Results 51 to 60 of about 1,671 (156)

Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation [PDF]

, 2019
Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic ...
Cotán, David, Álvarez Córdoba, Mónica, Villalón García, Irene, Villanueva Paz, Marina, Talaverón Rey, Marta, Salas, Joaquín J., Díaz Quintana, Antonio Jesús, Pérez Villegas, Eva Mª, Armengol, José A., Pérez Pulido, Antonio J., Fernández Khoury, Aida, Suárez Rivero, Juan M., Sánchez Alcázar, José A., Povea Cabello, Suleva, Gómez Navarro, Carmen, Mata, Mario de la   +15 more
core   +1 more source

Coenzyme A mitigates cystine‐deprivation‐induced ferroptosis by suppressing the iron‐starvation response

The FEBS Journal, Volume 293, Issue 11, Page 3288-3302, June 2026.
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.
Mingjun Tan, Yunzhan Li, Lei Sang, Min Wang, Qin Li, Zekun Li, Dongxiao Sun, Xiuchao Wang, Shengyu Yang   +8 more
wiley   +1 more source

Quality of Life and Related Factors in Children With Dystonia

Brain and Behavior, Volume 16, Issue 5, May 2026.
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 ...
Kamile Uzun Akkaya, Esra Serdaroglu, Pelin Atalan Efkere, Zekiye Basaran, Bulent Elbasan   +4 more
wiley   +1 more source

Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis

European Journal of Case Reports in Internal Medicine, 2020
We report the case of a 27-year-old man presenting with slowly progressive extrapyramidal dysfunction and learning disability considered to have a syndromic intellectual disability.
Noel Lorenzo Villalba, Santiago Díaz Nicolas, Maria Belen Alonso Ortiz, Zaida Cordoba Sosa, Saturnino Suárez Ortega, Abrar-Ahmad Zulfiqar   +5 more
doaj   +1 more source

When Pathways Converge: Iron, Lipid Peroxidation, and α‐Synuclein in Ferroptosis‐Driven Dopaminergic Neurodegeneration

Journal of Neurochemistry, Volume 170, Issue 4, April 2026.
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
Carmem L. Sperlich, Brent R. Stockwell, Marcelo Farina   +2 more
wiley   +1 more source

A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2

Biomolecules, 2022
Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurodegenerative disease caused by mutations in the pantothenate kinase 2 (PANK2) gene and associated with iron deposition in basal ganglia.
Maike Werning, Verena Dobretzberger, Martin Brenner, Ernst W. Müllner, Georg Mlynek, Kristina Djinovic-Carugo, David M. Baron, Lena Fragner, Almut T. Bischoff, Boriana Büchner, Thomas Klopstock, Wolfram Weckwerth, Ulrich Salzer   +12 more
doaj   +1 more source

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT COASY protein associated neurodegeneration is a rare, progressive autosomal recessive neuroferritinopathy due to pathogenic mutations in the COASY gene, coding for the mitochondrial located coenzyme A synthase. Clinical manifestations include seizures, progressive spasticity, dystonia, neuropathy, cognitive decline and neuropsychiatric ...
Matthew Lynch, Sophie Manoy, Claire Murray, Geoff Wallace, Nolette Pereira, Ricky Price, Anita Inwood, Jim McGill, David Coman   +8 more
wiley   +1 more source

Dystonia Scales for Children: Challenges and Obstacles in DBS Practice

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 795-799, March 2026.
Abstract Background Dystonia in pediatric patients often coexists with other movement disorders and neurodevelopmental issues. Current rating scales for evaluating pediatric deep brain stimulation (DBS) candidates are not universally applicable and often require a non‐validated combination of the existing scales.
Marcela Montiel, Carolina Gorodetsky, Laura Cif, Nardo Nardocci, Alfonso Fasano   +4 more
wiley   +1 more source

Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration

, 2010
Pantothenate kinase-associated neurodegeneration (PKAN), a progressive neurodegenerative disorder, is associated with impairment of pantothenate kinase function.
Srinivasan, Balaji, Sibon, Ody C. M., Sibon, Ody C. M.; id_orcid, Muntendam, Remco, Hayflick, Susan, Seinen, Erwin, Reijngoud, Dirk-Jan, van der Want, Johannes J., Siudeja, Katarzyna, Kayser, Oliver, Reijngoud, Dirk-Jan; id_orcid, Rana, Anil   +11 more
core   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source