RESUMEN
Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati-type. The predominant phenotypes observed in the cohort of 3 individuals were craniofacial anomalies reminiscent of Treacher Collins syndrome. We subsequently identified 17 additional individuals with 12 unique heterozygous variants in POLR1A and observed numerous additional phenotypes including neurodevelopmental abnormalities and structural cardiac defects, in combination with highly prevalent craniofacial anomalies and variable limb defects. To understand the pathogenesis of this pleiotropy, we modeled an allelic series of POLR1A variants in vitro and in vivo. In vitro assessments demonstrate variable effects of individual pathogenic variants on ribosomal RNA synthesis and nucleolar morphology, which supports the possibility of variant-specific phenotypic effects in affected individuals. To further explore variant-specific effects in vivo, we used CRISPR-Cas9 gene editing to recapitulate two human variants in mice. Additionally, spatiotemporal requirements for Polr1a in developmental lineages contributing to congenital anomalies in affected individuals were examined via conditional mutagenesis in neural crest cells (face and heart), the second heart field (cardiac outflow tract and right ventricle), and forebrain precursors in mice. Consistent with its ubiquitous role in the essential function of ribosome biogenesis, we observed that loss of Polr1a in any of these lineages causes cell-autonomous apoptosis resulting in embryonic malformations. Altogether, our work greatly expands the phenotype of human POLR1A-related disorders and demonstrates variant-specific effects that provide insights into the underlying pathogenesis of ribosomopathies.
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Anomalías Craneofaciales , Disostosis Mandibulofacial , Humanos , Ratones , Animales , Disostosis Mandibulofacial/genética , Apoptosis , Mutagénesis , Ribosomas/genética , Fenotipo , Cresta Neural/patología , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/patologíaRESUMEN
In higher eukaryotic cells, a string of nucleosomes, where long genomic DNA is wrapped around core histones, are rather irregularly folded into a number of condensed chromatin domains, which have been revealed by super-resolution imaging and Hi-C technologies. Inside these domains, nucleosomes fluctuate and locally behave like a liquid. The behavior of chromatin may be highly related to DNA transaction activities such as transcription and repair, which are often upregulated in cancer cells. To investigate chromatin behavior in cancer cells and compare those of cancer and non-cancer cells, we focused on oncogenic-HRAS (Gly12Val)-transformed mouse fibroblasts CIRAS-3 cells and their parental 10T1/2 cells. CIRAS-3 cells are tumorigenic and highly metastatic. First, we found that HRAS-induced transformation altered not only chromosome structure, but also nuclear morphology in the cell. Using single-nucleosome imaging/tracking in live cells, we demonstrated that nucleosomes are locally more constrained in CIRAS-3 cells than in 10T1/2 cells. Consistently, heterochromatin marked with H3K27me3 was upregulated in CIRAS-3 cells. Finally, Hi-C analysis showed enriched interactions of the B-B compartment in CIRAS-3 cells, which likely represents transcriptionally inactive chromatin. Increased heterochromatin may play an important role in cell migration, as they have been reported to increase during metastasis. Our study also suggests that single-nucleosome imaging provides new insights into how local chromatin is structured in living cells.
