Diagnostics (Basel)
August 2025
: Spinal diffusion tensor imaging (sDTI) remains a challenging method for the selective evaluation of key anatomical structures, like pyramidal tracts (PTs) and dorsal columns (DCs), and for reliably quantifying diffusion metrics such as fractional anisotropy (FA), radial diffusivity (RD), mean diffusivity (MD), and axial diffusivity (AD). This prospective, single-center study aimed to assess the reproducibility, robustness, and reliability of an optimized axial sDTI protocol, specifically intended for long fiber tracts. : We developed an optimized Stejskal-Tanner sequence for high-resolution, axial sDTI of the cervical spinal cord at 3.
View Article and Find Full Text PDFBackground And Objectives: Temporal lobe epilepsy (TLE) is commonly associated with mesiotemporal pathology and widespread alterations of gray and white matter structures. Evidence supports a progressive condition, although the temporal evolution of TLE is poorly defined. In this ENIGMA-Epilepsy study, we aim to investigate structural alterations in gray and white matter across the adult lifespan in patients with TLE by charting both gray and white matter changes and explore the covariance of age-related alterations in both compartments.
View Article and Find Full Text PDFAutomated brain volumetry shows promise in improving the screening and monitoring of neurodegenerative diseases. However, the reliability of measurements across different scanners and software remains uncertain. This study assessed the reliability of gray matter, white matter, and total brain volume measurements from seven volumetry tools, using six scanners across two scanning sessions, performed within 2 h the same day, in twelve subjects.
View Article and Find Full Text PDF: Iterative reconstruction (IR) techniques were developed to address the shortcomings of filtered back projection (FBP), yet research comparing different types of IR is still missing. This work investigates how reducing radiation dose influences both image quality and noise profiles when using two iterative reconstruction techniques-Sinogram-Affirmed Iterative Reconstruction (SAFIRE) and Advanced Modeled Iterative Reconstruction (ADMIRE)-in comparison to filtered back projection (FBP) in non-enhanced head CT (NECT). : In this retrospective single-center study, 21 consecutive patients underwent standard NECT on a 128-slice CT scanner.
View Article and Find Full Text PDFDiagnostics (Basel)
June 2025
Assessing hippocampal pathology in epilepsy is challenging, and improving diagnostic accuracy can benefit from deep learning image reconstruction, standardized imaging protocols, and advanced post-processing methods. This study compares T2 TSE DRB (Deep Resolve Boost) sequences with standard T2 TSE sequences for hippocampal segmentation and volumetry using FreeSurfer, focusing on how DRB affects image acquisition time without compromising diagnostic accuracy. FreeSurfer (version 7.
View Article and Find Full Text PDFSickle-cell disease (SCD) is a group of inherited blood disorders in which a mutation in the β-globin (HBB) gene causes red blood cells to produce abnormal hemoglobin, known as Hb S. SCD is characterized by an autosomal-recessive pattern of inheritance, implying that for a child to manifest the condition, they must inherit an Hb S allele from both parents (HbSS) or one Hb S allele and another β-globin variant, such as Hb C or β-thalassemia (HbSC, HbS/β-thal). It has been observed that (heterozygote) carriers of one copy of the sickle-cell trait (HbAS) are typically healthy and can even gain partial protection from severe malaria.
View Article and Find Full Text PDFThe thalamus is the brain's central communication hub, playing a key role in processing and relaying sensorimotor and cognitive information between the cerebral cortex and other brain regions. It consists of specific and non-specific nuclei, each with a different role. Specific thalamic nuclei relay sensory and motor information to specific cortical and subcortical regions to ensure precise communication.
View Article and Find Full Text PDFThe bed nucleus of the stria terminalis (BST) and the ventromedial striatum (consisting of the head of the caudate nucleus (hCN) and the nucleus accumbens (NAcc)) are both part of complex, foremost limbic networks involved in a variety of neuropsychiatric conditions. However, data on functional or structural connections between the BST and hCN in humans are scarce. In an earlier study using both diffusion tensor magnetic resonance imaging (DTI) and conventional histology we found a pathway from the BST to the orbitofrontal cortex apparently passing directly through the hCN.
View Article and Find Full Text PDFBackground: Spasticity represents a core clinical feature of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) patients. Nonetheless, its pathophysiological substrate is poorly investigated. We assessed the microstructural integrity of the corticospinal tract (CST) using diffusion MRI (dMRI) via profilometry analysis to understand its possible role in the development of spasticity in ARSACS.
View Article and Find Full Text PDFThe UltraCortex repository houses magnetic resonance imaging data of the human brain obtained at an ultra-high field strength of 9.4 T. It contains 86 structural MR images with spatial resolutions ranging from 0.
