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Brain involvement in X-linked Charcot-Marie-Tooth disease (CMTX) has been previously reported. We studied the brain structural and functional integrity using a multimodal neuroimaging approach in patients with no current central nervous system (CNS) symptoms, in order to further delineate the disease’s phenotype. Seventeen CMTX patients with no current CNS symptoms and 24 matched healthy controls underwent brain magnetic resonance imaging (MRI). Structural integrity was evaluated performing Gray matter analysis with voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS) of diffusion tensor imaging (DTI). Functional integrity was evaluated with resting-state functional MRI (rs-fMRI). Decreased gray matter density was detected in CMTX patients compared to healthy controls in bilateral hippocampus, left thalamus, left postcentral gyrus, left superior parietal lobule, left cerebellum crus I and II, and vermis VI. DTI analysis showed increased fractional anisotropy and radial diffusivity in the right anterior insula and increased axial diffusivity in right cerebellum crus I in CMTX patients. rs-fMRI revealed decreased spontaneous neural activity on left precentral gyrus in patients compared to healthy controls. Advanced magnetic resonance (MR) neuroimaging techniques in CMTX patients revealed structural and functional involvement of multiple motor and extra-motor brain areas. MR neuroimaging techniques have the potential to delineate the CNS phenotype of a peripheral neuropathy like CMTX.

Background: Cortical demyelination and meningeal inflammation have been detected neuropathologically in multiple sclerosis (MS) and recently in myelin oligodendrocyte glycoprotein antibody disease (MOGAD). Objectives: To assess in vivo cortical and leptomeningeal involvement in MOGAD. Methods: We prospectively evaluated 11 MOGAD and 12 relapsing-remitting MS (RRMS) patients combining three-dimensional fluid-attenuated inversion recovery (3D-FLAIR) and 3D-T1-weighted (3D-T1w) sequences at 3-Tesla magnetic resonance imaging (MRI). Leptomeningeal contrast enhancement (LMCE) was assessed on 3D-FLAIR post-gadolinium (3D-FLAIRGd). Cerebral cortical lesions (CCLs) were classified as either intracortical–subpial (IC–SP) or leukocortical (LC). Results: CCLs were present in 8/11 MOGAD and 12/12 RRMS patients, with the number of CCLs being significantly lower in MOGAD (median (interquartile range (IQR)) 3 (0.5–4) vs 12 (4.75–19), p = 0.0032). In MOGAD, IC–SP lesions were slightly more prevalent than LC lesions (2 (0–2.5) vs 1 (0–2), p = 0.6579); whereas in RRMS, IC–SP lesions were less prevalent than LC lesions (3.5 (2.75–5.5) vs 9 (2–12.75), p = 0.27). LMCE was observed in 3/11 MOGAD and 1/12 RRMS patients; MOGAD with LMCE showed an increased median number of CCLs compared with MOGAD without LMCE (8 (4–9) vs 2.5 (0.75–3.25), p = 0.34). No correlation was observed between MOGAD MRI findings and (a) MOGAD duration, (b) serum MOG-immunoglobulin G1 titers, and (c) oligoclonal band presence. Conclusion: We described cortical lesion topography and detected for the first time LMCE using 3D-FLAIRGd sequences in MOGAD patients.

Neurobrucellosis presents in various clinical forms and should always be considered in neurological patients in highly endemic areas such as the Mediterranean basin. Establishing a diagnosis can be challenging since serological testing can sometimes yield negative results. We present a rare case of a seronegative relapse of neurobrucellosis in a patient who had been successfully treated for systemic brucellosis. Oligoclonal bands, an agglutination test, and 16S rRNA sequencing of cerebrospinal fluid proved essential in unmasking a confined central nervous system relapse. This case reinforces the need for establishing diagnostic criteria for neurobrucellosis, which could potentially include oligoclonal bands and an agglutination test on the cerebrospinal fluid.

The purpose of this study is to examine the association between the development of articular cartilage pathology and knee rotation after single-bundle anterior cruciate ligament (ACL) reconstruction. Seventeen patients that underwent single-bundle ACL reconstruction and did not have any cartilage lesions at the time of surgery based on the Outerbridge classification or meniscal injury that required meniscectomy > 20% were examined by MRI and in the biomechanics laboratory at a 6-year minimum follow-up. Cartilage lesions that occurred after reconstruction were graded on MRI according to a modified Noyes scale. For cartilage evaluation, the lateral and medial femoral condyles were divided into 9 segments each (lateral, central, and medial third and each third was divided into anterior, central, and posterior segment). Tibial rotation during a pivoting task was measured with optoelectronic motion analysis system and side-to-side differences of tibial rotation between the reconstructed and contralateral intact knees were calculated. The association between the total modified Noyes scale score (outcome variable) and side-to-side differences of tibial rotation after controlling for meniscectomy and meniscal repair was investigated with hierarchical regression models. Side-to-side difference of tibial rotation was associated with total modified Noyes scale score (p = 0.015, β = 0.667, adjusted R2 = 42.1%). All patients developed new cartilage lesions in MRI located mainly at the central region of the lateral femoral condyle and less frequently in the central and anterior regions of the medial femoral condyle. Abnormally increased tibial rotation that persists after ACL-R is significantly associated with the development of new articular cartilage lesions at mean 8.4 years after reconstruction which were located mainly at the central region of the LFC and secondarily in the central and anterior regions of the MFC (more superficial lesions). These findings suggest that there is emerging evidence that abnormal rotational kinematics is a potential risk factor for the pathogenesis and onset of posttraumatic articular cartilage degeneration after ACLR. IV.

Objective: Colloid cysts of the third ventricle are benign intracranial tumors. They are most commonly presented with signs of intracranial hypertension due to obstructive hydrocephalus, including headache, nausea/vomiting and vision disturbances, whereas extrapyramidal symptoms such as tremor are very rare. Sudden death, due to abruptly developed hydrocephalus, can be also observed. Although paroxysmal symptomatology attributed to the intermittent obstruction of the foramen of Monro is considered the “classical” clinical presentation, it is rather the exception in clinical practice. Case Report: A 42-year-old woman with no medical history was admitted to the neurology department as suffering from a potential demyelinating disease due to episodes of paroxysmal tremor of her right lower limb and persistent mild gait instability, which presented 15 days prior to her arrival. She also complained of episodes of partially position-dependent bilateral headache over the last 10 years, as well as episodes of vertigo over the last 4 years. On arrival, her gait was shuffling and mildly wide-based and an intermittent tremor of her right lower limb was observed in supine and sitting positions, but not in a prone position. Brain magnetic resonance imaging (MRI) demonstrated a round cystic lesion of the third ventricle, accompanied by hydrocephalus with enlargement of lateral ventricles. MRI findings were highly indicative of a colloid cyst. The patient underwent resection of the mass and the tremor resolved after surgery. Conclusion: Given the greatly heterogeneous clinical presentation of colloid cysts, our case highlights the significance of the prompt diagnosis of this rare but potentially fatal cause of paroxysmal limb tremor.