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Cromatina , Fibroblastos , Histonas , Nucleosomas , Proteínas Proto-Oncogénicas p21(ras) , Animales , Ratones , Fibroblastos/metabolismo , Cromatina/metabolismo , Cromatina/genética , Nucleosomas/metabolismo , Proteínas Proto-Oncogénicas p21(ras)/genética , Proteínas Proto-Oncogénicas p21(ras)/metabolismo , Histonas/metabolismo , Transformación Celular Neoplásica/genética , Transformación Celular Neoplásica/metabolismo , Heterocromatina/metabolismo , Heterocromatina/genéticaRESUMEN
Although brain morphological abnormalities have been reported in anorexia nervosa (AN), the reliability and reproducibility of previous studies were limited due to insufficient sample sizes, which prevented exploratory analysis of the whole brain as opposed to regions of interest (ROIs). Objective was to identify brain morphological abnormalities in AN and the association with severity of AN by brain structural magnetic resonance imaging (MRI) in a multicenter study, and to conduct exploratory analysis of the whole brain. Here, we conducted a cross-sectional multicenter study using T1-weighted imaging (T1WI) data collected between May 2014 and February 2019 in Japan. We analyzed MRI data from 103 female AN patients (58 anorexia nervosa restricting type [ANR] and 45 anorexia nervosa binge-purging type [ANBP]) and 102 age-matched female healthy controls (HC). MRI data from five centers were preprocessed using the latest harmonization method to correct for intercenter differences. Gray matter volume (GMV) was calculated from T1WI data of all participants. Of the 205 participants, we obtained severity of eating disorder symptom scores from 179 participants, including 87 in the AN group (51 ANR, 36 ANBP) and 92 HC using the Eating Disorder Examination Questionnaire (EDE-Q) 6.0. GMV reduction were observed in the AN brain, including the bilateral cerebellum, middle and posterior cingulate gyrus, supplementary motor cortex, precentral gyrus medial segment, and thalamus. In addition, the orbitofrontal cortex (OFC), ventromedial prefrontal cortex (vmPFC), rostral anterior cingulate cortex (ACC), and posterior insula volumes showed positive correlations with severity of symptoms. This multicenter study was conducted with a large sample size to identify brain morphological abnormalities in AN. The findings provide a better understanding of the pathogenesis of AN and have potential for the development of brain imaging biomarkers of AN. Trial Registration: UMIN000017456. https://center6.umin.ac.jp/cgi-open-bin/icdr/ctr_view.cgi?recptno=R000019303 .
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Anorexia Nerviosa , Sustancia Gris , Corteza Insular , Imagen por Resonancia Magnética , Neuroimagen , Corteza Prefrontal , Humanos , Femenino , Anorexia Nerviosa/patología , Anorexia Nerviosa/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Sustancia Gris/patología , Sustancia Gris/diagnóstico por imagen , Adulto , Estudios Transversales , Adulto Joven , Neuroimagen/métodos , Corteza Prefrontal/patología , Corteza Prefrontal/diagnóstico por imagen , Corteza Insular/diagnóstico por imagen , Corteza Insular/patología , Adolescente , Japón , Encéfalo/patología , Encéfalo/diagnóstico por imagen , Reproducibilidad de los ResultadosRESUMEN
Since Robert Feulgen first stained DNA in the cell, visualizing genome chromatin has been a central issue in cell biology to uncover how chromatin is organized and behaves in the cell. To approach this issue, we have developed single-molecule imaging of nucleosomes, a basic unit of chromatin, to unveil local nucleosome behavior in living cells. In this study, we investigated behaviors of nucleosomes with various histone H4 mutants in living HeLa cells to address the role of H4 tail acetylation, including H4K16Ac and others, which are generally associated with more transcriptionally active chromatin regions. We ectopically expressed wild-type (wt) or mutated H4s (H4K16 point; H4K5,8,12,16 quadruple; and H4 tail deletion) fused with HaloTag in HeLa cells. Cells that expressed wtH4-Halo, H4K16-Halo mutants, and multiple H4-Halo mutants had euchromatin-concentrated distribution. Consistently, the genomic regions of the wtH4-Halo nucleosomes corresponded to Hi-C contact domains (or topologically associating domains, TADs) with active chromatin marks (A-compartment). Utilizing single-nucleosome imaging, we found that none of the H4 deacetylation or acetylation mimicked H4 mutants altered the overall local nucleosome motion. This finding suggests that H4 mutant nucleosomes embedded in the condensed euchromatic domains with excess endogenous H4 nucleosomes cannot cause an observable change in the local motion. Interestingly, H4 with four lysine-to-arginine mutations displayed a substantial freely diffusing fraction in the nucleoplasm, whereas H4 with a truncated N-terminal tail was incorporated in heterochromatic regions as well as euchromatin. Our study indicates the power of single-nucleosome imaging to understand individual histone/nucleosome behavior reflecting chromatin environments in living cells.
