Results 1 to 10 of about 1,572 (180)

Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype–Phenotype Correlation

Frontiers in Aging Neuroscience, 2022
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene and displays an inherited autosomal recessive pattern. In this study, we identified eight PANK2
Li Cao, Xing-Wang Song, Li Wen-Bin
exaly   +5 more sources

Case report: Asymmetric bilateral deep brain stimulation for the treatment of pantothenate kinase-associated neurodegeneration in a patient: a unique case of atypical PKAN with a novel heterozygous PANK2 mutation [PDF]

Frontiers in Human Neuroscience
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive hereditary neurodegenerative disorder, usually caused by mutations in the pantothenate kinase 2 (PANK2) gene.
Guo Hong, Xiao-Guang Luo
exaly   +4 more sources

Coenzyme A mitigates cystine-deprivation-induced ferroptosis by suppressing the iron-starvation response. [PDF]

FEBS J
Cystine (Cys2) deprivation in pancreatic cancer cells induces oxidative stress that destabilizes cytosolic iron–sulfur cluster (ISC) proteins, triggering an iron‐regulatory protein (IRP)‐mediated iron‐starvation response (ISR). This leads to increased iron uptake (via TFRC), an expanded labile iron pool, and ferroptosis.
Tan M, Li Y, Sang L, Wang M, Li Q, Li Z, Sun D, Wang X, Yang S.   +8 more
europepmc   +2 more sources

Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review. [PDF]

Eur J Neurol
To improve the quality of available evidence on the efficacy of DBS for treating monogenic dystonia, we conducted a systematic review in accordance with PRISMA guidelines. Based on the collected evidence, we formulated recommendations for applying DBS in monogenic dystonia.
Indelicato E, Carmona-Hidalgo B, Quintero J, Escobar JDO, Koy A, Salamon A, Tacik P, Muñoz-Delgado L, Giannini G, Reich M, Albanese A, Bäumer T, Grandas F, Jech R, Leonardos A, Mir P, Pérez-Dueñas B, Perez-Sanchez JR, Valldeoriola F, Zanni G, Vidailhet M, Rodríguez-López R, Blasco-Amaro JA, Reinhard C, Boesch S, European Reference Network for Rare Neurological Diseases (ERN‐RND).   +25 more
europepmc   +2 more sources

Exploring the causal impact of mitochondrial dysfunction on epilepsy: a mendelian randomization study [PDF]

Brazilian Journal of Medical and Biological Research
Mitochondrial dysfunction contributes critically to epileptogenesis. Therefore, identifying key mitochondrial function-associated genes in epilepsy may provide novel insights into its pathogenesis.
Lin-Ming Zhang, Fei Wang, Bing-ran Zhang, Qiu-juan Zhang, Yan-lin Zhu, Shu-ji Gao, Hao Wang, Ming-wei Liu   +7 more
doaj   +3 more sources

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

Frontiers in Neurology, 2023
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy.
Wenxia Song, Xiaoze Li
exaly   +3 more sources

Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration. [PDF]

PLoS ONE
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive movement and vision disorder in the neurodegeneration with brain iron accumulation family of diseases. PKAN is caused by mutations in PANK2, encoding pantothenate kinase 2,
Grace Li-Na Su, Suh Young Jeong, Dahlia Wafai, Wayne Tschetter, Dolly Zhen, Susan J Hayflick, Renee C Ryals   +6 more
doaj   +2 more sources

Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Bilateral globus pallidus pars interna deep brain stimulation (GPi‐DBS) is a recognized and effective treatment option for drug‐resistant dystonia patients. However, the clinical GPi‐DBS outcomes vary significantly. Herein, we explored the pre‐implant factors affecting GPi‐DBS effectiveness.
Ahmadipour M, Romito LM, Elia AE, Andreasi NG, Eleopra R, Mazzoni A, Colucci F.   +6 more
europepmc   +2 more sources

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility
Uygun Ö, Özcan A, Aras FK, Bozdemir E, Uğur İşeri S, Kırımtay K, Karabay A, Gültekin M, Akçakaya NH, Mammadov O, Kır G, İnce Günal D, Tuncer N, Özdilek FB, Özen Barut B, Köse E, Apaydın H, Ali A, Çağırıcı S, Topaloğlu P, Dinçer A, Yapıcı Z.   +21 more
europepmc   +2 more sources

Patient-Derived Cellular Models for Polytarget Precision Medicine in Pantothenate Kinase-Associated Neurodegeneration [PDF]

Pharmaceuticals, 2023
The term neurodegeneration with brain iron accumulation (NBIA) brings together a broad set of progressive and disabling neurological genetic disorders in which iron is deposited preferentially in certain areas of the brain. Among NBIA disorders, the most
Mónica Álvarez-Córdoba, Marta Talaverón-Rey, Suleva Povea-Cabello, Paula Cilleros-Holgado, David Gómez-Fernández, Rocío Piñero-Pérez, Diana Reche-López, Manuel Munuera-Cabeza, Alejandra Suárez-Carrillo, Ana Romero-González, Jose Manuel Romero-Domínguez, Alejandra López-Cabrera, José Ángel Armengol, José Antonio Sánchez-Alcázar   +13 more
doaj   +2 more sources