We read with great interest the literature review by Gulko et al[1][1] that included 22 articles reporting the MR imaging brain findings of 126 patients with coronavirus disease 2019 (COVID 19). We agree with the authors that the most frequent diagnosis on MR imaging is acute and subacute infarct

Background and Objectives: The aim of the present study was to report the safety and efficacy of percutaneous navigation under local anesthesia for computed tomography-guided microwave ablation of malignant liver lesions located in the hepatic dome. Patients with primary and secondary malignant liver lesions located in the hepatic dome who underwent percutaneous computed tomography-guided microwave ablation using a computer-assisted navigation system under local anesthesia were prospectively evaluated. The primary objective was technical success. Materials and Methods: The sample consisted of 10 participants (16 lesions) with a mean age of 60.60 years (SD = 9.25 years) and a mean size of 20.37 ± 7.29 cm, and the mean follow-up time was 3.4 months (SD = 1.41) months. Results: Primary technical success was 93.75%. Tumor remnant was noticed at one month follow-up in a single metastatic lesion, which was re-treated with an ablation session, and no tumor remnant was depicted in the subsequent imaging follow-up (secondary technical success 100%). Grade I self-limited complications (according to the CIRSE classification system) included small pleural effusion (n = 1) and minor bleeding post antenna removal (n = 1) requiring nothing but observation. Conclusions: the findings of the present study indicate that percutaneous navigation under local anesthesia is a safe and efficacious approach for computed tomography-guided microwave ablation of malignant liver lesions located in the hepatic dome. Large randomized controlled studies are warranted to observe treatment effectiveness and compare the results with those of other options.

Chronic cannabis use and schizophrenia are both thought to affect reward processing. While behavioural and neural effects on reward processing have been investigated in both conditions, their interaction has not been studied, although chronic cannabis use is common among these patients. In the present study eighty-nine participants divided into four groups (control chronic cannabis users and non-users; schizophrenia patient cannabis users and non-users) performed a two-choice decision task, preceded by monetary cues (high/low reward/punishment or neutral), while being scanned using functional magnetic resonance imaging. Reward and punishment anticipation resulted in activation of regions of interest including the thalamus, striatum, amygdala and insula. Chronic cannabis use and schizophrenia had opposing effects on reward anticipation sensitivity. More specifically control users and patient non-users showed faster behavioural responses and increased activity in anterior/posterior insula for high magnitude cues compared to control non-users and patient users. The same interaction pattern was observed in the activation of the right thalamus for reward versus punishment cues. This study provided evidence for interaction of chronic cannabis use and schizophrenia on reward processing and highlights the need for future research addressing the significance of this interaction for the pathophysiology of these conditions and its clinical consequences.

The involvement of the right hemisphere (RH) in language, and especially after aphasia resulting from left hemisphere (LH) lesions, has been recently highlighted. The present study investigates white matter structure in the right hemisphere of 25 chronic post-stroke aphasic patients after LH lesions in comparison with 24 healthy controls, focusing on the four cortico-cortical tracts that link posterior parietal and temporal language-related areas with Broca’s region in the inferior frontal gyrus of the LH: the Superior Longitudinal Fasciculi II and III (SLF II and SLF III), the Arcuate Fasciculus (AF), and the Temporo-Frontal extreme capsule Fasciculus (TFexcF). Additionally, the relationship of these RH white matter tracts to language performance was examined. The patients with post-stroke aphasia in the chronic phase and the healthy control participants underwent diffusion tensor imaging (DTI) examination. The aphasic patients were assessed with standard aphasia tests. The results demonstrated increased axial diffusivity in the RH tracts of the aphasic patients. Patients were then divided according to the extent of the left hemisphere white matter loss. Correlations of language performance with radial diffusivity (RD) in the right hemisphere homologs of the tracts examined were demonstrated for the TFexcF, SLF III, and AF in the subgroup with limited damage to the LH language networks and only with the TFexcF in the subgroup with extensive damage. The results argue in favor of compensatory roles of the right hemisphere tracts in language functions when the LH networks are disrupted.

Background and purpose : The cerebellum has a pivotal role in regulating human behavior; yet whether this function is mediated only through contralateral cerebro-cerebellar pathways is under-investigated. Thus, we examined feed-backward and feed-forward ipsilateral and contralateral cerebro-cerebellar connections using a detereministic diffusion tensor imaging (DTI) algorithm, the robustness of which was also estimated using phantom DTI data. Materials and methods : Fifty-one healthy controls (22–60 years old; 15 males/36 females) were scanned in a 3T MRI scanner with a 30-direction DTI sequence. Multiple region-of-interest (ROI) method was applied for the reconstruction of the ipsilateral and contralateral (based on cerebellar seed ROI) fronto-ponto-cerebellar (FPC), parieto-ponto-cerebellar (PPC), temporo-ponto-cerebellar (TPC), occipito-ponto-cerebellar (OPC) and dentate-rubro-thalamo-cortical (DRTC) tract bilaterally using the Brainance DTI Suite. A realistic diffusion MR phantom was used to evaluate the fiber tracking methodology for 16 fibers containing crossing, kissing, splitting and bending configurations. Results Both contralateral and ipsilateral FPC, PPC, OPC and ipsilateral DRTC tracts were successfully reconstructed; the contralateral DRTC tract was not reconstructed in all subjects. Also, the TPC tract was not reproduced in several subjects mostly regarding the contralateral connection. Descriptive DTI measures (number of fibers, fractional anisotropy, radial and axial diffusivity) are presented for each tract. Regarding phantom data, Brainance DTI Suite returned a dataset of 16 fibers that almost perfectly matched the 16 ground truth fibers. Conclusions We identified ipsilateral and contralateral connections using a clinically applicable DTI sequence, a robust deterministic algorithm and an unbiased methodology, which can be applied in daily practice in different brain pathologies.

