RESUMEN
A 63-year-old woman who presented for orofacial dystonia showed cortical ribboning, a typical MRI finding in sporadic Creutzfeldt-Jakob disease (sCJD). However, real-time quaking-induced conversion (RT-QuIC), the most sensitive method for an early diagnosis of sCJD, was negative. She developed sCJD six months later, at which time RT-QuIC became positive. The cerebral blood flow showed a decrease in the cerebral cortex (especially in the supramarginal gyrus) consistent with cortical ribboning, but an increase in the basal ganglia, probably involved in orofacial dystonia. Cortical ribboning on MRI might be a better biomarker than RT-QuIC in the prodromal phase of sCJD.
Asunto(s)
Síndrome de Creutzfeldt-Jakob , Distonía , Priones , Biomarcadores , Corteza Cerebral/diagnóstico por imagen , Síndrome de Creutzfeldt-Jakob/diagnóstico por imagen , Femenino , Humanos , Persona de Mediana EdadRESUMEN
Progressive supranuclear palsy (PSP) is a neurodegenerative tauopathy described as a syndrome of postural instability, supranuclear vertical gaze palsy, dysarthria, dystonic rigidity of the neck and trunk, dementia, and pseudobulbar palsy. The clinical diagnosis of PSP is often difficult because there are no established biomarkers, and diagnosis is currently based on clinical and imaging findings. Furthermore, the etiology and pathogenesis of PSP remain unknown. Dysregulation of microRNAs (miRNAs/miRs) has been reported to serve an important role in neurodegenerative diseases. However, the miRNA profiles of patients with PSP are rarely reported. The present study aimed to examine cerebrospinal fluid miRNAs, which are considered to be more sensitive indicators of changes in the brain, to elucidate the pathophysiology of PSP and to establish specific biomarkers for diagnosis. The present study used a microarray chip containing 2,632 miRNAs to examine cerebrospinal fluid miRNA expression levels in 11 patients with PSP aged 6882 years. A total of 8 age and sexmatched controls were also included. A total of 38 miRNAs were significantly upregulated and one miRNA was significantly downregulated in the cerebrospinal fluid of patients with PSP. The patients were divided into two groups based on disease stage (early onset and advanced), and changes in miRNA expression were examined. The miRNAs that were most significantly upregulated or downregulated in the early onset group were miR2043p, miR8733p and miR68405p. The target genes of these miRNAs were associated with molecules related to the ubiquitinproteasome system and autophagy pathway. Furthermore, these miRNAs were found to target genes that have been reported to have epigenetic changes following an epigenomewide association study of brain tissues of patients with PSP. This suggested that these miRNAs and genes may have some involvement in the pathogenesis of PSP. However, the sample size of the present study was small; therefore, a greater number of patients with PSP should be examined in future studies.
Asunto(s)
Biomarcadores/líquido cefalorraquídeo , MicroARNs/líquido cefalorraquídeo , Parálisis Supranuclear Progresiva/líquido cefalorraquídeo , Parálisis Supranuclear Progresiva/diagnóstico , Anciano , Anciano de 80 o más Años , Femenino , Perfilación de la Expresión Génica/métodos , Regulación de la Expresión Génica , Humanos , Masculino , MicroARNs/genética , Persona de Mediana Edad , Sensibilidad y Especificidad , Parálisis Supranuclear Progresiva/genética , SíndromeRESUMEN
The present study aimed to assess spinal tract formation in neurons originating from cervical (C7), brachial (C14), and thoracic (T4) regions, with the lumbar (LS2) region as a reference, in a chick embryo. For the assessment of the spinal tracts, we introduced a vector expressing human placental alkaline phosphatase into progenitor cells generated after neural tube closure and belonging to the above segments, using in ovo electroporation. The ascending axons took primarily similar paths: dorsal commissural, ventral commissural, and dorsal non-commissural paths, with some variance depending on their originating segments. Some populations of non-commissural neurons later extended their axons following a ventral path. The elongation rates of these axons are primarily constant and tended to increase over time; however, some variations depending on the originating segments were also observed. Some of the dorsally ascending axons entered into the developing cerebellum, and spinocerebellar neurons originating from T4 projected their axons into the cortex of the cerebellum differently from those from LS2. These results unveil an overall picture of early ascending spinal tract formation.
