Results 21 to 30 of about 1,518 (174)

Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans

Molecular Genetics and Metabolism, 2019
Panthothenate kinase-associated neurodegeneration (PKAN, OMIM 234200), is an inborn is an autosomal recessive inborn error of metabolism caused by pathogenic variants in PANK2. PANK2 encodes the enzyme pantothenate kinase 2 (EC 2.7.1.33), an essential regulatory enzyme in CoA biosynthesis. Clinical presentation includes dystonia, rigidity, bradykinesia,
Penelope E Bonnen
exaly   +4 more sources

Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma. [PDF]

Cureus, 2023
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare and complex neurodegenerative disorder. It occurs due to mutations in the sequencing of the PANK2 gene. Here, we describe the case of a 22-year-old male patient who presented with severe blepharospasm; he had abnormal facial distortions, shaky limbs, rigid muscles, and a slow pace of ...
Reddy V, Saboo K, Reddy K, Kumar S, Acharya S.   +4 more
europepmc   +3 more sources

Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration [PDF]

Case Reports in Neurological Medicine, 2015
Pantothenate kinase-associated neurodegeneration (PKAN) is usually associated with dystonia, which is typically severe and progressive over time. Pallidal stimulation (GPi DBS) has been carried out in selected cases of PKAN with drug-resistant dystonia ...
Pedro J. Garcia-Ruiz, Joaquin Ayerbe, Lydia Vela Desojo, Cici E. Feliz, Javier del Val Fernandez   +4 more
doaj   +2 more sources

A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study [PDF]

Orphanet Journal of Rare Diseases
Background Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity,
Alessandra Pereira, Carolina Fischinger Moura de Souza, Mónica Álvarez-Córdoba, Diana Reche-López, José Antonio Sánchez-Alcázar   +4 more
doaj   +2 more sources

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene

The Turkish Journal of Pediatrics, 2009
Here we report the clinical, neuroimaging, and molecular findings of a classic pantothenate kinase-associated neurodegeneration (PKAN) patient of Turkish origin.
Hakan Cangül, Ozlem Ozdemir, Tahsin Yakut, Mehmet Okan, Neil V Morgan, Birol Baytan, Manju A Kurian, Ronald Spiegel, Eamonn R Maher   +8 more
doaj   +3 more sources

A Numerical Simulation Study of Complex Multi-Source Groundwater Based on PKAN

Water
Groundwater flow problems involve complex nonlinear and spatiotemporal characteristics, where traditional numerical methods (e.g., finite element, finite difference) often encounter challenges such as low computational efficiency and insufficient accuracy when dealing with complex boundary conditions and heterogeneous media.
Lei Feng, Jun Wang
openaire   +2 more sources

Quality of Life and Related Factors in Children With Dystonia. [PDF]

Brain Behav
ABSTRACT Background Dystonia is characterized by continuous involuntary contractions of agonist and antagonist muscles, adversely affecting functionality. It is among the most prevalent forms of movement disorders observed during childhood. We aimed to measure dystonia severity, motor functions, sleep quality, constipation, and functional independence ...
Uzun Akkaya K, Serdaroglu E, Atalan Efkere P, Basaran Z, Elbasan B.   +4 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

When Pathways Converge: Iron, Lipid Peroxidation, and α-Synuclein in Ferroptosis-Driven Dopaminergic Neurodegeneration. [PDF]

J Neurochem
Dopaminergic neurons are particularly susceptible to ferroptosis. Pacemaking activity–driven calcium (Ca2+) influx increases metabolic demand and reactive oxygen species (ROS) production, promoting iron release from aconitase. Alpha‐synuclein (α‐syn) enhances iron uptake via transferrin receptor 1 (TfR1) and exhibits ferrireductase activity, converting
Sperlich CL, Stockwell BR, Farina M.
europepmc   +2 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.
Yilun Tao, Chen Zhao, Dong Han, Yiju Wei, Yiju Wei, Lihong Wang, Wenxia Song, Xiaoze Li   +7 more
doaj   +1 more source