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Eucromatina , Histonas , Mutación , Nucleosomas , Humanos , Nucleosomas/metabolismo , Nucleosomas/química , Histonas/metabolismo , Histonas/química , Células HeLa , Eucromatina/metabolismo , Eucromatina/química , AcetilaciónRESUMEN
Zero echo time (ZTE) sequence is recent advanced magnetic resonance technique that utilizes ultrafast readouts to capture signals from short-T2 tissues. This sequence enables T2- and T2* weighted imaging of tissues with short intrinsic relaxation times by using an extremely short TE, and are increasingly used in the musculoskeletal system. We review the imaging physics of these sequences, practical limitations, and image reconstruction, and then discuss the clinical utilities in various disorders of the musculoskeletal system. ZTE can be readily incorporated into the clinical workflow, and is a promising technique to avoid unnecessary radiation exposure, cost, and time-consuming by computed tomography in some cases. LEVEL OF EVIDENCE: 4 TECHNICAL EFFICACY: Stage 1.
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Procesamiento de Imagen Asistido por Computador , Sistema Musculoesquelético , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Sistema Musculoesquelético/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Imagen por Resonancia Magnética/métodosRESUMEN
OBJECTIVES: Previous studies have shown possible choroid plexus (CP) dysfunction in Alzheimer's disease (AD) and highlighted CP enlargement on magnetic resonance imaging (MRI) as a predictive factor of AD. However, few studies have assessed the relationship between CP volume (CPV) and mild cognitive impairment (MCI). In this large elderly population study, we investigated the changes in CPV in patients with MCI using MRI above 65 years. METHODS: This cross-sectional study included 2144 participants (median age, 69 years; 60.9% females) who underwent 3T MRI; they were grouped as 218 MCI participants and 1904 cognitively healthy controls. The total intracranial volume (ICV), total brain volume (TBV), CPV, hippocampal volume (HV), and lateral ventricle volume (LVV) were calculated. RESULTS: CPV/ICV was a significant independent predictor of MCI (p < 0.01) after adjusting for potential confounders (age, sex, hypertension, hyperlipidemia, diabetes, and education level). The CPV/ICV ratio was also a significant independent predictor of MCI after adjusting for the TBV/ICV ratio (p = 0.022) or HV/ICV ratio (p = 0.017), in addition to potential confounders. The CPV was significantly correlated with the LVV (r = 0.97, p < 0.01). CONCLUSION: We identified a relationship between CPV and MCI, which could not be explained by the degree of brain atrophy. Our results support CP dysfunction in MCI. CLINICAL RELEVANCE STATEMENT: Choroid plexus volume measurement may serve as a valuable imaging biomarker for diagnosing and monitoring mild cognitive impairment. The enlargement of the choroid plexus, independent of brain atrophy, suggests its potential role in mild cognitive impairment pathology. KEY POINTS: ⢠The study examines choroid plexus volume in relation to cognitive decline in elderly. ⢠Enlarged choroid plexus volume independently indicates mild cognitive impairment presence. ⢠Choroid plexus volume could be a specific biomarker for early mild cognitive impairment diagnosis.
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Plexo Coroideo , Disfunción Cognitiva , Imagen por Resonancia Magnética , Humanos , Femenino , Disfunción Cognitiva/diagnóstico por imagen , Masculino , Plexo Coroideo/diagnóstico por imagen , Plexo Coroideo/patología , Anciano , Imagen por Resonancia Magnética/métodos , Estudios Transversales , Estudios de Cohortes , Tamaño de los ÓrganosRESUMEN
PURPOSE: To evaluate the diagnostic value of T1-weighted 3D fast spin-echo sequence (CUBE) with deep learning-based reconstruction (DLR) for depiction of pituitary adenoma and parasellar regions on contrast-enhanced MRI. METHODS: We evaluated 24 patients with pituitary adenoma or residual tumor using CUBE with and without DLR, 1-mm slice thickness 2D T1WI (1-mm 2D T1WI) with DLR, and 3D spoiled gradient echo sequence (SPGR) as contrast-enhanced MRI. Depiction scores of pituitary adenoma and parasellar regions were assigned by two neuroradiologists, and contrast-to-noise ratio (CNR) was calculated. RESULTS: CUBE with DLR showed significantly higher scores for depicting pituitary adenoma or residual tumor compared to CUBE without DLR, 1-mm 2D T1WI with DLR, and SPGR (p < 0.01). The depiction score for delineation of the boundary between adenoma and the cavernous sinus was higher for CUBE with DLR than for 1-mm 2D T1WI with DLR (p = 0.01), but the difference was not significant when compared to SPGR (p = 0.20). CUBE with DLR had better interobserver agreement for evaluating adenomas than 1-mm 2D T1WI with DLR (Kappa values, 0.75 vs. 0.41). The CNR of the adenoma to the brain parenchyma increased to a ratio of 3.6 (obtained by dividing 13.7, CNR of CUBE with DLR, by 3.8, that without DLR, p < 0.01). CUBE with DLR had a significantly higher CNR than SPGR, but not 1-mm 2D T1WI with DLR. CONCLUSION: On the contrast-enhanced MRI, compared to CUBE without DLR, 1-mm 2D T1WI with DLR and SPGR, CUBE with DLR improves the depiction of pituitary adenoma and parasellar regions.