Asunto(s)
Fosfatasa Alcalina/metabolismo , Isoenzimas/metabolismo , Médula Espinal/fisiología , Columna Vertebral/embriología , Fosfatasa Alcalina/fisiología , Animales , Axones/fisiología , Encéfalo/embriología , Encéfalo/fisiología , Cerebelo/fisiología , Embrión de Pollo , Electroporación , Proteínas Ligadas a GPI/metabolismo , Proteínas Ligadas a GPI/fisiología , Isoenzimas/fisiología , Vías Nerviosas , Células-Madre Neurales/metabolismo , Células-Madre Neurales/fisiología , Neuronas/metabolismo , Neuronas/fisiología , Médula Espinal/embriología , Columna Vertebral/metabolismoRESUMEN
Eradication therapy of Helicobacter pylori may be safe if hemin has been intravenously administered in advance, even in patients with a history of recurrent acute porphyria attack.
RESUMEN
A 78-year-old man suspected of having α-synucleinopathies received a high score on a validated questionnaire for rapid eye movement (REM) sleep behavior disorder (RBD). Although he did in fact have unpleasant dreams and vigorous behaviors, polysomnography (PSG) found only obstructive sleep apnea-hypopnea (OSAH). The RBD-like symptoms corresponded with arousal responses, namely augmented inspiratory effort and leg movements, to his frequent apnea-hypopnea events during REM sleep. Thus, severe OSAH might cause RBD-like symptoms. PSG can discriminate real RBD from RBD-like symptoms associated with severe OSAH and therefore may be essential for determining an appropriate course of treatment in certain patients.
Asunto(s)
Trastorno de la Conducta del Sueño REM , Apnea Obstructiva del Sueño , Anciano , Nivel de Alerta , Humanos , Masculino , Polisomnografía , Trastorno de la Conducta del Sueño REM/diagnóstico , Apnea Obstructiva del Sueño/diagnóstico , Sueño REMAsunto(s)
Células del Asta Anterior/patología , Hemosiderosis/patología , Enfermedades de la Médula Espinal/patología , Esclerosis Amiotrófica Lateral , Neuritis del Plexo Braquial/etiología , Diagnóstico Diferencial , Hemosiderosis/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Enfermedades de la Médula Espinal/complicaciones , SíndromeRESUMEN
Previously we studied the possible neuroprotective effects of ischemia-resistant exercise in a gerbil model of transient whole-brain ischemia and evaluated the histology, expression of specific proteins, and brain function under different conditions. The present study investigated the neuroprotective effects of light exercise, without lactate elevation, in a gerbil model of ischemia/reperfusion injury. Transient whole-brain ischemia was induced by occlusion of the bilateral common carotid arteries for 5 min. A group of animals was subjected to treadmill exercise before ischemia induction. Hippocampal neuronal damage and miRNA expression, as well as behavioral deficits and plasma lactate levels, were evaluated. Light exercise suppressed hippocampal neuron loss and preserved short-term memory. Moreover, 14 miRNAs (mmu-miR-211-3p, -327, -451b, -711, -3070-3p, -3070-2-3p, -3097-5p, -3620-5p, -6240, -6916-5p, -6944-5p, 7083-5p, -7085-5p, and -7674-5p) were upregulated and 6 miRNAs (mmu-miR-148b-3p, -152-3p, -181c-5p, -299b-5p, -455-3p, and -664-3p) were downregulated due to ischemia. However, the expression of these miRNAs remained unchanged when animals performed light exercise before the ischemic event. Differentially expressed miRNAs regulate multiple biological processes such as inflammation, metabolism, and cell death. These findings suggest that light exercise reduces neuronal death and behavioral deficits after transient ischemia by regulating hippocampal miRNAs.
