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Anticuerpos/análisis , Carcinoma de Células Escamosas/diagnóstico , Enfermedades Musculares/diagnóstico , Anciano de 80 o más Años , Anticuerpos/sangre , Enfermedades Autoinmunes/sangre , Enfermedades Autoinmunes/diagnóstico , Carcinoma de Células Escamosas/sangre , Femenino , Humanos , Hidroximetilglutaril-CoA Reductasas/análisis , Hidroximetilglutaril-CoA Reductasas/sangre , Enfermedades Musculares/sangreRESUMEN
We described the cases of two patients with dementia associated with motor neuron disease, the former with frontotemporal dementia (FTD) and the latter with Alzheimer's disease (AD), studied by the Pittsburgh compound B-positron emission tomography (PIB-PET). In the FTD patient, the PIB-PET revealed no amyloid accumulation in the cortex, whilst in the AD patient showed amyloid accumulation mainly in the frontal, parietal and lateral temporal lobes, besides the posterior cingulate gyrus and the precuneus. Thus, PIB-PET might facilitate the discrimination of different proteinopathies that cause neurodegenerative diseases, as dementia associated with ALS.
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Enfermedad de Alzheimer/diagnóstico por imagen , Compuestos de Anilina , Encéfalo/diagnóstico por imagen , Demencia Frontotemporal/diagnóstico por imagen , Tiazoles , Anciano , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de la Neurona Motora/diagnóstico por imagen , Tomografía de Emisión de Positrones/métodosRESUMEN
We report the case of a 42-year-old female with neurosarcoidosis who was hospitalized in year 2017 for gait disturbance. In 2011, she suddenly had vertigo that lasted for a few days. In 2013, she noticed left hemiplegia. A brain MRI revealed an acute infarction on the right side of the upper pons extending longitudinally from the ventral surface. In 2017, she again had left lower limb paralysis. A Brain MRI showed another infarction on the right side of the mid-pons. Hydrocephalus and brainstem atrophy were also noted. The patient was referred to our hospital. Upon neurological examination, she presented with down beat nystagmus, muscle weakness on the left side, and a broad-based spastic gait. CSF findings included an increased number of cells and protein levels with decreased glucose levels. A contrast-enhanced MRI revealed basilar meningitis causing hydrocephalus. A contrast CT scan revealed inguinal lymph node swelling, and scintigram found gallium accumulation. We diagnosed sarcoidosis via a lymph node biopsy. We speculate that chronic basilar meningitis obstructed the patient's branching penetrating arteries inducing infarction together with obstruction of the spinal fluid flow causing hydrocephalus and cerebral atrophy.
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Infartos del Tronco Encefálico/etiología , Tronco Encefálico/patología , Enfermedades del Sistema Nervioso Central/complicaciones , Hidrocefalia/etiología , Sarcoidosis/complicaciones , Adulto , Atrofia/etiología , Encéfalo/diagnóstico por imagen , Enfermedades del Sistema Nervioso Central/diagnóstico , Enfermedades del Sistema Nervioso Central/patología , Femenino , Humanos , Imagen por Resonancia Magnética , Recurrencia , Sarcoidosis/diagnóstico , Sarcoidosis/patologíaRESUMEN
BACKGROUND: Early-onset familial Alzheimer disease is caused by mutations in the amyloid precursor protein (APP), presenilin-1 (PSEN1), or presenilin-2 (PSEN2) genes. Phenotypic diversity has been reported to be associated with various mutations in PSEN1. Various mutations of PSEN1 have been reported in cases of early-onset Alzheimer disease with spastic paraparesis. OBJECTIVE: To describe a novel mutation in the PSEN1 gene associated with early-onset Alzheimer disease with spastic paraparesis. PATIENT AND METHODS: The patient was a 27-year-old man who developed early-onset dementia with spastic paraparesis. We examined sequences of the PSEN1, PSEN2, and APP genes from the patient and his family. To detect a possible mutation effect on the production of amyloid-beta peptide (Abeta), transfected HEK293 cells were examined for Abeta42 and Abeta40 production. RESULTS: We found a novel mutation (Leu85Pro) in PSEN1. This mutation influenced the production of Abeta, resulting in a 2-fold elevation of Abeta42 production and of the Abeta42/40 ratio. CONCLUSION: To our knowledge, this is the first report of very early-onset Alzheimer disease with spastic paraparesis and with the visual variant form of the disease, which is associated with visuospatial cognitive disorder. The Leu85Pro mutation in PSEN1 was pathogenic.
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Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/fisiopatología , Proteínas de la Membrana/genética , Paraparesia Espástica/etiología , Adulto , Edad de Inicio , Enfermedad de Alzheimer/complicaciones , Péptidos beta-Amiloides/análisis , Péptidos beta-Amiloides/genética , Análisis Mutacional de ADN , Humanos , Masculino , Mutación Puntual , Presenilina-1 , Trastornos de la Visión/etiologíaRESUMEN
To assess the accuracy of magnetoencephalography (MEG) as a tool for quantitative detection of neuronal activity, the dipole moment was estimated at N20m of somatosensory evoked fields (SEFs) produced by median nerve stimulation. Neurologically stable patients were examined twice within 2 weeks. Since the estimated moment values of the two examinations should be essentially the same, we assessed the margin of error for our measurement system. The results showed that a change of more than 5.2 nAm is statistically significant (p=0.05; n=91). The patients were classified as without or with functional asymmetries by measuring the conventional cerebral blood flow (CBF) with single photon emission CT (SPECT), and the dipole moment difference between hemispheres was measured. Hemispheric moment differences were statistically larger for the group with CBF laterality, indicating consistency between conventional CBF results and the moment measurements as a group. Moreover, MEG was able to detect more functional asymmetries than CBF study. The dipole moment provided a reliable quantitative index of cortical response to somatosensory stimulus, and the moment measurement thus holds promise as a clinical tool for direct quantification of cortical response.