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Adenoma , Aprendizaje Profundo , Imagenología Tridimensional , Imagen por Resonancia Magnética , Neoplasias Hipofisarias , Humanos , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/cirugía , Masculino , Femenino , Adenoma/diagnóstico por imagen , Adenoma/cirugía , Imagenología Tridimensional/métodos , Persona de Mediana Edad , Imagen por Resonancia Magnética/métodos , Adulto , Anciano , Medios de Contraste , Interpretación de Imagen Asistida por Computador/métodos , Estudios Retrospectivos , Neoplasia Residual/diagnóstico por imagenRESUMEN
ABSTRACT: We obtained breath-hold zero TE (ZTE) magnetic resonance imaging for the evaluation of pulmonary arteriovenous malformations before and after embolotherapy. To the best of our knowledge, there have been no reports of ZTE for the entire lung imaging in single breath-hold scan time such as 20 seconds. Breath-hold ZTE magnetic resonance imaging can be a useful technique for magnetic resonance-based follow-up of vascular lung diseases without using contrast media, reducing the undesired artifacts from metallic devices.
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Fístula Arteriovenosa , Malformaciones Arteriovenosas , Embolización Terapéutica , Arteria Pulmonar/anomalías , Venas Pulmonares/anomalías , Humanos , Estudios de Factibilidad , Imagen por Resonancia Magnética/métodos , Contencion de la Respiración , Malformaciones Arteriovenosas/diagnóstico por imagen , Malformaciones Arteriovenosas/terapia , ArtefactosRESUMEN
Eukaryotic genome DNA is wrapped around core histones and forms a nucleosome structure. Together with associated proteins and RNAs, these nucleosomes are organized three-dimensionally in the cell as chromatin. Emerging evidence demonstrates that chromatin consists of rather irregular and variable nucleosome arrangements without the regular fiber structure and that its dynamic behavior plays a critical role in regulating various genome functions. Single-nucleosome imaging is a promising method to investigate chromatin behavior in living cells. It reveals local chromatin motion, which reflects chromatin organization not observed in chemically fixed cells. The motion data is like a gold mine. Data analyses from many aspects bring us more and more information that contributes to better understanding of genome functions. In this review article, we describe imaging of single-nucleosomes and their tracked behavior through oblique illumination microscopy. We also discuss applications of this technique, especially in elucidating nucleolar organization in living cells.