Asunto(s)
Hipocampo/metabolismo , Ácido Láctico/metabolismo , MicroARNs/metabolismo , Neuroprotección/fisiología , Condicionamiento Físico Animal/fisiología , Animales , Isquemia Encefálica/genética , Isquemia Encefálica/metabolismo , Regulación de la Expresión Génica , Gerbillinae , Masculino , Memoria a Corto Plazo/fisiología , MicroARNs/genética , Neuronas/metabolismo , Daño por Reperfusión/genética , Daño por Reperfusión/metabolismo , Daño por Reperfusión/prevención & controlRESUMEN
The coexistence of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis and anti-myelin oligodendrocyte glycoprotein antibody (MOG-Ab)-associated diseases has been reported. We report the case of a 36-year-old woman who presented with repeated typical anti-NMDAR encephalitis coexisting with unusual symptoms not consistent with anti-NMDAR encephalitis. Apart from the anti-NMDAR encephalitis, her first episode was characterized by balance disability with bilateral medial frontal cortical lesions, suggesting the involvement of the cortico-reticular projections and the basal ganglia-brainstem projections. The second episode presented with Broca's aphasia caused by involvement of the Broca's area and lower part of the precentral gyrus. The detection of MOG-Ab in both episodes suggested the coexistence of MOG-Ab-associated diseases. Thus, an evaluation of MOG-Ab should be considered when anti-NMDAR encephalitis presenting with atypical symptoms is encountered.
Asunto(s)
Encefalitis Antirreceptor N-Metil-D-Aspartato/complicaciones , Enfermedades Autoinmunes/complicaciones , Encéfalo/diagnóstico por imagen , Glicoproteína Mielina-Oligodendrócito/inmunología , Adulto , Encefalitis Antirreceptor N-Metil-D-Aspartato/diagnóstico por imagen , Encefalitis Antirreceptor N-Metil-D-Aspartato/inmunología , Autoanticuerpos/inmunología , Enfermedades Autoinmunes/diagnóstico por imagen , Enfermedades Autoinmunes/inmunología , Femenino , Humanos , Imagen por Resonancia MagnéticaRESUMEN
A 72-year-old woman developed excessive somnolence as one of the symptoms of diffuse large B-cell lymphoma in the central nervous system (CNS). Although somnolence might be caused by reduced orexin secretion associated with hypothalamic lesions, neither brain MRI nor 18F-fluorodeoxyglucose positron emission tomography identified hypothalamic lesions. However, the decreased cerebrospinal fluid (CSF) orexin levels recovered to near normal values with improvement of somnolence after chemotherapy. The alteration of CSF orexin levels suggested the involvement of potential hypothalamic lesions. Therefore, measurements of CSF orexin levels may be useful for understanding the pathological background of somnolence in CNS lymphoma without hypothalamic lesions.
Asunto(s)
Neoplasias del Sistema Nervioso Central/complicaciones , Trastornos de Somnolencia Excesiva/etiología , Linfoma de Células B Grandes Difuso/complicaciones , Orexinas/líquido cefalorraquídeo , Anciano , Neoplasias del Sistema Nervioso Central/líquido cefalorraquídeo , Neoplasias del Sistema Nervioso Central/patología , Femenino , Humanos , Linfoma de Células B Grandes Difuso/líquido cefalorraquídeo , Linfoma de Células B Grandes Difuso/patologíaRESUMEN
The serum diagnosis of anti-myelin oligodendrocyte glycoprotein antibody (MOG-Ab) associated diseases can be confirmed by the presence of the MOG-Ab, yet its levels in cerebrospinal fluid (CSF) are of unknown significance. We report the case of a 59-year-old woman with a history of 12 recurrent central nervous system lesions in the optic nerve, cerebrum, and spinal cord. The woman's condition improved by each steroid therapy. She tested seronegative for MOG-Ab, yet CSF-positive, leading to a diagnosis of MOG-Ab-associated encephalomyelitis. Our experience suggests measuring MOG-Ab in CSF and serum to prevent the underdiagnosis of MOG-Ab-associated diseases.
