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1.
No Shinkei Geka ; 48(12): 1139-1145, 2020 Dec.
Artigo em Japonês | MEDLINE | ID: mdl-33353876

RESUMO

The posterior inferior cerebellar artery(PICA)communicating artery is a fine tortuous artery that interconnects the bilateral vermian branches of the distal PICAs. Aneurysms of this anastomotic vessel have been reported in only seven cases(including ours)in the available literature. The PICA communicating artery supplied collateral blood flow to the contralateral vermian territory in all seven cases. A 51-year-old man presented with a rare PICA communicating artery aneurysm(which manifested as a hematoma in the fourth ventricle)and mild subarachnoid hemorrhage at the cerebellomedullary fissure. Angiography revealed a hypoplastic right PICA and a PICA communicating artery from the left PICA that supplied the right vermian territory; the ruptured aneurysm originated from this vessel. Aneurysm trapping is associated with the risk of cerebral infarction of the right vermian territory. We concluded that the distal part of the telovelotonsillar segment could be sacrificed because the right anterior inferior cerebellar artery and the superior cerebellar artery would supply collateral blood flow; therefore, we attempted trapping in this case. A bilateral midline suboccipital approach was used, and we detected a reddish fusiform aneurysm at the top of a hairpin curve of the PICA communicating artery in the uvula of the cerebellar vermis. The aneurysm was trapped and removed without complications. Histopathological evaluation confirmed findings of a true aneurysm. Congenital vulnerability of the arterial wall and hemodynamic stress are considered contributors to PICA communicating artery aneurysms. Preservation of the affected vessel is difficult in patients in whom aneurysmal clipping is challenging. Other vessels tend to establish collateral blood flow to the contralateral vermian territory in such cases. Trapping is a simple and effective therapeutic strategy for these aneurysms.


Assuntos
Aneurisma Roto , Aneurisma Intracraniano , Hemorragia Subaracnóidea , Aneurisma Roto/diagnóstico por imagem , Aneurisma Roto/cirurgia , Cerebelo/diagnóstico por imagem , Cerebelo/cirurgia , Angiografia Cerebral , Humanos , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/cirurgia , Masculino , Pessoa de Meia-Idade , Artéria Vertebral
2.
Zhonghua Nan Ke Xue ; 26(2): 118-122, 2020 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-33346413

RESUMO

Objective: To study the correlation between the brain regional homogeneity (ReHo) features and the clinical characteristics of the patients with psychogenic erectile dysfunction (pED). METHODS: Using IIEF-5 and the Self-Esteem and Relationship (SEAR) questionnaire, we evaluated the erectile function and psychosocial status of 32 pED patients and 28 healthy male subjects. Then, we compared the regional brain activity between the patients and healthy controls by resting-state functional magnetic resonance imaging (RS-fMRI) and the ReHo method, analyzed the correlation of the ReHo value of the altered brain regions with the results of IIEF-5 and SEAR questionnaire investigation, and explored the relationship between the ReHo features and the symptoms of the pED patients. RESULTS: Compared with the healthy male subjects, the pED patients obtained significantly lower IIEF-5 scores (22.21 ± 0.98 vs 13.97 ± 3.60, P < 0.01) and SEAR scores (61.92 ± 3.73 vs 37.58 ± 7.96, P < 0.01), a higher ReHo value of the left lateral cerebellum, and a lower ReHo value of the right precentral gyrus. The ReHo value of the left lateral cerebellum was correlated negatively with the IIEF-5 scores (r= -0.51, P < 0.01) and SEAR scores (r = -0.54, P < 0.01), while that of the right precentral gyrus positively with the IIEF-5 scores (r = 0.57, P < 0.01) and SEAR scores (r = 0.66, P < 0.01). CONCLUSIONS: Patients with pED had lateral cerebellum-mediated abnormal sensory integration and precentral gyrus-related dysfunction of motor imagery and motor execution.


Assuntos
Encéfalo/diagnóstico por imagem , Disfunção Erétil/psicologia , Estudos de Casos e Controles , Cerebelo/diagnóstico por imagem , Lobo Frontal/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Masculino
3.
BMJ Case Rep ; 13(12)2020 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-33334756

RESUMO

Acquired cerebellar ataxia is a rare, in many cases immune-modulated and paraneoplastic illness. Acute and slowly progredient processes are possible. An early treatment is important for a good clinical outcome. Here we present the case of female patient in her 60s with an antirecoverin associated cerebellitis without retinopathia and neoplasia. After an immunosuppressive therapy with steroids and rituximab the symptoms improved, and the progression could be stopped.