ObjectiveCerebellar disease burden and cerebro-cerebellar connectivity alterations are poorly characterised in amyotrophic lateral sclerosis (ALS) despite the likely contribution of cerebellar pathology to the clinical heterogeneity of the condition.MethodsA prospective imaging study has been undertaken with 271 participants to systematically evaluate cerebellar grey and white matter alterations, cerebellar peduncle integrity and cerebro-cerebellar connectivity in ALS. Participants were stratified into four groups: (1) patients testing positive for GGGGCC repeat expansions inC9orf72, (2) patients carrying an intermediate-length repeat expansion inATXN2, (3) patients without established ALS-associated mutations and (4) healthy controls. Additionally, the cerebellar profile of a single patient with ALS who had anATXN2allele length of 62 was evaluated. Cortical thickness, grey matter and white matter volumes were calculated in each cerebellar lobule complemented by morphometric analyses to characterise genotype-associated atrophy patterns. A Bayesian segmentation algorithm was used for superior cerebellar peduncle volumetry. White matter diffusivity parameters were appraised both within the cerebellum and in the cerebellar peduncles. Cerebro-cerebellar connectivity was assessed using deterministic tractography.ResultsCerebellar pathology was confined to lobules I–V of the anterior lobe in patients with sporadic ALS in contrast to the considerable posterior lobe and vermis disease burden identified inC9orf72mutation carriers. Patients with intermediateATXN2expansions did not exhibit significant cerebellar pathology.ConclusionsFocal rather than global cerebellar degeneration characterises ALS. Pathognomonic ALS symptoms which are typically attributed to other anatomical regions, such as dysarthria, dysphagia, pseudobulbar affect, eye movement abnormalities and cognitive deficits, may be modulated, exacerbated or partially driven by cerebellar changes in ALS.

To compare different parameters of the sphericity index of the ablation zone following microwave ablation (MWA) on cirrhotic- and healthy-liver parenchyma in a series of patients treated with the same MWA system. Institutional database research identified 46 patients (77 lesions) who underwent MWA. “Cirrhotic liver group” (CLG) included 35 hepatocellular carcinoma lesions; “healthy liver group” (HLG) included 42 metastatic lesions. The long axis (LAD), short axis 1 (SAD-1) and 2 (SAD-2), the mean SAD-1 and SAD-2 (mSAD) diameter (in mm) and the mean sphericity (mSPH) index of the ablation zones were evaluated for each treated lesion in both groups from baseline to follow-up. A mixed model analysis of variance reported significant main effect of group on SAD-1 (p = 0.023), SAD-2 (p = 0.010) and mSAD (p = 0.010), with HLG showing lower values compared to CLG. No differences were detected on the LAD (pFDR = 0.089; d = 0.45), and mSPH (pFDR = 0.148, d = 0.40) between the two groups. However, a significant main effect of time was found on LAD (p < 0.001), SAD-1 (p < 0.001), SAD-2 (p < 0.001) and mSAD (p < 0.001), with decreased values in all indices at follow-up compared to baseline. A significant group by time interaction was observed on mSPH (p = 0.044); HLG had significantly lower mSPH at follow-up where CLG did not show any significant change. Our findings indicate that although in cirrhotic liver short axis diameter of the MWA zone seems to be significantly longer, this has no effect on the sphericity index which showed no significant difference between cirrhotic vs. healthy liver lesions. On the contrary, on one month follow-up ablation zones tend to become significant more ellipsoid in healthy whilst remains stable in cirrhotic liver.

Approximately 50% of colorectal cancer patients will develop metastases during the course of the disease. Local or locoregional therapies for the treatment of liver metastases are used in the management of oligometastatic colorectal liver disease, especially in nonsurgical candidates. Thermal ablation (TA) is recommended in the treatment of limited liver metastases as free-standing therapy or in combination with surgery as long as all visible disease can be eradicated. Percutaneous TA has been proven as a safe and efficacious therapy offering sustained local tumor control and improved patient survival. Continuous technological advances in diagnostic imaging and guidance tools, the evolution of devices allowing for optimization of ablation parameters, as well as the ability to perform margin assessment have improved the efficacy of ablation. This allows resectable small volume diseases to be cured with percutaneous ablation. The ongoing detailed information and increasing understanding of tumor biology, genetics, and tissue biomarkers that impact oncologic outcomes as well as their implications on the results of ablation have further allowed for treatment customization and improved oncologic outcomes even in those with more aggressive tumor biology. The purpose of this review is to present the most common indications for image-guided percutaneous ablation in colorectal cancer liver metastases, to describe technical considerations, and to discuss relevant peer-reviewed evidence on this topic. The growing role of imaging and image-guidance as well as controversies regarding several devices are addressed.

Purpose. To retrospectively evaluate the effectiveness of intra-articular application of Sluijter-Teixera Poisson pulsed radiofrequency (STP PRF) in knee osteoarthritis symptomatic patients with chronic pain refractory to conservative therapies. Materials and Methods. Institutional database research of two centers identified 39 cases of knee osteoarthritis patients treated with intra-articular STP PRF. Pain prior and one-week and one-, three-, six-, and twelve-month post-STP PRF was compared by means of a numeric visual scale (NVS) questionnaire. Cardiovascular and Interventional Radiological Society of Europe (CIRSE) classification system was used for complications reporting. Mean patient age was 71.59 ± 11.99 years, mean body mass index was 30.23 ± 4.69, and male/female ratio was 9/30. Results. Mean baseline pain score was 8.31 ± 1.70 NVS units. This was reduced to a mean value of 0.90 ± 1.50 NVS units one-week post-RF, 1.08 ± 1.53 at one month, 1.54 ± 1.88 at three months, 2.33 ± 2.17 at six months, and 3.23 ± 2.23 at 12 months of follow-up p < 0.01 . Pain decrease of more than 4 NVS units was noticed in 35/39 knees (89.7%) at first week, 36/39 knees (92.3%) at first month, 35/39 knees (89.7%) at three months, 32/39 knees (82.1%) at six months, and 25/39 knees (64.1%) at one year. There was no recurrence during the follow-up. No complication was observed. Conclusions. Percutaneous, intra-articular application of STP PRF is an effective and safe technique for chronic pain reduction in patients with knee osteoarthritis. Results seem to be reproducible and long lasting with significant patient satisfaction at 12-month follow-up.