Asunto(s)
Autoanticuerpos/líquido cefalorraquídeo , Encefalomielitis/líquido cefalorraquídeo , Encefalomielitis/inmunología , Glicoproteína Mielina-Oligodendrócito/inmunología , Autoanticuerpos/sangre , Biomarcadores/sangre , Biomarcadores/líquido cefalorraquídeo , Diagnóstico Diferencial , Encefalomielitis/diagnóstico por imagen , Encefalomielitis/tratamiento farmacológico , Femenino , Humanos , Persona de Mediana Edad , Esteroides/uso terapéuticoRESUMEN
Multiple system atrophy (MSA) is a sporadic neurodegenerative disease that is pathologically characterized by αsynuclein positive glial cytoplasmic inclusions in oligodendrocytes. The clinical diagnosis of MSA is often challenging as there are no established biomarkers and diagnoses are now based on clinical findings alone. At present, the etiology and pathogenesis of MSA are unclear. It has been reported that dysregulation of microRNA (miRNA/miR) serves an important role in neurodegenerative disorders including Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis. The miRNA profile of patients with MSA remains to be established. The present study investigated the serum miRNA expression level of 10 patients with MSA, using microarray chips including 668 miRNAs. It was identified that 50 miRNAs were significantly upregulated and 17 miRNAs were significantly downregulated in the serum of the patients with MSA. The most upregulated miRNA was miR16, which may induce the accumulation of αsynuclein. The target genes of some miRNAs upregulated in MSA (including miR17, 20a, 24, 25, 30d and 451) were associated with autophagyassociated molecules. The present study concluded that the expression pattern of miRNAs may be a clinical biomarker for MSA and targeting these miRNAs may provide a novel treatment for MSA.
Asunto(s)
MicroARN Circulante , MicroARNs/genética , Atrofia de Múltiples Sistemas/sangre , Atrofia de Múltiples Sistemas/genética , Anciano , Biomarcadores , Estudios de Casos y Controles , Análisis por Conglomerados , Biología Computacional/métodos , Femenino , Perfilación de la Expresión Génica , Regulación de la Expresión Génica , Humanos , Masculino , Persona de Mediana EdadRESUMEN
A 20-year-old Japanese woman had an attack of acute intermittent porphyria (AIP). Magnetic resonance imaging (MRI) revealed symmetrical lesions in the cerebrum and cerebellar hemisphere, corresponding to posterior reversible encephalopathy syndrome (PRES). Our administration of heme arginate gradually improved the clinical condition associated with AIP and the level of metabolite of nitric oxide (NO), which is a vascular dilator. Repeated MRI and magnetic resonance angiography revealed exacerbated PRES, part of which showed a small infarction, accompanied by progressive vasoconstriction. These findings suggest that the recovery of NO by heme replacement alone is insufficient for preventing brain damage during an AIP attack.
Asunto(s)
Porfiria Intermitente Aguda/complicaciones , Síndrome de Leucoencefalopatía Posterior/complicaciones , Arginina/uso terapéutico , Femenino , Hemo/uso terapéutico , Humanos , Angiografía por Resonancia Magnética , Imagen por Resonancia Magnética , Síndrome de Leucoencefalopatía Posterior/diagnóstico por imagen , Síndrome de Leucoencefalopatía Posterior/tratamiento farmacológico , Adulto JovenRESUMEN
Arachnoid cyst (AC) is a neurological complication of autosomal dominant polycystic kidney disease (ADPKD). Although an AC can increase the risk of a subdural hematoma, the clinical presentation of bleeding into an AC associated with ADPKD is not well known. We herein report the case of a 59-year-old woman in whom the initiation of hemodialysis for renal failure led to AC bleeding. A change of anticoagulant from heparin to nafamostat mesilate allowed dialysis to continue without rebleeding. These findings suggest that hemodialysis in patients with an AC associated with ADPKD may increase the risk of bleeding. Nafamostat mesilate may be useful in such cases.