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Cromatina , Nucleosomas , Ensamble y Desensamble de Cromatina , ADN/química , Histonas/metabolismoRESUMEN
OBJECTIVE: This study aimed to seek a new method of evaluation and surrogate markers for diffuse neuropsychiatric SLE (NPSLE). METHODS: We enrolled 44 patients with SLE between 2017 and 2020 who fulfilled at least one of three specific inclusion criteria: high disease activity, abnormal findings (cerebrospinal fluid [CSF] examination, brain MRI, or electroencephalography), or history of neuropsychiatric illness. Psychiatric symptom rating scales (PSYRATS) were evaluated retrospectively. The primary end point was the PSYRATS positivity rate in SLE patients who had not been diagnosed with diffuse NPSLE. RESULTS: Based on the 1999 ACR classifications, 7 out of the 44 patients evaluated using PSYRATS had been diagnosed with diffuse NPSLE. PSYRATS positivity was seen in 13 out of 37 SLE patients (35.1%) who had not been diagnosed with diffuse NPSLE, and all these patients were positive for Montgomery-Åsberg Depression Rating Scale (MADRS), an indicator of depression state in PSYRATS. Additionally, in the 20 SLE patients exhibiting depression symptoms who were MADRS-positive, CSF concentrations of the neuroinflammatory markers homovanillic acid (HVA; P = 0.0400), stromal cell-derived factor-1α (SDF-1α; P = 0.0431) and stem cell growth factor-ß (SCGF-1ß; P = 0.0061) were significantly reduced compared with the 24 MADRS-negative SLE patients, and the levels of HVA, SDF-1α and SCGF-1ß correlated with one another (P < 0.05). CONCLUSION: Many patients with active SLE have subclinical depression, and MADRS evaluation of neuropsychiatric symptoms is useful for detecting them. Additionally, the decrease in CSF levels of HVA, SDF-1 α and SCGF-1ß reflects the same pathology, and these may serve as surrogate markers.
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Lupus Eritematoso Sistémico , Vasculitis por Lupus del Sistema Nervioso Central , Humanos , Quimiocina CXCL12 , Ácido Homovanílico , Vasculitis por Lupus del Sistema Nervioso Central/diagnóstico , Estudios Retrospectivos , Lupus Eritematoso Sistémico/complicaciones , BiomarcadoresRESUMEN
OBJECTIVES: Diabetes frequently results in cognitive impairment, but it is less clear if brain health is adversely affected during the prediabetic stage. Our aim is to identify possible changes in brain volume as measured by magnetic resonance imaging (MRI) in a large elderly population stratified according to level of "dysglycemia." METHODS: This is a cross-sectional study of 2144 participants (median age 69 years, 60.9% female) who underwent 3-T brain MRI. Participants were divided into 4 dysglycemia groups based on HbA1c levels (%): normal glucose metabolism (NGM) (< 5.7%), prediabetes (5.7 to < 6.5%), undiagnosed diabetes (6.5% or higher), and known diabetes (defined by self-report). RESULTS: Of the 2144 participants, 982 had NGM, 845 prediabetes, 61 undiagnosed diabetes, and 256 known diabetes. After adjustment for age, sex, education, body weight, cognitive status, smoking, drinking, and disease history, total gray matter volume was significantly lower among participants with prediabetes (0.41% lower, standardized ß = - 0.0021 [95% CI - 0.0039, - 0.00039], p = 0.016), undiagnosed diabetes (1.4% lower, standardized ß = - 0.0069 [95% CI - 0.012, - 0.002], p = 0.005), and known diabetes (1.1% lower, standardized ß = - 0.0055 [95% CI - 0.0081, - 0.0029], p < 0.001) compared to the NGM group. After adjustment, total white matter volume and hippocampal volume did not differ significantly between the NGM group and either the prediabetes group or the diabetes group. CONCLUSION: Sustained hyperglycemia may have deleterious effects on gray matter integrity even prior to the onset of clinical diabetes. KEY POINTS: ⢠Sustained hyperglycemia has deleterious effects on gray matter integrity even prior to the onset of clinical diabetes.