Biallelic mutations in AP5Z1 are known to cause a rare, autosomal recessive, complex form of hereditary spastic paraplegia (HSP) referred to as SPG48 (MIM#613647)[1]. To date, only 11 SPG48 cases have been reported. The clinical spectrum of SPG48 is complex and heterogeneous, presenting with neuropathy, ataxia, dystonia and parkinsonism in addition to the spastic paraplegia (SP). AP5Z1 codes for the ζsubunit of the AP-5 complex, implicated in vesicular-mediated intracellular sorting and trafficking of cargo proteins[1] and functional studies demonstrate accumulation of multilamellar structures(endolysosomes) in SPG48 skin fibroblasts[2].

Atypical forms of demyelinating diseases with tumor-like lesions and aggressive course represent a diagnostic and therapeutic challenge for neurologists. Herein, we describe a 50-year-old woman presenting with subacute onset of left hemiparesis, memory difficulties and headache. Brain MRI revealed a tumefactive right frontal-parietal lesion with perilesional edema, mass effect and homogenous post-contrast enhancement, along with other small atypical lesions in the white-matter. Brain biopsy of cerebral lesion ruled out lymphoma or any other neoplastic process and patient placed on corticosteroids with complete clinical/radiological remission. Two years after disease initiation, there was disease exacerbation with reappearance of the tumor-like mass. The patient initially responded to high doses of corticosteroids but soon became resistant. Plasma-exchange sessions were not able to limit disease burden. Resistance to therapeutic efforts led to a second biopsy that showed perivascular demyelination, predominantly consisting of macrophages, with a small number of T and B lymphocytes, and the presence of reactive astrocytes, typical of Creutzfeldt-Peters cells. The patient received high doses of cyclophosphamide with substantial clinical/radiological response but relapsed after 7-intensive cycles. She received 4-weekly doses of rituximab with disease exacerbation and brainstem involvement. She eventually died with complicated pneumonia. We present a very rare case of recurrent tumefactive demyelinating lesions, with atypical tumor-like characteristics, with initial response to corticosteroids and cyclophosphamide, but subsequent development of drug-resistance and unexpected exacerbation upon rituximab administration. Our clinical case raises therapeutic dilemmas and points to the need for immediate and appropriate immunosuppression in difficult to treat tumefactive CNS lesions with Marburg-like features.

Objective To explore the association between both self-reported quality and quantity sleep characteristics and frailty status in a large non–sex-specific population of older individuals in Greece. Design Cross-sectional study. Setting and Participants In total, 1984 older individuals (≥65 years old) were drawn from the Hellenic Longitudinal Investigation of Aging and Diet (HELIAD). Measures Frailty was assessed using 3 different definitions, the Frailty Index (FI), the Tilburg Frailty Indicator (TFI), and the Groningen Frailty Indicator (GFI). Sleep quality was evaluated through the Sleep Index II, which includes 9 of the 12 self-reported items of the Medical Outcomes Study-Sleep Scale. To examine sleep duration, participants were asked to report on how many hours they slept each night during the past 4 weeks. Logistic regression models adjusted for multiple covariates were explored. Additional analyses, stratified by gender, adjusting for sleep-related medications and excluding participants diagnosed with dementia, were also performed. Results In total, 389 (20%), 619 (31.9%), and 608 (31.3%) participants were categorized as frail according to the FI, the TFI, and the GFI respectively. Sleep quality was significantly associated with frailty in all models. Even after adjusting for subjective sleep duration, compared with participants who subjectively reported high sleep quality, those with low sleep quality had 3.7, 2.6, and 2.5 more times to be frail as measured with FI, TFI, and GFI respectively. Regarding the associations between frailty and self-reported sleep duration, sex-specific associations were observed: prolonged sleep duration was associated with frailty in the subsample of male participants. Conclusions and Implications The present study shows a strong correlation between subjective sleep quality and frailty status, contributing substantial information to the growing literature demonstrating that sleep is associated with older people's overall health. Sleep complaints should not be underestimated, and older individuals who self-report sleep disorders should be further assessed for frailty.

The presence of short-term/working memory deficits in aphasia has been well-established in the relevant literature. Moreover, recent studies have demonstrated such deficits in both the verbal and visuospatial modalities in patients with aphasia following a left hemisphere stroke. The present study aims to investigate the prevalence and possible lesion correlates of modality-dependent and modality-independent short-term/working memory impairment in aphasia. For this purpose, 54 individuals with post-stroke aphasia were recruited. Aphasic disturbances were assessed with the Boston Diagnostic Aphasia Examination (BDAE) and memory deficits with the digit span and Corsi block-tapping tasks. Structural imaging data were obtained for each patient and lesion sites were identified and coded by two independent neuroradiologists for 16 predetermined left hemisphere areas. Results clearly showed that visuospatial deficits were relatively common, even though verbal deficits are more frequent, and further illustrate the existence of distinct performance patterns within each modality. Analyses revealed comparable lesion extent and locations between patients demonstrating modality-independent and patients demonstrating modality-dependent deficits. Hierarchical regression analyses indicated that deficient performance on digit span forward, indicating impaired verbal short-term memory, was associated with lesions encompassing the inferior frontal gyrus and the inferior parietal cortex. Similar analyses for digit span backward, and the two conditions of Corsi did not yield significant results. However, behavioral data indicate a dissociation between forward and backward visuospatial span, which could be explained by selectively impaired primacy and recency effects. The emergence of modality-dependent and modality-independent deficits is further discussed in relation to hemispheric lateralization during the course of human evolution.