Asunto(s)
Quistes Aracnoideos/complicaciones , Hematoma Subdural Crónico/etiología , Riñón Poliquístico Autosómico Dominante/complicaciones , Diálisis Renal/efectos adversos , Quistes Aracnoideos/patología , Femenino , Hematoma Subdural Crónico/patología , Humanos , Persona de Mediana EdadRESUMEN
Although the sensitive detection of putaminal iron deposition by T2*-weighted imaging (T2*-WI) is of diagnostic value for multiple system atrophy (MSA), the diagnostic significance of the pontine hot-cross bun (HCB) sign with increased ferritin-bound iron in the background remains unknown. We retrospectively evaluated the cases of 33 patients with cerebellar-form MSA (MSA-C) and 21 with MSA of the parkinsonian form (MSA-P) who underwent an MRI study with a 1.5-T system. Visualization of the HCB sign, posterior putaminal hypointensity and putaminal hyperintense rim on T2*-WI was assessed by two neurologists independently using an established visual grade, and were compared with those on T2-weighted imaging (T2-WI). The visual grade of pontine and putaminal signal changes was separately assessed for probable MSA (advanced stage) and possible MSA (early stage). T2*-WI demonstrated significantly higher grades of HCB sign than T2-WI (probable MSA-C, n = 27, p < 0.001; possible MSA-C, n = 6, p < 0.05; probable MSA-P, n = 13, p < 0.01). The visual grade of the HCB sign on T2*-WI in the possible MSA-C patients was comparable to that in the probable MSA-C patients. Although the HCB sign in MSA-P was of lower visual grade than in MSA-C even on T2*-WI, some patients showed evolution of the HCB sign preceding the appearance of the putaminal changes. These findings suggest that T2*-WI is of extreme value for detecting the HCB sign, which is often cited as a hallmark of MSA. The appearance of the HCB sign on T2*-WI might not only support but also improve the diagnosis of MSA.
Asunto(s)
Esclerosis Amiotrófica Lateral/diagnóstico , Imagen por Resonancia Magnética/métodos , Puente/patología , Putamen/patología , Anciano , Anciano de 80 o más Años , Esclerosis Amiotrófica Lateral/fisiopatología , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
We report the case of a 46-year-old Japanese woman with neuromyelitis optica spectrum disorder presenting with repeated hypersomnia accompanied by decreased CSF orexin level. First episode associated with hypothalamic-pituitary dysfunction showed bilateral hypothalamic lesions that can cause secondary damage to the orexin neurons. The second episode associated with impaired memory showed a left temporal lesion involving the amygdala. The mechanism remains unknown, but the reduced blood flow in the hypothalamus ipsilateral to the amygdala lesion suggested trans-synaptic hypothalamic dysfunction secondary to the impaired amygdala. A temporal lesion involving the amygdala and hypothalamus could be responsible for hypersomnia due to neuromyelitis optica spectrum disorder.
Asunto(s)
Amígdala del Cerebelo/patología , Trastornos de Somnolencia Excesiva/etiología , Hipotálamo/patología , Neuromielitis Óptica/patología , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Neuromielitis Óptica/líquido cefalorraquídeo , Neuromielitis Óptica/complicaciones , Orexinas/líquido cefalorraquídeoRESUMEN
Utilizing the high temporal resolution of event-related potentials (ERPs), we examined the effects of temporal reliability of sounds on visual detection. Significantly faster reaction times to visual target stimuli were observed when reliable temporal information was provided by a task-irrelevant auditory stimulus. Three main ERP components related to the effects of auditory temporal reliability were found: the first at 180-240 ms over a wide central area, the second at 300-400 ms over an anterior area, and the third at 300-380 ms over bilateral temporal areas. Our results support the hypothesis that temporal reliability affects visual detection and indicate that auditory facilitation of visual detection is partly due to spread of attention and thus results from implicit temporal linking of auditory and visual information at a relatively late processing stage.