View Article and Find Full Text PDFMoyamoya disease (MMD) may lead to perfusion deficits, stroke and brain atrophy in the long-term. Our aim was to analyse whole-brain volumetry of a large cohort of Moyamoya disease patients compared to healthy controls. 3D T1w MRI sequences of adult Moyamoya disease patients treated at our centre between 2016 and 2022 without prior revascularization were analysed for whole-brain volumetry (AssemblyNet) and compared age-controlled to healthy controls.
View Article and Find Full Text PDFGrowing evidence is underscoring the neuroprotective properties of melatonin, particularly its anti-inflammatory, anti-apoptotic, and antioxidant effects. Preliminary findings suggest that it has the potential to attenuate secondary brain injury following intracerebral hemorrhage (ICH). This observational study aimed to investigate the effect of melatonin on post-ICH mortality and functional outcomes.
View Article and Find Full Text PDFBackground: Sex-related differences in acute ischemic stroke may affect outcomes, yet evidence remains inconsistent. This large-scale study investigated sex-related differences in clinical presentation, peri-interventional parameters, and outcomes after endovascular thrombectomy (EVT) for large vessel occlusion (LVO) using data from the German Stroke Registry-Endovascular Treatment (GSR-ET).
Methods: We analyzed 11.
Neurol Genet
April 2025
Objectives: GAA- ataxia (SCA27B) is a recently reported late-onset ataxia caused by a GAA repeat expansion in intron 1 of the gene. After the clinical observation of superior cerebellar peduncle (SCP) involvement in some affected patients, we sought to verify the prevalence of this finding in our cohort and 4 additional independent cohorts of patients with SCA27B.
Methods: We performed a retrospective review of the brain MRI scans of a total of 87 patients (median age at MRI 69 years; range 28-88 years) from different independent cohorts to assess the presence of SCP involvement, defined as abnormally high T2 signal along the SCP tract.
Background: Spinocerebellar ataxia type 2 (SCA2) is a rare, inherited neurodegenerative disease characterized by progressive deterioration in both motor coordination and cognitive function. Atrophy of the cerebellum, brainstem, and spinal cord are core features of SCA2; however, the evolution and pattern of whole-brain atrophy in SCA2 remain unclear.
Objective: We undertook a multisite, structural magnetic resonance imaging (MRI) study to comprehensively characterize the neurodegeneration profile of SCA2.
Am J Hum Genet
January 2025
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
View Article and Find Full Text PDFBackground/objectives: This retrospective observational study aimed to investigate the perioperative outcome in Malignant Peripheral Nerve Sheath Tumors (MPNSTs) with and without relation to Neurofibromatosis Type 1 (NF1) and to detect possible influencing factors.
Methods: Clinical reports, histopathological evaluations, imaging, and treatment characteristics were reviewed in 35 operated MPNSTs in 33 patients. Possible predictive valuables included disease type, preoperative tumor volume, SUV and MIB-1 proliferation index, resection margins, the presence of metastasis, and whether radio-/chemotherapy was received.
Objective: Spinocerebellar ataxia type 2 (SCA2) is a rare, inherited neurodegenerative disease characterised by progressive deterioration in both motor coordination and cognitive function. Atrophy of the cerebellum, brainstem, and spinal cord are core features of SCA2, however the evolution and pattern of whole-brain atrophy in SCA2 remain unclear. We undertook a multi-site, structural magnetic resonance imaging (MRI) study to comprehensively characterize the neurodegeneration profile of SCA2.
View Article and Find Full Text PDFEndothelial dysfunction represents a potential pathomechanism of neurological post-COVID-19 syndrome (PCS). A recent study demonstrated reduced cerebrovascular reactivity (CVR) in patients with PCS. The aim of this pilot study was to prospectively assess CVR in patients with PCS using breath-hold functional MRI (bh-fMRI).
View Article and Find Full Text PDFDiagnostics (Basel)
August 2024
In neuroimaging, there is no equivalent alternative to magnetic resonance imaging (MRI). However, image acquisitions are generally time-consuming, which may limit utilization in some cases, e.g.
View Article and Find Full Text PDFThe CSF1R gene, located on chromosome 5, encodes a 108 kDa protein and plays a critical role in regulating myeloid cell function. Mutations in CSF1R have been identified as a cause of a rare white matter disease called adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP, also known as CSF1R-related leukoencephalopathy), characterized by progressive neurological dysfunction. This study aimed to broaden the genetic basis of ALSP by identifying novel CSF1R variants in patients with characteristic clinical and imaging features of ALSP.
View Article and Find Full Text PDFBackground: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Spastic Paraplegia Type 7 (SPG7) are paradigmatic spastic ataxias (SPAX) with suggested white matter (WM) involvement. Aim of this work was to thoroughly disentangle the degree of WM involvement in these conditions, evaluating both macrostructure and microstructure via the analysis of diffusion MRI (dMRI) data.
Material And Methods: In this multi-center prospective study, ARSACS and SPG7 patients and Healthy Controls (HC) were enrolled, all undergoing a standardized dMRI protocol and a clinimetrics evaluation including the Scale for the Assessment and Rating of Ataxia (SARA).