ObjectiveX linked Charcot-Marie-Tooth disease (CMTX) is a hereditary neuropathy caused by mutations in GJB1 coding for connexin-32, a gap junction protein expressed in Schwann cells, but also found in oligodendrocytes. Four patients with CMTX developing central nervous system (CNS) demyelination compatible with multiple sclerosis (MS) have been individually published. We presently sought to systematically investigate the relationship between CMTX and MS.MethodsOver 20 years, 70 consecutive patients (36 men) with GJB1 mutations were identified at our Neurogenetics Unit, Athens, Greece, and assessed for clinical features suggestive of MS. Additionally, 18 patients with CMTX without CNS symptoms and 18 matched controls underwent brain MRI to investigate incidental findings. Serum from patients with CMTX and MS was tested for CNS immunoreactivity.ResultsWe identified three patients with CMTX who developed clinical features suggestive of inflammatory CNS demyelination fulfilling MS diagnostic criteria. The resulting 20-year MS incidence (4.3%) differed significantly from the highest background 20-year MS incidence ever reported from Greece (p=0.00039). The search for incidental brain MRI findings identified two CMTX cases (11%) with lesions suggestive of focal demyelination compared with 0 control. Moreover, 10 cases in the CMTX cohort had hyperintensity in the splenium of the corpus callosum compared with 0 control (p=0.0002). No specific CNS-reactive humoral factors were identified in patients with CMTX and MS.ConclusionsWe have demonstrated a higher than expected frequency of MS in patients with CMTX and identified incidental focal demyelinating lesions on brain MRI in patients with CMTX without CNS symptoms. This provides circumstantial evidence for GJB1 mutations acting as a possible MS risk factor.

A prospective, standardised neuroimaging protocol was implemented to characterise mesial temporal lobe pathology in amyotrophic lateral sclerosis, Alzheimer's disease and healthy controls focusing on the evaluation of interconnected white and grey matter structures. “Hippocampal pathology in Amyotrophic Lateral Sclerosis: selective vulnerability of subfields and their associated projections” [1]. High-resolution diffusion tensor and structural imaging data were acquired on a 3 T MRI platform using standardised sequence parameters. The integrity of the fornix and the perforant pathway was assessed by tractography, to provide fractional anisotropy, axial diffusivity and radial diffusivity measures. Quantitative structural imaging was used to estimate the total intracranial volume, total hippocampal volumes and hippocampal subfield volumes for each participant. Raw white- and grey-matter measures, demographic and clinical data are available online at ‘Mendeley Data’. Amyotrophic lateral sclerosis and Alzheimer's disease exhibit divergent hippocampal profiles.

The increasing evidence for a pure amnestic-like profile in multiple sclerosis (MS) introduces the role of hippocampal formation in MS episodic memory function. The aim of the present study was to investigate structural and functional hippocampal changes in mildly-disabled MS patients with and without memory impairment. Thirty-one MS patients with or without memory impairment and 16 healthy controls (HC) underwent MRI in a 3.0 T MRI scanner. Patients were categorized as memory preserved (MP) and memory impaired (MI) based on verbal and visual memory scores extracted from the Brief Repeatable Neuropsychological Battery. The acquisition protocol included high-resolution 3D-T1-weighted, diffusion weighted imaging and echo-planar imaging sequences for the analysis of hippocampal gray matter (GM) density, perforant pathway area (PPA) tractography, and hippocampal functional connectivity (FC), respectively. Compared to HC, we found decreased left and bilateral hippocampal GM density in MP and MI patients, respectively, decreased fractional anisotropy and increased radial diffusivity on left PPA in MI patients, and reduced FC in MI between left hippocampus and left superior frontal gyrus, precuneus/posterior cingulated cortex and lateral occipital gyrus/angular gyrus. The only differences between MP and MI were found in FC. Specifically, MP patients showed FC changes between left hippocampus and right temporo-occipital fusiform/lingual gyrus (increased FC) as well as supramarginal gyrus (decreased FC). In conclusion, we highlight the early detection of structural hippocampal changes in MS without neuropsychologically-detected memory deficits and decreased hippocampal FC in MS patients with impaired memory performance, when both GM density and PPA integrity are affected.

Percutaneous ablation is an expanding, minimally invasive approach for small- to medium-sized renal masses. The purpose of this study is to review safety, and mid-term efficacy of percutaneous microwave ablation (MWA) for Renal Cell Carcinoma (RCC) treatment using a high power microwave system.Institutional database research identified 50 consecutive patients with a single lesion resembling renal cell carcinoma in CT and MRI who underwent percutaneous microwave ablation using a high power microwave system. All patients underwent biopsy on the same session with ablation using an 18G semi-automatic soft tissue biopsy needle. Contrast-enhanced computed tomography or magnetic resonance imaging was used for post-ablation follow-up. Patient and tumour characteristics, microwave technique, complications and pattern of recurrence were evaluated.Mean patient age was 74 years (male-female: 31-19). Average lesion size was 3.1 cm (range 2.0-4.3 cm). Biopsy results report RCC (n = 48), inflammatory myofibroblastic tumour (n = 1), and non-diagnostic sample (n = 1). The 3-year overall survival was 95.8% (46/48). Two patients died during the 3-year follow-up period due to causes unrelated to the MW ablation and to the RCC. Minor complications including haematomas requiring nothing but observation occurred at 4% (2/50) of the cases. Local recurrence of 6.25% (3/48) was observed with 2/3 cases being re-treated achieving a total clinical success of 97.9% (47/48 lesions).Percutaneous microwave ablation of RCC using a high power microwave system is a safe and efficacious technique for the treatment of small- to medium-sized renal masses.

Pathological laughing and crying (PLC) is common in several neurological and psychiatric diseases and is associated with a distributed network involving the frontal cortex, the brainstem and cortico-pontine-cerebellar circuits. By applying multimodal neuroimaging approach, we examined the neuroanatomical substrate of PLC in a sample of patients with amyotrophic lateral sclerosis (ALS).We studied 56 non-demented ALS patients and 25 healthy controls (HC). PLC was measured in ALS using the Center of Neurologic Study Lability Scale (CNS-LS; cutoff score: 13). All participants underwent 3D-T1-weighted and 30-directional diffusion-weighted imaging at 3T. Voxel-based morphometry and tract-based spatial-statistics analysis was used to examine gray matter (GM) and white matter (WM) differences between ALS patients with and without PLC (ALS-PLC and ALS-nonPLC, respectively). Comparisons were restricted to regions with detected differences between ALS and HC, controlling for age, gender, total intracranial volume and depressive symptoms.In regions with significant differences between ALS and HC, ALS-PLC patients showed decreased GM volume in left orbitofrontal cortex, frontal operculum, and putamen and bilateral frontal poles, compared to ALS-nonPLC. They also had decreased fractional anisotropy in left cingulum bundle and posterior corona radiata. WM abnormalities were additionally detected in WM associative and ponto-cerebellar tracts (using a more liberal threshold).PLC in ALS is driven by both GM and WM abnormalities which highlight the role of circuits rather than isolated centers in the emergence of this condition. ALS is suggested as a useful natural experimental model to study PLC.