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Encéfalo , Diabetes Mellitus Tipo 2 , Diabetes Mellitus , Hiperglucemia , Estado Prediabético , Anciano , Femenino , Humanos , Masculino , Glucemia/metabolismo , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Estudios Transversales , Diabetes Mellitus/epidemiología , Diabetes Mellitus Tipo 2/patología , Pueblos del Este de Asia , Hiperglucemia/complicaciones , Hiperglucemia/patología , Estado Prediabético/sangre , Estado Prediabético/complicaciones , Estado Prediabético/epidemiologíaRESUMEN
PURPOSE: Phase difference enhanced (PADRE) imaging can enhance myelin density and delineate the superior cerebellar peduncle (SCP). We aimed to determine if SCP atrophy was distinguishable on PADRE imaging and evaluate its diagnostic performance compared with previous MRI progressive supranuclear palsy (PSP) findings. METHODS: Two reviewers measured the SCP widths on PADRE in 20 PSP and 31 Parkinson's disease (PD) patients. The SCP and middle cerebellar peduncle (MCP) widths and the pons and midbrain areas were measured on 3D-T1WI, and the ratio of the area of the pons to the area of the midbrain, the MCP/SCP ratio, and the magnetic resonance parkinsonism index (MRPI) were calculated. We used the Steel-Dwass test to compare PSP, PD, and HS, and receiver operating characteristic curve (ROC) analyses to assess the sensitivity and specificity for diagnosing PSP from PD. A comparison of ROC curves was performed between the SCP on PADRE and these 3D-T1WI parameters. RESULTS: In radiologist 1, the SCP on PADRE in PSP (1.1 ± 0.3 mm) was significantly smaller than those in PD (2.4 ± 0.4 mm) (P < 0.001); the area under the curve (AUC) was 0.97. At a 1.75-mm cutoff value, the diagnostic sensitivity and specificity for differentiating PSP from PD were 93.5% and 100%, respectively. The AUC of the SCP on PADRE was significantly higher than the 3D-T1WI parameters (the SCP, MCP, pons area, MCP/SCP ratio, and MRPI). CONCLUSION: Assessing SCP with PADRE imaging may yield high diagnostic accuracy for discriminating PSP from PD.
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Enfermedad de Parkinson , Trastornos Parkinsonianos , Parálisis Supranuclear Progresiva , Humanos , Enfermedad de Parkinson/diagnóstico por imagen , Enfermedad de Parkinson/patología , Parálisis Supranuclear Progresiva/diagnóstico por imagen , Parálisis Supranuclear Progresiva/patología , Sensibilidad y Especificidad , Curva ROC , Imagen por Resonancia Magnética/métodos , Diagnóstico DiferencialRESUMEN
BACKGROUND: Synthetic magnetic resonance imaging (SyMRI) enables to reformat various images by adjusting the MR parameters. PURPOSE: To investigate whether customization of the repetition time (TR), echo time (TE), and inversion time (TI) in SyMRI could improve the visualization of subthalamic nucleus (STN). MATERIAL AND METHODS: We examined five healthy volunteers using both coronal SyMRI and quantitative susceptibility mapping (QSM), seven patients with Parkinson's disease (PD) using coronal SyMRI, and 15 patients with PD using coronal QSM. Two neuroradiologists reformatted SyMRI (optimized SyMRI) by adjusting TR, TE, and TI to achieve maximum tissue contrast between the STN and the adjacent brain parenchyma. The optimized MR parameters in the PD patients varied according to the individual. For regular SyMRI (T2-weighted imaging [T2WI] and STIR), optimized SyMRI, and QSM, qualitative visualization scores of the STN (STN score) were recorded. The contrast-to-noise ratio (CNR) of the STN was also measured. RESULTS: For the STN scores in both groups, the optimized SyMRI were significantly higher than the regular SyMRI (Pâ <â 0.05), and there were no significant differences between optimized SyMRI and QSM. For the CNR of differentiation of the STN from the substantia nigra, the optimized SyMRI was higher than the regular SyMRI (volunteer: T2WI P = 0.10 and STIR P = 0.26; PD patient: T2WI P = 0.43 and STIR P = 0.25), but the optimized SyMRI was lower than the QSM (volunteer: P = 0.26; PD patient: P = 0.03). CONCLUSIONS: On SyMRI, optimization of MR parameters (TR, TE, and TI) on an individual basis may be useful to increase the conspicuity of the STN.
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Estimulación Encefálica Profunda , Enfermedad de Parkinson , Núcleo Subtalámico , Humanos , Núcleo Subtalámico/diagnóstico por imagen , Núcleo Subtalámico/patología , Estimulación Encefálica Profunda/métodos , Imagen por Resonancia Magnética/métodos , Encéfalo/patología , Enfermedad de Parkinson/diagnóstico por imagenRESUMEN
Depressive state is a common complication of spinocerebellar ataxia type 3 (SCA3). To the best of our knowledge, cases of SCA3 presenting with cenesthopathy have not been described. Here, we present a case of a severe depressive state with cenesthopathy and delusion in a young Japanese man with SCA3. A 43-year-old Japanese man with SCA3 developed a severe depressive state with associated cenesthopathy and delusion. He was treated with escitalopram (10 mg/day) and olanzapine (2.5 mg/day). Computed tomography showed atrophy of the cerebellum, bilateral superior cerebellar peduncle, and tegmentum of the pons. Single-photon emission computed tomography demonstrated reduced blood flow in the cerebellum, vermis, and brainstem. After 8 weeks, his depressive state and delusion improved; however, his cenesthopathy persisted. We encountered a case of a severe depressive state with cenesthopathy and delusion in a young Japanese man with SCA3. This case supports previous studies that the cerebellum could have a role beyond motor functions.
