Results 121 to 130 of about 103,359 (288)

Associations between N-Acetylaspartate and white matter integrity in individuals with schizophrenia and unaffected relatives. [PDF]

Psychiatry Res Neuroimaging, 2023
Roberts D, Rösler L, Wijnen JP, Thakkar KN.   +3 more
europepmc   +1 more source

Von Economo Neuron Loss in Frontotemporal Dementia: A Meta‐Analysis of Neuropathological Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Von Economo neurons (VENs) have been reported to be vulnerable to neurodegeneration in frontotemporal dementia (FTD), particularly the behavioral variant (bvFTD), but these findings have not been systematically assessed across independent brain banks.
Daniel Talmasov, Alexander F. Santillo, Patrick R. Hof   +2 more
wiley   +1 more source

Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance

Parkinson's Disease, 2010
Mutations in LRRK2 represent the most common causes of Parkinson's disease (PD) identified to date, but their penetrance is incomplete and probably due to the presence of other genetic or environmental factors required for development of the disease.
Paolo Solla, Antonino Cannas, Gianluca Floris, Maria Rita Murru, Daniela Corongiu, Stefania Tranquilli, Stefania Cuccu, Marcella Rolesu, Francesco Marrosu, Maria Giovanna Marrosu   +9 more
doaj   +1 more source

Associations between levels of oxidative nucleoside damage and cardiovascular risk in patients newly diagnosed with bipolar disorder and their unaffected relatives. [PDF]

Transl Psychiatry, 2022
Bøgh HL, Stanislaus S, Kjærstad HL, Sletved KSO, Forman JL, Poulsen HE, Vinberg M, Kessing LV, Coello K.   +8 more
europepmc   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Facial emotion-recognition deficits in patients with schizophrenia and unaffected first-degree relatives

Frontiers in Psychiatry
IntroductionThis study aimed to determine trait- and state-dependent markers of schizophrenia by investigating facial emotion-recognition (FER) deficits in remitted patients with schizophrenia and their first-degree relatives (FR).MethodsThree groups ...
Minjae Bae, Minjae Bae, Jihyun Cho, Jihyun Cho, Seunghee Won, Seunghee Won   +5 more
doaj   +1 more source

Constipation in adults with neurofibromatosis type 1

Orphanet Journal of Rare Diseases, 2017
Background Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times ...
Cecilie Ejerskov, Klaus Krogh, John R. Ostergaard, Janne L. Fassov, Annette Haagerup   +4 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Biomarker Profiles in Psychosis Risk Groups Within Unaffected Relatives Based on Familiality and Age. [PDF]

Schizophr Bull, 2021
Türközer HB, Ivleva EI, Palka J, Clementz BA, Shafee R, Pearlson GD, Sweeney JA, Keshavan MS, Gershon ES, Tamminga CA.   +9 more
europepmc   +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