Assuntos
Autoanticorpos/sangue , Ataxia Cerebelar/diagnóstico , Marcha Atáxica/diagnóstico , Imunossupressores/uso terapêutico , Recoverina/imunologia , Idade de Início , Autoanticorpos/imunologia , Ataxia Cerebelar/sangue , Ataxia Cerebelar/tratamento farmacológico , Ataxia Cerebelar/imunologia , Cerebelo/diagnóstico por imagem , Cerebelo/imunologia , Feminino , Marcha Atáxica/sangue , Marcha Atáxica/tratamento farmacológico , Marcha Atáxica/imunologia , Glucocorticoides/uso terapêutico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Rituximab/uso terapêutico
4.
BMJ Case Rep ; 13(10)2020 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-33060143

RESUMO

Early case series suggest that about one-third of patients with COVID-19 present with neurological manifestations, including cerebrovascular disease, reported in 2%-6% of hospitalised patients. These are generally older patients with severe infection and comorbidities. Here we discuss the case of a previously fit and well 39-year-old man who presented with fever and respiratory symptoms, evolving in pneumonia with hypoxia but only requiring continuous positive airway pressure. After resolution of the respiratory disease, the patient developed focal neurology and was found to have bilateral occipital, thalamic and cerebellar infarcts. A diagnosis of COVID-19 central nervous system vasculopathy was made. He developed a florid neuropsychiatric syndrome, including paranoia, irritability, aggression and disinhibition, requiring treatment with antipsychotics and transfer to neurorehabilitation. Neuropsychometry revealed a wide range of cognitive deficits. The rapid evolution of the illness was matched by fast resolution of the neuropsychiatric picture with mild residual cognitive impairment.


Assuntos
Sintomas Comportamentais , Infarto Encefálico , Tronco Encefálico , Doenças Cerebelares , Cerebelo , Disfunção Cognitiva , Infecções por Coronavirus , Pandemias , Pneumonia Viral , Adulto , Sintomas Comportamentais/diagnóstico , Sintomas Comportamentais/fisiopatologia , Sintomas Comportamentais/reabilitação , Betacoronavirus/isolamento & purificação , Infarto Encefálico/diagnóstico , Infarto Encefálico/fisiopatologia , Infarto Encefálico/psicologia , Infarto Encefálico/reabilitação , Tronco Encefálico/irrigação sanguínea , Tronco Encefálico/diagnóstico por imagem , Doenças Cerebelares/fisiopatologia , Doenças Cerebelares/psicologia , Doenças Cerebelares/reabilitação , Doenças Cerebelares/virologia , Cerebelo/irrigação sanguínea , Cerebelo/diagnóstico por imagem , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/fisiopatologia , Disfunção Cognitiva/reabilitação , Disfunção Cognitiva/virologia , Infecções por Coronavirus/fisiopatologia , Infecções por Coronavirus/psicologia , Infecções por Coronavirus/terapia , Humanos , Masculino , Exame Neurológico/métodos , Testes Neuropsicológicos , Pneumonia Viral/fisiopatologia , Pneumonia Viral/psicologia , Pneumonia Viral/terapia , Pneumonia Viral/virologia , Reabilitação Psiquiátrica/métodos , Resultado do Tratamento
5.
Nat Commun ; 11(1): 5207, 2020 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-33060630

RESUMO

Fear conditioning is a form of associative learning that is known to involve different brain areas, notably the amygdala, the prefrontal cortex and the periaqueductal grey (PAG). Here, we describe the functional role of pathways that link the cerebellum with the fear network. We found that the cerebellar fastigial nucleus (FN) sends glutamatergic projections to vlPAG that synapse onto glutamatergic and GABAergic vlPAG neurons. Chemogenetic and optogenetic manipulations revealed that the FN-vlPAG pathway controls bi-directionally the strength of the fear memories, indicating an important role in the association of the conditioned and unconditioned stimuli, a function consistent with vlPAG encoding of fear prediction error. Moreover, FN-vlPAG projections also modulate extinction learning. We also found a FN-parafascicular thalamus pathway, which may relay cerebellar influence to the amygdala and modulates anxiety behaviors. Overall, our results reveal multiple contributions of the cerebellum to the emotional system.