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Enfermedad de Machado-Joseph , Masculino , Humanos , Adulto , Enfermedad de Machado-Joseph/complicaciones , Enfermedad de Machado-Joseph/diagnóstico por imagen , Enfermedad de Machado-Joseph/tratamiento farmacológico , Olanzapina/uso terapéutico , Deluciones/diagnóstico por imagen , Deluciones/tratamiento farmacológico , Deluciones/etiología , Japón , Cerebelo/diagnóstico por imagenRESUMEN
A 60-year-old woman with a 37-year history of rheumatoid arthritis (RA) had a sudden onset of headache. Head MRI showed acute multiple infarctions in the vertebrobasilar region, and MR angiography showed stenosis of the right vertebral artery (VA). 3D-CT angiography of the craniovertebral junction showed atlantoaxial subluxation and stenosis of the right VA just distal to the transverse foramen of C2, which was due to osteophytes and degenerative changes secondary to RA. Digital subtraction angiography clearly demonstrated occlusion of the right VA during rightward head rotation. Based on those findings, rotatory instability at C1-2 was considered as the primary cause of the vertebrobasilar infarctions, and Bow Hunter's syndrome was diagnosed. The patient underwent C1-5 posterior fixation, and brain infarction has not recurred.
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Artritis Reumatoide , Mucopolisacaridosis II , Insuficiencia Vertebrobasilar , Artritis Reumatoide/complicaciones , Artritis Reumatoide/diagnóstico por imagen , Femenino , Humanos , Infarto , Persona de Mediana Edad , Arteria Vertebral/diagnóstico por imagen , Insuficiencia Vertebrobasilar/diagnóstico por imagen , Insuficiencia Vertebrobasilar/etiologíaRESUMEN
BACKGROUND: In amyotrophic lateral sclerosis (ALS), motor neurons in the brainstem markedly deplete, whereas sensory neurons are less severely affected. PURPOSE: To determine whether facial nerve (FN) measurement on 3D fast imaging employing steady-state acquisition (FIESTA) is useful for ALS diagnosis. STUDY TYPE: Retrospective. SUBJECTS: Fifteen ALS patients and 16 controls. FIELD STRENGTH/SEQUENCE: 3T FIESTA MR. ASSESSMENT: The cross-sectional area of the FN and cochlear nerve (CN) were measured, and the FN/CN ratio (FCR) was assessed. For qualitative assessment, the FN cross-sectional area was compared with that of the CN and the following scores were assigned: score 1 (large), the FN is larger than the CN; score 2 (almost equal), the size difference between the FN and CN is within 10%; score 3 (small), the FN is smaller than the CN (10-50%); score 4 (significantly small), size of the FN is less than half the size of the CN. STATISTICAL TESTS: The differences in FCR between the ALS patients and the controls were tested using the Wilcoxon Mann-Whitney U-test. For the qualitative and quantitative assessments, we performed a receiver operating characteristic analysis for the diagnosis of ALS with an abnormal finding as score 3 or 4. RESULTS: The mean FCR was significantly smaller for ALS patients (0.71 ± 0.17) than for controls (0.95 ± 0.08) (P < 0.001) and the area under the curve was 0.93. When an FN score was 3 or 4, indicative of FN atrophy, the sensitivity and specificity values of FIESTA for discriminating ALS patients from controls were 93.3% (14/15) and 90.0% (18/20), respectively. DATA CONCLUSION: The FN atrophy revealed on FIESTA, which may reflect lower motor neuron impairment in ALS, allowed us to distinguish ALS patients from controls with a high degree of accuracy. LEVEL OF EVIDENCE: 3 Technical Efficacy: Stage 2 J. Magn. Reson. Imaging 2020;51:757-766.