To evaluate safety and efficacy of radiofrequency ablation (RFA) in the treatment of painful intra-articular osteoid osteoma.During the last 3 years, 15 patients underwent computed tomography (CT)-guided biopsy and RFA of symptomatic intra-articular osteoid osteoma. In order to assess and sample the nidus, a coaxial bone biopsy system was used. Biopsy was performed and followed by ablation session with osteoid osteoma protocol in all cases. Procedure time (i.e. drilling including local anaesthesia and ablation), amount of scans, the results of biopsy and pain reduction during follow-up period are reported.Access to the nidus through normal bone, biopsy and electrode insertion was technically feasible in all cases. Median procedure time was 54 min. Histologic verification of osteoid osteoma was performed in all cases. Median amount CT scans, performed to control correct positioning of the drill and precise electrode placement within the nidus was 9. There were no complications or material failure reported in our study. There was no need for protective techniques of the articular cartilage. Pain reduction was significant from the first morning post ablation and complete at the one week and during the follow-up period. No recurrences were noted.RFA under CT guidance is a safe and efficient technique for the treatment of painful intra-articular osteoid osteoma. Imaging guidance, extra-articular access through normal bone and exact positioning of the needle-electrode inside the nidus facilitate safety of the technique and prevention of damage to the articular cartilage.

Various MRI markers have been applied to support the diagnosis of progressive supranuclear palsy (PSP), such as midbrain diameter and surface, superior cerebellar peduncle (SCP) width, midbrain to pons (m/p) diameter and surface ratio and the Magnetic Resonance Parkinsonism Index (MRPI). These markers provide excellent diagnostic accuracy in discriminating Richardson's syndrome from other causes of Parkinsonism. Idiopathic normal pressure hydrocephalus (iNPH) may mimic Richardson's syndrome, particularly in cases of subtle opthalmokinetic abnormalities. The aim of this study was to compare these MRI markers in PSP and iNPH and examine their diagnostic accuracy.Forty-three patients with probable PSP, 17 patients with iNPH, and 29 controls were included. Midbrain diameter and surface, SCP width, m/p diameter and surface ratio and the MRPI were recorded. The "hummingbird sign," "morning glory sign" and "mickey mouse sign" were also evaluated. Analysis of covariance, chi-squared test, and ROC curve analysis were used as appropriate.All MRI measurements differed significantly among the three study groups. Comparison of PSP and iNPH patients produced the following significant differences: midbrain diameter (P .0001), m/p diameter ratio (P .0001), SCP width (P = .050), and MRPI (P = .049). None of these markers produced combined high (80%) specificity and sensitivity. Qualitative MRI signs were specific, but lacked sensitivity.Midbrain morphology in iNPH may resemble that of PSP. Established MRI markers of midbrain and SCP atrophy cannot confidently differentiate PSP from iNPH. MRI markers do not provide combined high sensitivity and specificity for the differential diagnosis of PSP from iNPH.

IgG4-related disease (IgG4-RD) is a disorder with various clinical manifestations. Central nervous system (CNS) involvement is well recognized, with hypertrophic pachymeningitis and hypophysitis being the most common manifestations. Spinal cord involvement is an extremely rare manifestation. We present the first case of an IgG4-RD patient with spinal cord parenchymal disease and concurrent hypophysitis. We review also the current literature about CNS parenchymal involvement in the context of IgG4-RD. A young female presented with clinical symptoms of myelitis. Cervical spinal cord magnetic resonance imaging (MRI) displayed features of longitudinally extensive transverse myelitis (LETM). Brain MRI showed a small number of high-intensity lesions in the deep white matter and enlargement of hypophysis with homogeneous gadolinium enhancement (asymptomatic hypophysitis). Diagnostic workup revealed elevated IgG4 serum levels (146 mg/dL). Our patient fulfilled the organ-specific diagnostic criteria of IgG4-hypophysitis. Treatment with intravenous glucocorticoids led to rapid clinical response, and to the substantial resolution of imaging findings. Azathioprine was used as a maintenance treatment. One relapse occurred 2 years after the initial diagnosis and patient was re-treated with glucocorticoids. Three years after relapse, patient is in remission with azathioprine. We present the first case of myelitis with radiological features of LETM associated with increased IgG4 serum levels and the simultaneous presence of asymptomatic IgG4-related hypophysitis.

The purpose of this current pictorial review is to define the solitary round pulmonary lesion (SRPL), to familiarize with its prevalence in the pediatric population, and, moreover, to educate radiologists on its vast differential diagnosis and imaging manifestations. Furthermore, by highlighting valuable clues, it intends to assist radiologists efficiently partake in its diagnosis, work-up, and follow-up in order to narrow down the differential diagnosis by working alongside the clinician and combining clinical information, lab results, and radiological findings.

Objectives: We examined the neuroanatomical substrate of different pain catastrophizing (PC) dimensions (i.e. rumination; magnification; helplessness) in patients with medication-overuse headache (MOH). Methods: We included 18 MOH patients who were administered the Pain Catastrophizing Scale (PCS) and scanned in a 3T-MRI. We conducted whole-brain volumetric and resting-state functional connectivity (FC) analysis to examine the association between gray matter (GM) density and FC strength and PCS dimensions controlling for depression and anxiety. Results: Higher total PCS score was associated with decreased GM density in precentral and inferior temporal gyrus, increased FC between middle temporal gyrus and cerebellum and reduced FC between precuneus and inferior temporal gyrus, as well as between frontal pole and temporal fusiform cortex. Regarding PCS dimensions, we mainly observed the involvement of a) somatosensory cortex, supramarginal gyrus, basal ganglia, core default-mode network (DMN) in rumination; b) somatosensory cortex, core DMN, dorsal medial prefrontal cortex (DMPFC)-DMN subsystem and cerebellum in magnification; and c) temporal regions, DMN and basal ganglia in helplessness. Conclusion: PC dimensions are associated with a specific structural and functional neuroanatomical pattern, which is different from the pattern observed when PC is considered as a single score. The involvement of basal ganglia and cerebellum needs further investigation.