Assuntos
Sistema Nervoso Central/fisiologia , Medo/fisiologia , Memória/fisiologia , Vias Neurais/fisiologia , Substância Cinzenta Periaquedutal/fisiologia , Tonsila do Cerebelo/fisiologia , Animais , Sistema Nervoso Central/patologia , Cerebelo/diagnóstico por imagem , Cerebelo/fisiologia , Condicionamento Clássico/fisiologia , Condicionamento Operante/fisiologia , Aprendizagem , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Neurônios/metabolismo , Optogenética
6.
Am J Case Rep ; 21: e926034, 2020 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-32813683

RESUMO

BACKGROUND Tuberculosis (TB) is a great mimic of central nervous system (CNS) tumors. This mimicry may pose a challenge, as the management of both diseases is quite different. Furthermore, the temporal association of initiating treatment affects prognosis. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mainly infects the pulmonary system. However, in a patient with concomitant pulmonary tuberculosis, it can be a diagnostic challenge. CASE REPORT A 28-year-old man of Indian origin presented with headache and vomiting. He had a brain mass on imaging suggestive of a glioma. He also had lung infiltrates and was diagnosed with a co-infection by SARS-CoV-2, by a reverse-transcription polymerase chain reaction (RT-PCR) using the GeneXpert system. The mass was excised and was found to be a tuberculoma, diagnosed by Xpert MTB. He received first-line anti-TB and treatment for COVID-19 pneumonia based on local guidelines. CONCLUSIONS This report highlights that COVID-19 can co-exist with other infectious diseases, such as TB. A high degree of clinical suspicion is required to detect TB with atypical presentation. A co-infection of pulmonary and CNS TB with COVID-19 can present a diagnostic challenge, and appropriate patient management relies on an accurate and rapid diagnosis. Surgery may be necessary if there are compressive signs and symptoms secondary to CNS TB. A diagnosis of COVID-19 should not delay urgent surgeries. Further studies are needed to understand the effects of COVID-19 on the clinical course of TB.


Assuntos
Betacoronavirus , Doenças Cerebelares/epidemiologia , Cerebelo/diagnóstico por imagem , Coinfecção/epidemiologia , Infecções por Coronavirus/epidemiologia , Pulmão/diagnóstico por imagem , Pneumonia Viral/epidemiologia , Tuberculose Pulmonar/epidemiologia , Adulto , Doenças Cerebelares/diagnóstico , Coinfecção/diagnóstico , Comorbidade , Infecções por Coronavirus/diagnóstico , Humanos , Imagem por Ressonância Magnética , Masculino , Pandemias , Pneumonia Viral/diagnóstico , Radiografia Torácica , Tuberculose Pulmonar/diagnóstico
7.
Radiología (Madr., Ed. impr.) ; 62(4): 298-305, jul.-ago. 2020. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-194247

RESUMO

OBJETIVOS: Describir los patrones normales de activación en el cerebelo de funciones específicas cerebrales (motor, lenguaje, memoria) y su relación topográfica en la corteza cerebelosa utilizando resonancia magnética funcional. MATERIALES Y MÉTODOS: Se evaluaron 25 sujetos sanos, 8 mujeres y 17 hombres de entre 16 y 64 años, 23 diestros y 2 zurdos, mediante resonancia magnética funcional basada en tareas de lenguaje, memoria, motor y visual, en equipo de resonancia de 1.5 Teslas. RESULTADOS: Se caracterizó la actividad funcional en el cerebelo asociada a los componentes motores, de lenguaje y memoria, describiendo la relación con las regiones topográficas, así como su relación funcional con áreas corticales cerebrales. CONCLUSIONES: El conocimiento sobre los patrones de normalidad de las características morfológicas y del comportamiento funcional en el cerebelo, así como su relación con el cerebro, es importante para el radiólogo y médico clínico en la evaluación del cerebelo y sus posibles condiciones patológicas


OBJECTIVES: To describe the normal patterns of cerebellar activation in specific cerebral functions (motor, language, memory) and their topographical correlations in the cerebellar cortex on functional magnetic resonance imaging. MATERIALS AND METHODS: We evaluated 25 healthy subjects (8 women and 17 men; 23 right-handed and 2 left-handed; age range, 16-64 years), who did language, memory, and motor tasks while undergoing 1.5T functional magnetic resonance imaging. RESULTS: We assessed functional activity of the cerebellum associated with motor, language, and memory components, describing their relations with topographical regions of the cerebellum and their functional relations with areas in the cerebral cortex. CONCLUSIONS: Knowledge of the normal patterns of morphological characteristics and functional behavior in the cerebellum as well as their relations with the brain is important for radiologists and clinicians evaluating the cerebellum and possible pathological conditions that affect it