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Esclerosis Amiotrófica Lateral , Nervio Facial , Esclerosis Amiotrófica Lateral/diagnóstico por imagen , Atrofia , Nervio Facial/diagnóstico por imagen , Humanos , Imagenología Tridimensional , Imagen por Resonancia Magnética , Estudios RetrospectivosRESUMEN
PURPOSE: The typical MRI findings in corticobasal degeneration (CBD), which have been described in previous reports, may be non-specific. We evaluated cerebral gyri (CG) using quantitative susceptibility mapping (QSM) images of patients with CBD, progressive supranuclear palsy (PSP), and Parkinson's disease (PD) to determine the possibility of discriminating them on an individual basis. METHODS: After reviewing the normal appearances on QSM on 16 healthy subjects, two radiologists assessed abnormal findings from 12 CBD, 14 PSP, and 30 PD patients. For conventional MRI, two radiologists independently reviewed typical CBD findings that have been previously reported. We also investigated three autopsy cases including one each of CBD, PSP, and PD to reveal the histopathological basis of MRI findings. RESULTS: CBD-specific findings included three layers; a higher susceptibility layer in superficial GM, a lower susceptibility layer, and a higher susceptibility layer in corticomedullary junction, with frequencies of 83% (10/12) in CBD, 21% (3/14) in PSP, and 0% (0/30) in PD patients. The typical CBD findings on conventional MRI were observed in only 42% (5/12) of CBD patients. Ferritin-positive microglia accumulated in the superficial gray matter (third cortical layer) and corticomedullary junction in CBD patients. CONCLUSIONS: The CG findings on QSM images may be more useful than those on conventional MRI for discriminating CBD from PD on an individual basis. Based on postmortem pathological data, cortical QSM hyperintensity might be an expression of ferritin-positive microglia.
Asunto(s)
Mapeo Encefálico/métodos , Corteza Cerebral/patología , Imagen por Resonancia Magnética/métodos , Enfermedad de Parkinson/patología , Parálisis Supranuclear Progresiva/patología , Adulto , Anciano , Anciano de 80 o más Años , Autopsia , Ganglios Basales/patología , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: Systemic lupus erythematosus (SLE) is related to vasculitis, which causes brain infarctions; however, the pathology of large cerebral vessels has not been fully established. PURPOSE: To demonstrate the prevalence of vessel wall lesions (VWLs) in SLE patients using 3D vessel wall imaging and to assess the relationship between VWLs and brain infarctions. STUDY TYPE: Retrospective. SUBJECTS: Sixty SLE patients and 50 healthy subjects (HS). FIELD STRENGTH/SEQUENCE: Each subject underwent 3T MRI, which included 3D FSE PDWI (CUBE). ASSESSMENT: For each of the 33 segments of the intracranial artery (internal carotid artery â¼ M3 segment of middle cerebral artery [MCA]), the VWLs were scored as either positive or negative, and the VWL score was calculated as the sum of the segments with VWLs. We also evaluated brain lesions on conventional MRI. STATISTICAL TESTS: We used logistic regression analyses to determine the clinical (serological test and cardiovascular risk factors) and imaging characteristics associated with infarctions in SLE patients. RESULTS: For the peripheral vessels such as MCA, VWLs were more common for SLE patients than for HS (43.3% versus 16.7% in M1 segment, 60.4% versus 16.7% in M2 segment, both P < 0.01). There were 21 infarctions in 13 patients (21.7%), and the median VWL score was larger in the patients with infarctions than in those without (13 versus 6, P < 0.01). Multivariate logistic regression analyses revealed a high VWL score ( ≥ 9) to be the only factor independently associated with the presence of infarctions (odds ratio: 10.1, 95% confidence interval: 1.01-101; P < 0.049). DATA CONCLUSION: We demonstrated a substantially high prevalence of VWLs among SLE patients, which were associated with brain infarctions. LEVEL OF EVIDENCE: 3 Technical Efficacy: Stage 2 J. Magn. Reson. Imaging 2018;47:1237-1246.