Results 61 to 70 of about 1,671 (156)

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

Annals of Clinical and Translational Neurology, Volume 12, Issue 11, Page 2305-2316, November 2025.
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
Özge Uygun, Alpay Özcan, Fuat Kaan Aras, Evrim Bozdemir, Sibel Uğur İşeri, Koray Kırımtay, Arzu Karabay, Murat Gültekin, Nihan Hande Akçakaya, Orkhan Mammadov, Gülay Kır, Dilek İnce Günal, Neşe Tuncer, Fatma Betül Özdilek, Banu Özen Barut, Ercan Köse, Hülya Apaydın, Asuman Ali, Sultan Çağırıcı, Pınar Topaloğlu, Alp Dinçer, Zuhal Yapıcı   +21 more
wiley   +1 more source

Status Dystonicus in Children: Is it more Common than we Realize?

Movement Disorders Clinical Practice, Volume 12, Issue 10, Page 1629-1634, October 2025.
Abstract Background Status dystonicus (SD) is the most severe form of dystonia, affecting predominantly children. SD is thought to be rare, but the incidence is unknown. Objective We aimed to: (1) assess the number of admissions involving SD (2) describe complications/intensive care unit (ICU) transfers, and (3) evaluate whether these changed with ...
Nadia Al Azri, Lindsey M. Vogt, Andrea LeBlanc‐Millar, Sara Breitbart, Alfonso Fasano, George M. Ibrahim, Carolina Gorodetsky   +6 more
wiley   +1 more source

Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration [PDF]

Molecular Genetics and Metabolism, 2013
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder of coenzyme A homeostasis caused by defects in the mitochondrial pantothenate kinase 2. Patients with PKAN present with a progressive neurological decline and brain iron accumulation, but general energy balance and nutrition status among these patients has not ...
Sarah, Williams, Allison, Gregory, Penelope, Hogarth, Susan J, Hayflick, Melanie B, Gillingham   +4 more
openaire   +2 more sources

Update on Genetic Chorea

European Journal of Neurology, Volume 32, Issue 10, October 2025.
This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Jesús Pérez‐Pérez, Gonzalo Olmedo‐Saura, Saül Martínez‐Horta, Sara Bernal, Javier Pagonabarraga, Jaime Kulisevsky   +5 more
wiley   +1 more source

PSMD14 Stabilizes SLC7A11 to Ameliorate Glucocorticoid‐Induced Osteoporosis by Suppressing Osteocyte Ferroptosis

Advanced Science, Volume 12, Issue 31, August 21, 2025.
Glucocorticoid‐induced osteoporosis (GIOP) triggers osteocyte ferroptosis via SLC7A11 degradation. PSMD14 stabilizes SLC7A11 by counteracting glucocorticoid‐driven ubiquitination, preserving cystine uptake and glutathione synthesis. AAV‐mediated PSMD14 delivery or its agonist Pantethine rescues osteocyte survival and bone loss in GIOP mice.
Yifeng Shi, Qian Tang, Sunren Sheng, Hongyi Jiang, Chen Jin, Chencheng Zhou, Chenglong Xie, Lin Zheng, Di Zhang, Hui Xu, Cong Xu, Haiwei Ma, Guangheng Xiang, Wenfei Ni, Xiaoyun Pan, Lei Yang, Huazi Xu, Yu Qian, Aimin Wu, Xiangyang Wang, Gang Zheng   +20 more
wiley   +1 more source

Neuropsychological functions and psychiatric symptoms in late-onset manifestation of pantothenate kinase-associated neurodegeneration: a clinical case report

, 2020
Purpose of the study: Pantothenate Kinase-associated Neurodegeneration (PKAN) is a form of Neurodegeneration with brain iron accumulation (NBIA) due to gene mutations.
Lo Buono, Viviana, Di Lorenzo, Giuseppe, Stroscio, Giuseppe, Berenati, Matteo, Sorbera, Chiara, Bramanti, Alessia, Palmeri, Rosanna, Caporale, Mina, Marino, Silvia   +8 more
core   +1 more source

How to Reproduce in the Siberian Winter: Proteome Dynamics Reveals the Timing of Reproduction‐Related Processes in an Amphipod Species Endemic to Lake Baikal

Ecology and Evolution, Volume 15, Issue 7, July 2025.
The vast Lake Baikal in Siberia is located in a region with a continental climate, implying pronounced seasonal temperature differences. Remarkably, reproducing during the extremely cold winters when the lake is covered by a thick ice layer is a common trait in Baikal's endemic littoral amphipods.
Polina Lipaeva, Polina Drozdova, Kseniya Vereshchagina, Lena Jakob, Kristin Schubert, Daria Bedulina, Till Luckenbach   +6 more
wiley   +1 more source

Fibroblasts and hiPS‐Derived Astrocytes From CoPAN Patients Showed Different Levels of Iron Overload Correlated With Senescent Phenotype

Glia, Volume 73, Issue 7, Page 1467-1482, July 2025.
Main Points CoPAN affects CoA biosynthesis and leads to iron dyshomeostasis. CoPAN d‐astrocytes show ferroptosis, iron accumulation, senescence, lipid peroxidation, mitochondrial damage and tubulin acetylation loss. Astrocytes recapitulate CoPAN disease.
Anna Cozzi, Paolo Santambrogio, Andrea Stefano Moro, Alessio Pelagatti, Alicia Rubio, Chiara Balestrucci, Ivano Di Meo, Valeria Tiranti, Sonia Levi   +8 more
wiley   +1 more source

Pantothenate Kinase-Associated Neurodegeneration (PKAN)

Asuncion RMD, Zulfiqar H, Bokhari SRA.
europepmc   +3 more sources

Oxidative Stress: Signaling Pathways, Biological Functions, and Disease

MedComm, Volume 6, Issue 7, July 2025.
Oxidative stress causes cellular damage across multiple systems, contributing to neurodegeneration (Alzheimer's, Parkinson's, Huntington's), cancer progression and resistance, cardiovascular diseases (atherosclerosis, heart failure), liver and kidney injury, metabolic disorders (diabetes, obesity), autoimmune diseases, musculoskeletal decline, retinal ...
Sixuan Liu, Jiachen Liu, Yinhuai Wang, Fei Deng, Zebin Deng   +4 more
wiley   +1 more source