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Cerebelo/diagnóstico por imagem , Imagem por Ressonância Magnética , Fala/fisiologia , Memória/fisiologia , Neuroimagem Funcional , Lateralidade Funcional , Cerebelo/lesões
9.
Proc Natl Acad Sci U S A ; 117(32): 19538-19543, 2020 08 11.
Artigo em Inglês | MEDLINE | ID: mdl-32723827

RESUMO

The surface of the human cerebellar cortex is much more tightly folded than the cerebral cortex. It was computationally reconstructed for the first time to the level of all individual folia from multicontrast high-resolution postmortem MRI scans. Its total shrinkage-corrected surface area (1,590 cm2) was larger than expected or previously reported, equal to 78% of the total surface area of the human neocortex. The unfolded and flattened surface comprised a narrow strip 10 cm wide but almost 1 m long. By applying the same methods to the neocortex and cerebellum of the macaque monkey, we found that its cerebellum was relatively much smaller, approximately 33% of the total surface area of its neocortex. This suggests a prominent role for the cerebellum in the evolution of distinctively human behaviors and cognition.


Assuntos
Cerebelo/anatomia & histologia , Neocórtex/anatomia & histologia , Animais , Córtex Cerebelar/anatomia & histologia , Córtex Cerebelar/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Humanos , Processamento de Imagem Assistida por Computador , Macaca , Imagem por Ressonância Magnética , Neocórtex/diagnóstico por imagem
10.
Rinsho Shinkeigaku ; 60(8): 520-526, 2020 Aug 07.
Artigo em Japonês | MEDLINE | ID: mdl-32641633

RESUMO

A 46 year-old man with schizophrenia had taken several anti-psychotic drugs since 25 years of age. From ~35 years of age, he noticed occasional neck torsion to the left, and later an ataxic gait; both symptoms gradually worsened. On admission, the patient was taking olanzapine (5 mg/day) and biperiden hydrochloride (1 mg/day) because his schizophrenia was well controlled. His parents were not consanguineous, and there was no family history of neuropsychiatric diseases. On neurological examination, he showed mild cognitive impairment, saccadic eye pursuit with horizontal gaze nystagmus, mild dysarthria, dystonic posture and movement of the neck, incoordination of both hands, and an ataxic gait. Deep tendon reflexes were normal except for the patellar tendon reflex, which was exaggerated bilaterally. Pathological reflexes were negative and there was no sign of rigidity, sensory disturbance or autonomic dysfunction. Ophthalmological examinations detected thinning of the outer macula lutea in both eyes, indicative of macular dystrophy. After admission, all anti-psychotic drugs were ceased, but his dystonia was unchanged. Levodopa and trihexyphenidyl hydrochloride were not effective. General blood, urine and cerebrospinal fluid examinations showed no abnormalities. Brain MRI showed cerebellar atrophy and bilateral symmetrical thalamic lesions without brainstem atrophy or abnormal signals in the basal ganglia. I123-IMP SPECT also revealed a decreased blood flow in the cerebellum. Genetic screening, including whole exome sequencing conducted by the Initiative on Rare and Undiagnosed Disease identified no possible disease-causing variants. The patient's dystonia worsened and choreic movements manifested on his right hand and foot. We suspected dystonia with marked cerebellar atrophy (DYTCA), but could not exclude drug-induced dystonia. Macular dystrophy and bilateral thalamic lesions on brain MRI have not been previously described in DYTCA. Whether these features might be primarily associated with dystonia or cerebellar ataxia now remains to be determined.


