Cargando…

Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy. PKAN is caused by biallelic mutations in the mitochondrial pantothenate kina...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tao, Yilun, Zhao, Chen, Han, Dong, Wei, Yiju, Wang, Lihong, Song, Wenxia, Li, Xiaoze
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10175671/ https://www.ncbi.nlm.nih.gov/pubmed/37188304 http://dx.doi.org/10.3389/fneur.2023.1170557

Ejemplares similares

Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration
por: Paraskevas, George P, et al.
Publicado: (2017)

Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report
por: Shi, Xulai, et al.
Publicado: (2018)

Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype–Phenotype Correlation
por: Li, Wen-Bin, et al.
Publicado: (2022)

A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
por: Ghafouri-Fard, Soudeh, et al.
Publicado: (2016)

Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration
por: Kim, Sung-Hyouk, et al.
Publicado: (2009)

Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels
por: Álvarez-Córdoba, Mónica, et al.
Publicado: (2022)

A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism
por: Seo, Joo-Hyun, et al.
Publicado: (2009)

Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD
por: Dong, Siqi, et al.
Publicado: (2023)

A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration
por: Habibi, Amir Hasan, et al.
Publicado: (2019)

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model
por: Brunetti, Dario, et al.
Publicado: (2012)

A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India
por: Angural, Arshia, et al.
Publicado: (2017)

Diagnosis and Treatment of Pantothenate Kinase-Associated Neurodegeneration (PKAN): A Systematic Review
por: Pohane, Meera R, et al.
Publicado: (2023)

Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma
por: Reddy, Venkat, et al.
Publicado: (2023)

Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels
por: Talaverón-Rey, Marta, et al.
Publicado: (2023)

Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: A case report and review of Chinese cases
por: Zhang, Yingying, et al.
Publicado: (2019)

Pantothenate kinase-associated neurodegeneration
por: Hundallah, Khalid, et al.
Publicado: (2017)

Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene
por: Yang, Dahae, et al.
Publicado: (2022)

Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2
por: Tao, Yilun, et al.
Publicado: (2021)

Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration
por: Videnovic, Aleksandar, et al.
Publicado: (2023)

Pantothenate kinase-associated neurodegeneration is not a synucleinopathy
por: Li, A, et al.
Publicado: (2013)

Precision medicine in pantothenate kinase-associated neurodegeneration
por: Álvarez-Córdoba, Mónica, et al.
Publicado: (2019)

Proposed Therapies for Pantothenate-Kinase-Associated Neurodegeneration
por: Jackowski, Suzanne
Publicado: (2019)

Redesigning therapies for pantothenate kinase–associated neurodegeneration
por: Munshi, Muhammad I., et al.
Publicado: (2022)

Late Onset Atypical Pantothenate-Kinase-Associated Neurodegeneration
por: Diaz, Natalie
Publicado: (2013)

Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration
por: Garcia-Ruiz, Pedro J., et al.
Publicado: (2015)

A therapeutic approach to pantothenate kinase associated neurodegeneration
por: Sharma, Lalit Kumar, et al.
Publicado: (2018)

Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration
por: Choayb, S., et al.
Publicado: (2021)

Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds
por: Ceccatelli Berti, Camilla, et al.
Publicado: (2020)

Magnetic resonance imaging in pantothenate kinase-2-associated neurodegeneration
por: Singh, Paramdeep, et al.
Publicado: (2012)

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans
por: Lee, Jae-Hyeok, et al.
Publicado: (2016)

Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments
por: Razmeh, Saeed, et al.
Publicado: (2018)

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
por: Marshall, Randall D., et al.
Publicado: (2019)

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration
por: Santambrogio, Paolo, et al.
Publicado: (2020)

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration
por: Klopstock, Thomas, et al.
Publicado: (2020)

PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes
por: Werning, Maike, et al.
Publicado: (2020)

Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2
por: Lu, Aijun, et al.
Publicado: (2022)

Case report: MR spectroscopy in pantothenate kinase-2 associated neurodegeneration
por: Parashari, Umesh C, et al.
Publicado: (2010)

Pantothenate kinase 2 deficiency: A neurodegeneration with brain iron accumulation
por: Yousaf, Muhammad, et al.
Publicado: (2015)

A pilot trial of deferiprone in pantothenate kinase-associated neurodegeneration patients
por: Rohani, Mohammad, et al.
Publicado: (2018)

Natural history and genotype‐phenotype correlation of pantothenate kinase‐associated neurodegeneration
por: Chang, Xuting, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_nbunu5hk7e30cosc27las08uf0