Increased reaction time intra-subject variability (RT-ISV) in fast decision tasks has been confirmed in patients with schizophrenia and has been hypothesized to result from a deficit in the control of attention. Here, an attentional task and functional brain imaging were used to probe the neural correlates of increased RT-ISV in schizophrenia.Thirty patients and 30 age and sex matched controls performed the Eriksen flanker spatial attention task with concurrent measurement of brain activity using functional magnetic resonance imaging (fMRI). The behavioral measures included accuracy, mean, standard deviation of RT (RTSD), coefficient of variation of RT (RTCV) and ex-Gaussian model of RT distribution parameters (mu, sigma and tau).Larger mean RT and Ex-Gaussian mu was observed for patients compared to controls. The group difference was larger for incongruent (attentionally demanding) versus congruent trials confirming a deficit in the control of spatial attention for patients. Significant increase in RT-ISV measures (RTSD, sigma and tau) for patients compared to controls was observed and was not modulated by trial congruency. Attention modulation (congruency effect) resulted in activation of bilateral frontal and parietal areas that was not different between patients and controls. Right middle frontal, right superior temporal and bilateral cingulate areas were more active in controls compared to patients independent of congruency. Activation in ROIs extracted from attention (congruency) and group related areas correlated with RT-ISV measures (especially RTCV and tau). Hypo-activation of the right middle frontal area correlated with increased tau specifically in patients.Hypo-activity of the right prefrontal cortex predicted increased RT-ISV in schizophrenia. This effect was unrelated to the effects of spatial attention and might be linked to a deficit in the inhibitory control of action for these patients. Keywords: fMRI, Attention, Prefrontal cortex, Reaction time, Intra-subject variability, Psychosis

Introduction. A wide range of medical conditions may mimic multiple sclerosis. Among them, cerebrovascular diseases, including moyamoya disease, need to be excluded since they share common clinical features and radiographic findings with multiple sclerosis. Case Report. A 44-year-old woman experienced transient numbness of her right sided face and arm and was referred to our unit due to small brain lesions in magnetic resonance imaging, with a possible diagnosis of multiple sclerosis. Neurological examination was unremarkable except for plantar reflexes and jerky deep tendon reflexes. Brain magnetic resonance angiography revealed findings typically seen in moyamoya disease, confirmed with digital subtraction angiography. Antiplatelet therapy started, but few days later, she developed suddenly global aphasia and right hemiparesis (National Institutes of Health Stroke Scale/NIHSS 6). Brain magnetic resonance imaging revealed acute infarct in the distribution of the left middle cerebral artery. At her discharge, she was significantly improved (NIHSS 3). Conclusion. Diagnosis of multiple sclerosis is often challenging. In particular, in young patients with transient neurological symptoms and atypical white matter lesions in magnetic resonance imaging, cerebrovascular disorders such as moyamoya disease should be considered in the differential diagnosis. Detailed clinical and neuroimaging evaluation are mandatory for the correct diagnosis.

MOG-antibody associated demyelinating disease is a new emerging diagnostic entity. Recently, international recommendations for testing of anti-MOG antibodies were published. Herein, we describe a case of anti-MOG antibody-associated demyelinating disease initially diagnosed as typical MS, and, at presentation, not fulfilling the proposed recommendations. This case highlights the expanding spectrum of anti-MOG antibody-associated demyelinating disease, illustrating the distinct and overlapping features of MS and MOG-antibody associated demyelinating disease, providing evidence that on rare occasions these recommendations may prove too restrictive.

Dimethyl fumarate (DMF), approved for relapsing-remitting multiple sclerosis (RRMS), exerts immune-mediated mechanisms crucial for T-cell survival …

Background The cerebellum has a crucial role in mood regulation. While cerebellar grey matter (GM) alterations have been previously reported in bipolar disorder (BD), cerebro-cerebellar white matter (WM) connectivity alterations and cerebellar GM profiles have not been characterised in the context of predominant polarity (PP) and onset polarity (OP) subphenotypes of BD patients which is the aim of the present study. Methods Forty-two euthymic BD patients stratified for PP and OP and 42 healthy controls (HC) were included in this quantitative neuroimaging study to evaluate cerebellar GM patterns and cerebro-cerebellar WM connections. Diffusion tensor tractography was used to characterise afferent and efferent cerebro-cerebellar tract integrity. False discovery rate corrections were applied in post-hoc comparisons. Results BD patients exhibited higher fractional anisotropy (FA) in fronto-ponto-cerebellar tracts bilaterally compared to HC. Subphenotype-specific FA profiles were identified within the BD cohort. Regarding PP subgroups, we found FA changes in a) left contralateral fronto-ponto-cerebellar tract (depressive-PP > HC) and b) contralateral/ipsilateral fronto-ponto-cerebellar tracts bilaterally (manic-PP > HC). Regarding OP subgroups, we observed FA changes in a) left/right contralateral fronto-ponto-cerebellar tracts (depressive-OP > HC) and b) all fronto-ponto-cerebellar, most parieto-ponto-cerebellar and right contralateral occipito-ponto-cerebellar tracts (manic-OP>HC). In general, greater and more widespread cerebro-cerebellar changes were observed in manic-OP patients than in depressive-OP patients compared to HC. Manic-OP showed higher FA compared to depressive-OP patients in several afferent WM tracts. No GM differences were identified between BD and HC and across BD subgroups. Conclusions Our findings highlight fronto-ponto-cerebellar connectivity alterations in euthymic BD. Polarity-related subphenotypes have distinctive cerebro-cerebellar WM signatures with potential clinical and pathobiological implications.

“Large airway diseases” is being used as an all-encompassing phrase to describe a broad spectrum of pathological entities, which involves the trachea, main, lobar, and segmental bronchi of up to 3 mm diameter. Imaging modalities such as radiography, computed tomography, and magnetic resonance imaging contribute to the identification and diagnosis of each entity. Knowledge of clinical information, normal cross-sectional anatomy, and imaging characteristics of large airway diseases is necessary for appropriate radiologic evaluation. This review provides information about congenital and acquired diseases of the large airways in the pediatric population.

