Results 81 to 90 of about 116,596 (303)

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Our cases of Fahr's disease and review of the literature

Medicine Science
Fahr's disease is defined as idiopathic basal ganglia calcification. Calcinosis develops in the basal ganglia and cerebral cortex due to impaired calcium and phosphorus metabolism.
Sukran Kaygisiz
doaj   +1 more source

Fluid Biomarkers of Disease Burden and Cognitive Dysfunction in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying objective biomarkers for progressive supranuclear palsy (PSP) is crucial to improving diagnosis and establishing clinical trial and treatment endpoints. This study evaluated fluid biomarkers in PSP versus controls and their associations with regional 18F‐PI‐2620 tau‐PET, clinical, and cognitive outcomes.
Roxane Dilcher, Charles B. Malpas, Stuart J. McDonald, William T. O’Brien, Craig Despott, Kelly L. Bertram, Matthew P. Pase, Lukas Frontzkowski, Meng Law, Terence J. O’Brien, Lucy Vivash   +10 more
wiley   +1 more source

Methyl CpG-binding protein 2 participating in the regulation of differentiation plasticity of nerve regeneration in the basal ganglia after ischemic stroke

Chinese Journal of Contemporary Neurology and Neurosurgery, 2013
Background It is accepted that cerebral ischemia induces neurogenesis and neural stem cells (NSCs) differentiation in non-neurogenic regions (especially in the basal ganglia).
Pan LI, Yu-ying ZHOU
doaj  

Neuropsychiatric manifestations of Fahr′s disease pathogenesis and potential for treatment

Industrial Psychiatry Journal, 2013
Fahr′s disease (FD) is a rare neuropsychiatric disease consisting of bilateral basal ganglia calcification with neurological, cognitive, and psychiatric manifestations. We report here a sporadic case of FDs with its neuropsychology.
Raheel Mushtaq, Sheikh Shoib, M. S. V. K Raju, Nilesh Naphade, Tabindah Shah, Alka Pawar   +5 more
doaj   +1 more source

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett, Abigail Dubois, Melanie Leguizamon, Alexander Song, Paula Trujillo, Colin D. McKnight, Ciaran M. Considine, Manus J. Donahue, Daniel O. Claassen   +8 more
wiley   +1 more source

The cardiovascular risk profile of patients with Primary Familial Brain Calcification

Journal of Rare Diseases
Purpose Primary Familial Brain Calcification (PFBC) is a rare neurologic disease characterized by basal ganglia calcifications. Data on cardiovascular risks in this population are limited.
Birgitta M. G. Snijders, Pim A. de Jong, Mike J. L. Peters, Bouke D. W. T. Lith, Eva H. Brilstra, Ynte M. Ruigrok, Vera P. M. Schepers, Evelien van Valen, Marielle H. Emmelot-Vonk, Huiberdina L. Koek   +9 more
doaj   +1 more source

Familial deep cavitating state with a glutathione metabolism defect

Annals of Clinical and Translational Neurology, 2019
Adult genetic disorders causing brain lesions have been mostly described as white matter vanishing diseases. We present here the investigations realized in patients referred for psychiatric disorder with magnetic resonance imaging showing atypical basal ...
John Rendu, Laetitia Van Noolen, Catherine Garrel, Julie Brocard, Isabelle Marty, Christelle Corne, Julien Fauré, Gérard Besson   +7 more
doaj   +1 more source

Virological aspects of Epstein-Barr virus infections. [PDF]

, 2005
Epstein-Barr virus (EBV) is usually maintained in an asymptomatic and latent form by the host immune system, and primarily by EBV-specific cytotoxic T cells (CTLs).
Kimura, Hiroshi, Morishima, Tsuneo, Yamashita, Nobuko   +2 more
core   +1 more source

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