Results 41 to 50 of about 25,224 (259)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Early life socioeconomic circumstance and late life brain hyperintensities--a population based cohort study.

PLoS ONE, 2014
ContextThere have been many reports confirming the association between lower childhood socioeconomic circumstance and cardiovascular disease but evidence for links with cerebrovascular disease is contradictory.
Alison D Murray, Christopher J McNeil, Sima Salarirad, Lawrence J Whalley, Roger T Staff   +4 more
doaj   +1 more source

Pre-operative Cerebral Small Vessel Disease on MR Imaging Is Associated With Cerebral Hyperperfusion After Carotid Endarterectomy

Frontiers in Cardiovascular Medicine, 2021
Objectives: To determine whether pre-operative cerebral small vessel disease is associated with cerebral hyperperfusion (CH) after carotid endarterectomy (CEA).Methods: Seventy-seven patients (mean age of 66 years and 58% male) undergoing CEA for carotid
Xiaoyuan Fan, Zhichao Lai, Tianye Lin, Hui You, Juan Wei, Mingli Li, Changwei Liu, Feng Feng, Feng Feng   +8 more
doaj   +1 more source

White matter hyperintensities in subjects with bipolar disorder [PDF]

Psychiatry and Clinical Neurosciences, 2004
Abstract  There have been divergent reports on the prevalence and severity of white matter hyperintensities (WMH) on brain magnetic resonance (MR) images in subjects with bipolar disorder. In the present study, evaluations were made on the prevalence and severity of WMH in subjects with bipolar disorder using contiguous 3‐mm thick MR slices as well as ...
Kyung Heup, Ahn, In Kyoon, Lyoo, Ho Kyu, Lee, In Chan, Song, Jung Su, Oh, Jaeuk, Hwang, Juyong, Kwon, Minue J, Kim, Minjeong, Kim, Perry F, Renshaw   +9 more
openaire   +2 more sources

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Genetic risk factors underlying white matter hyperintensities and cortical atrophy

Nature Communications
White matter hyperintensities index structural abnormalities in the cerebral white matter, including axonal damage. The latter may promote atrophy of the cerebral cortex, a key feature of dementia.
Yash Patel, Jean Shin, Eeva Sliz, Ariana Tang, Aniket Mishra, Rui Xia, Edith Hofer, Hema Sekhar Reddy Rajula, Ruiqi Wang, Frauke Beyer, Katrin Horn, Max Riedl, Jing Yu, Henry Völzke, Robin Bülow, Uwe Völker, Stefan Frenzel, Katharina Wittfeld, Sandra Van der Auwera, Thomas H. Mosley, Vincent Bouteloup, Jean-Charles Lambert, Geneviève Chêne, Carole Dufouil, Christophe Tzourio, Jean-François Mangin, Rebecca F. Gottesman, Myriam Fornage, Reinhold Schmidt, Qiong Yang, Veronica Witte, Markus Scholz, Markus Loeffler, Gennady V. Roshchupkin, M. Arfan Ikram, Hans J. Grabe, Sudha Seshadri, Stephanie Debette, Tomas Paus, Zdenka Pausova   +39 more
doaj   +1 more source

Tract-defined regional white matter hyperintensities and memory

NeuroImage: Clinical, 2020
White matter hyperintensities (WMH) are common radiological findings among older adults and strong predictors of age-related cognitive decline. Recent work has implicated WMH in the pathogenesis and symptom presentation of Alzheimer's disease (AD), which
Batool Rizvi, Patrick J. Lao, Juliet Colón, Christiane Hale, Kay C. Igwe, Atul Narkhede, Mariana Budge, Jennifer J. Manly, Nicole Schupf, Adam M. Brickman   +9 more
doaj   +1 more source

White matter hyperintensity microstructure in amyloid dysmetabolism [PDF]

Journal of Cerebral Blood Flow & Metabolism, 2016
Accumulating evidence suggests associations between cerebrovascular disease (CVD) and Alzheimer’s disease (AD). White matter hyperintensities of presumed vascular origin (WMHs) are increased in subjects with mild cognitive impairment (MCI) and AD, but the exact pathomechanistic link is unknown.
Lisa F, Kalheim, Atle, Bjørnerud, Tormod, Fladby, Kjetil, Vegge, Per, Selnes   +4 more
openaire   +2 more sources

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source