Autoimmune hemolytic anemia (AIHA) has been reported after treatment with an anti-CD52 monoclonal antibody (alemtuzumab) in 7 MS cases.1 All underwent positive direct Coombs test, i.e., antibodies to red blood cells (RBCs); however, no autoantibody (Ab) specificity was identified.1 Aquaporin 1 (AQP1), expressed in RBCs2 and human astrocytes,3,4 has been linked with autoimmunity: in some AIHA cases (Abs to Colton group antigens located on AQP1)2 and in some patients with CNS demyelinating disorders.3,4 Therefore, AQP1-Abs deserve investigation as the possible linking cause of the concurrent presence of the 2 disorders. Here, we present a patient characterized with MS, however, with extensive longitudinal transverse myelitis (LETM), who developed AIHA in parallel with brain demyelinating relapse, 1 year after alemtuzumab infusion; interestingly, a high AQP1-Ab titer was detected, which dropped in parallel with patient recovery.

The purposes of the study were to evaluate the safety and long-term efficacy of augmented vertebroplasty using a polyether ether ketone (PEEK) implant, for the treatment of lumbar or thoracic vertebral fractures (A2 according to the Magerl’s AO classification) and to analyze pain reduction, height restoration, and complications during a 2-year follow-up period. Prospective non-randomized evaluation was performed for 21 painful split vertebral fractures (20 patients, 14 females, 6 males; mean age 72.80 ± 10.991) treated with percutaneous vertebral augmentation using a PEEK device, under fluoroscopic guidance. Pain before the procedure and after 6, 12, and 24 months was evaluated using a numeric visual scale (NVS) questionnaire. Imaging was performed by CT and X-rays. The minimum craniocaudal diameter at the level of the fracture and the maximum craniocaudal diameter at the middle of the fractured vertebra were measured. Statistical analysis was performed to evaluate pain decrease and height restoration. Successful implant positioning was achieved in all cases. No major clinical complications were observed. Comparing the mean pain scores at baseline (8.69 ± 1.138) and the first day after the treatment (1.19 ± 1.424), there was a decrease of 7.50 NVS units (p

Hippocampal pathology in Amyotrophic Lateral Sclerosis (ALS) remains surprisingly under recognized despite compelling evidence from neuropsychology, neuroimaging and neuropathology studies. Hippocampal dysfunction contributes significantly to the clinical heterogeneity of ALS and requires structure-specific cognitive and neuroimaging tools for accurate in vivo evaluation. Recent imaging studies have generated unprecedented insights into the presymptomatic and longitudinal processes affecting this structure and have contributed to the characterisation of both focal and network-level changes. Emerging neuropsychology data suggest that memory deficits in ALS may be independent from executive dysfunction. In the era of precision medicine, where the development of individualized care strategies and patient stratification for clinical trials are key priorities, the comprehensive review of hippocampal dysfunction in ALS is particularly timely.

To prospectively evaluate the effectiveness of intra-articular application of pulsed radiofrequency (PRF) combined with viscosupplementation in patients with knee osteoarthritis suffering from chronic pain refractory to conservative therapies.During a 30-month period, PRF combined with viscosupplementation was performed on 53 cases of knee osteoarthritis (45 patients, 8/45 with bilateral knee osteoarthritis). Pre-operational imaging included standard knee X-rays on anterior-posterior and lateral views used to evaluate patients according to the Kellgren-Lawrence classification. Pain, prior, one week/one, 6 and 12 months post were compared by means of a numeric visual scale (NVS) questionnaire.Mean pain score prior to PRF was 8.19 ± 1.4 NVS units. This score was reduced to a mean value of 2.47 ± 2.5 NVS units at 1 week after, 2.55 ± 2.6 at 1 month, 3.1 ± 2.8 at 6 months and 5.02 ± 3.09 at 12 months of follow-up (p 0.01). Overall mobility improved in 47/53 (88.6%) patients. No complication was observed.Combining PRF with viscous supplementation is an effective and safe technique for palliative management of chronic pain in patients with knee osteoarthritis. Results seem to be reproducible and long lasting. There seems to be a need of repeating the session at 1 year.

The association between gray matter (GM) density and neurophysiologic changes is still unclear in amyotrophic lateral sclerosis (ALS). We evaluated the relationship between GM density and motor system integrity combining voxel-based morphometry (VBM) and transcranial magnetic stimulation (TMS) in ALS. We included 17 ALS patients and 22 healthy controls (HC) who underwent 3D-T1-weighted imaging. Among the ALS group, we applied left motor cortex single-pulse TMS. We used whole-brain VBM comparing ALS and HC in GM density. We also conducted regression analysis to examine correlations between GM density and the following TMS parameters: motor evoked potential (MEP)/M ratio and central motor conduction time (CMCT). We found significantly decreased GM density in ALS patients in several frontal, temporal, parietal/occipital and cerebellar regions (p

BACKGROUND AND PURPOSE: Differential diagnosis of multiple system atrophy, progressive supranuclear palsy, and corticobasal degeneration from Parkinson disease on clinical grounds is often difficult. MR imaging biomarkers could assist in a more accurate diagnosis. We examined the utility of MR imaging surface measurements (MR imaging planimetry) in the differential diagnosis of patients with parkinsonism. MATERIALS AND METHODS: Fifty-two patients with Parkinson-plus (progressive supranuclear palsy, n = 24; corticobasal degeneration, n = 9; multiple system atrophy, n = 19), 18 patients with Parkinson disease, and 15 healthy controls were included. Corpus callosum, midbrain, and pons surfaces; relevant indices; and the Magnetic Resonance Parkinsonism Index were calculated. Corpus callosum subsection analysis was performed, and the corpus callosum posteroanterior gradient was introduced. RESULTS: A Magnetic Resonance Parkinsonism Index value of >12.6 discriminated progressive supranuclear palsy from other causes of parkinsonism with a 91% sensitivity and 95% specificity. No planimetry measurement could accurately discriminate those with multiple system atrophy with parkinsonism from patients with Parkinson disease. A corpus callosum posteroanterior gradient value of ≤191 was highly specific (97%) and moderately sensitive (75%) for the diagnosis of corticobasal degeneration versus all other groups. A midbrain-to-corpus callosum posteroanterior gradient ratio of ≤0.45 was highly indicative of progressive supranuclear palsy over corticobasal degeneration (sensitivity 86%, specificity 88%). CONCLUSIONS: MR imaging planimetry measurements are potent imaging markers of progressive supranuclear palsy and promising markers of corticobasal degeneration but do not seem to assist in the diagnosis of multiple system atrophy with parkinsonism.