegeneration.Brain sciences · 2021Review
- Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family.Heliyon · 2021Article
- Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration.Case reports in radiology · 2021Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsTo investigate the natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration.
methodsWe collected data of patients with PKAN by searching from available publications in English and Chinese. Patients diagnosed in our center (Peking University First Hospital) were also included. The difference in natural history and genotype between early-onset (<10 year of age at onset) and late-onset patients (≥10 year of age at onset) with PKAN was compared.
resultsA total of 248 patients were included. The median age at onset was 3.0 years in the early-onset group and 18.0 years in the late-onset group. Dystonia in lower limbs was the most common initial symptom in both groups. In the early-onset group, the median interval between the disease onset and occurrence of oromandibular dystonia, generalized dystonia, loss of independent ambulance was 6.0 years, 5.0 years, and 5.0 years. The corresponding values in late-onset group were 1.0 year, 4.0 years, and 6.0 years. About 20.0% died at median age of 12.5 years and 9.5 years after the onset in early-onset group. About 2.0% of the late-onset patients died during the follow-up. A total of 176 mutations were identified. Patients carrying two null alleles in PANK2 showed significantly earlier age of disease onset and progressed more rapidly to loss of independent ambulance.
conclusionsThis study provided a comprehensive review on the natural history and genotype of 248 patients with PKAN. The results will serve as a historical control data for future clinical trial on PKAN.
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