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Encéfalo/fisiopatología , Dominancia Cerebral , Potenciales Evocados Somatosensoriales , Magnetoencefalografía , Adulto , Anciano , Encéfalo/diagnóstico por imagen , Circulación Cerebrovascular , Estimulación Eléctrica , Femenino , Humanos , Masculino , Nervio Mediano/fisiopatología , Persona de Mediana Edad , Tomografía Computarizada de Emisión de Fotón ÚnicoRESUMEN
OBJECT: Objective assessment of sensory function disorders is difficult. In the present study, the authors investigated the possibility of assessing cervical myelopathy-induced sensory disorders by using magnetoencephalography (MEG) to measure somatosensory evoked magnetic fields (SSEMFs). METHODS: In 12 patients with cervical myelopathy, SSEMFs were measured before and after surgery by using a 160-channel helmet-type MEG system to stimulate the median nerve, and the intensity and latency of N20m (first response occurring 20 msec after stimulation) were then determined. Additionally, the severity of the sensory disorder was assessed before and after surgery by obtaining sensory scores determined using the Neurosurgical Cervical Spine Scale. Furthermore, in 11 healthy individuals (control group), the intensity and latency of N20m were measured in the same fashion. Analysis of the results showed that the preoperative intensity of N20m in the 12 patients with cervical myelopathy was significantly lower than that demonstrated in the control patients (p < 0.005, Student t-test). In addition, of six patients in whom sensory scores improved postoperatively, there were significant increases in the intensity of N20m (p < 0.005, paired t-test). Furthermore, there was a significant correlation between sensory scores and dipole intensity (p < 0.001, Spearman correlation coefficient by rank test). CONCLUSIONS: Somatosensory evoked magnetic field measurements determined by MEG are useful in objectively and noninvasively assessing sensory disorders caused by cervical myelopathy.
Asunto(s)
Potenciales Evocados Somatosensoriales/fisiología , Magnetoencefalografía , Enfermedades de la Médula Espinal/diagnóstico , Adulto , Anciano , Estimulación Eléctrica , Campos Electromagnéticos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/fisiopatología , Valor Predictivo de las Pruebas , Tiempo de Reacción/fisiología , Valores de Referencia , Médula Espinal/fisiopatología , Médula Espinal/cirugía , Enfermedades de la Médula Espinal/fisiopatología , Enfermedades de la Médula Espinal/cirugía , Resultado del TratamientoRESUMEN
OBJECTIVE: To describe an unusual case of a male patient with anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis who presented with multiple white matter lesions. Brain biopsy of the patient was performed, and follow-up evaluation of the cerebrospinal fluid (CSF) NMDAR antibody titer was implemented. DESIGN: Case report. SETTING: University hospital. PATIENT: A 35-year-old man with anti-NMDAR encephalitis initially presented with fever and psychiatric symptoms. After an initial attack of anti-NMDAR encephalitis, 2 atypical relapses occurred, which presented with myelitis and multifocal white matter lesions; the lesions were open-ring-shaped and partially enhanced. INTERVENTION: Analysis of the brain biopsy specimen revealed the presence of demyelinated lesions with discrete borders. Subsequent intravenous methylprednisolone therapy resulted in improvement in the brain lesions. Prednisolone and cyclophosphamide were orally administered thereafter. Clinical progression of the disease paralleled observed changes in the CSF NMDAR antibody titer. CONCLUSION: The demyelinated lesions observed in this case were similar to lesions found in multiple sclerosis. On the basis of our finding that the clinical progression of the disease and the associated symptoms paralleled changes in the CSF NMDAR antibody titer, we speculate that the lesions formed as a result of anti-NMDAR encephalitis.
RESUMEN
PURPOSE: To characterize the epileptogenic condition of patients with mesial temporal lobe epilepsy, the interictal patterns of glucose metabolism, perfusion, and magnetic field in the temporal lobe were evaluated by using [18F]fluorodeoxyglucose-positron emission tomography, [99mTc]-ethylcysteinate dimer-single photon emission computed tomography, and magnetoencephalography (MEG). METHODS: Twenty-one patients with mesial temporal lobe epilepsy related to hippocampal sclerosis were studied. The ictal-onset area was located by continuous video-EEG monitoring. Quantitative analysis of glucose metabolism and perfusion in the temporal lobe was performed, and the cerebral magnetic field was evaluated to measure the equivalent current dipole (MEG-ECD). RESULTS: Although hypometabolism and hypoperfusion in the temporal lobe were lateralized with the ictal-onset area in 16 (76.2%) and in 11 (52.4%) respectively, they were localized in diverse ways without any coupling. MEG-ECD was distributed in diverse ways unrelated to the ictal-onset area: ipsilateral medial temporal origin in five (23.8%), ipsilateral lateral temporal origin in two (9.5%), ipsilateral mixed (medial and lateral) temporal origin in six (28.6%), bilateral temporal origin in four (19.0%), and contralateral temporal origin in two (9.5%). CONCLUSIONS: MEG-ECD was distributed in varied ways with the disorder and uncoupling of glucose metabolism and perfusion in the temporal lobe. These results may help resolve the clinical controversy over the possibility that the cortical irritative area generating the interictal epileptic discharge is distinct from the ictal-onset area, and also may have some functional implications in identifying different brain compartments in the generation of metabolic signals.