Assuntos
Antipsicóticos/efeitos adversos , Ataxia Cerebelar/etiologia , Cerebelo/patologia , Distonia Muscular Deformante/etiologia , Distonia/etiologia , Esquizofrenia/complicações , Esquizofrenia/tratamento farmacológico , Atrofia/diagnóstico por imagem , Atrofia/etiologia , Biperideno/efeitos adversos , Ataxia Cerebelar/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Distonia/diagnóstico por imagem , Distonia Muscular Deformante/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Pescoço , Olanzapina/efeitos adversos
11.
Neuroimage ; 220: 117114, 2020 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-32615254

RESUMO

An ALE meta-analysis focused on the serial reaction time task published in NeuroImage (Janacsek et al., 2019) demonstrated consistent activation of the basal ganglia across neuroimaging studies featuring sequence â€‹> â€‹random block contrasts and no consistent cerebellar activation. To enable valid conclusions regarding the role of the cerebellum in this context, some of the included studies should be excluded (e.g., because the cerebellum was explicitly not scanned). After omitting 6 of 16 studies/subject groups, 70% of the remaining studies did report cerebellar activation. While an ALE analysis of the remaining contrasts confirmed the original results, it may lack the power to detect cerebellar effects. We argue the conclusion that the cerebellum is not involved in sequence-specific learning should be treated with caution.


Assuntos
Cerebelo , Aprendizagem , Cerebelo/diagnóstico por imagem , Cognição , Humanos , Neuroanatomia , Tempo de Reação
12.
BMC Neurol ; 20(1): 230, 2020 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-32503453

RESUMO

BACKGROUND: Intracranial necrotizing granulomatous space-occupying lesions are sparsely reported in literature. Variability in presenting symptomatology and radiographic features makes diagnostic work-up difficult. CASE PRESENTATION: This report presents the case of a 77-year-old female with sinusitis and fatigue who underwent an MRI revealing a posterior fossa lesion compressing the fourth ventricle. Subsequent contrast CT of the chest, abdomen, and pelvis was negative for primary malignancy. Histopathologic examination of the lesion following biopsy showed it to be a necrotizing granuloma in an antineutrophil cytoplasmic antibody (ANCA) negative patient. The most likely diagnosis was determined to be spontaneous necrotizing granuloma, a rare entity with only one previous report noted. CONCLUSIONS: Spontaneous necrotizing granuloma of the CNS is a rare entity that represents an important differential consideration in the work-up of space occupying lesions of the CNS.


Assuntos
Doenças Cerebelares , Cerebelo , Granuloma , Necrose , Idoso , Biópsia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Feminino , Humanos , Imagem por Ressonância Magnética
13.
JAMA Netw Open ; 3(6): e205719, 2020 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-32515796

RESUMO

Importance: Understanding the association of lifestyle factors with mild cognitive impairment enables the development of evidence-based interventions for delaying cognitive impairment. Objective: To explore whether objectively measured lifestyle factors, such as physical activity, conversation, and sleep, are associated with cortical amyloid burden and cerebral glucose metabolism in older adults with mild cognitive impairment. Design, Setting, and Participants: This cohort study included 855 community-dwelling adults in Usuki, Oita Prefecture, Japan, aged 65 years or older. Data were collected from August 2015 to December 2017. Participants were reviewed to examine risk and protective lifestyle factors for dementia. Data analysis was conducted in June 2019. Exposures: Wearable sensors, carbon-11 labeled Pittsburgh compound B positron emission tomography images, and fluorine-18 fluorodeoxyglucose positron emission tomography images. Main Outcomes and Measures: Wearable sensor data, such as walking steps, conversation time, and sleep, were collected from August 2015 to October 2017, and positron emission tomography images were collected from October 2015 to December 2017. A multiple regression model and change-point regression model were used to examine the association of lifestyle factors with mean amyloid or fluorodeoxyglucose uptake, assessed on the basis of a standardized uptake value ratio of the frontal lobes, temporoparietal lobes, and posterior cingulate gyrus with the cerebellar cortex as the reference region. The bootstrap method was used to obtain nonparametric 95% CIs on the associations of lifestyle factors with cognitive decline. Results: Of the 855 adults in the study, 118 (13.8%) were diagnosed with mild cognitive impairment, with a mean (SD) age of 75.7 (5.8) years and 66 (55.9%) women. Total sleep time was inversely associated with fluorodeoxyglucose uptake after adjusting for covariates (ß = -0.287; 95% CI, -0.452 to -0.121, P < .001). Change-point regression showed an inverse association between total sleep time and mean amyloid uptake when sleep duration was longer than 325 minutes (B = -0.0018; 95% CI, -0.0031 to -0.0007). Conclusions and Relevance: To our knowledge, this is the first study to demonstrate that total sleep time was associated with brain function in older adults with mild cognitive impairment. Sleep duration is a potentially modifiable risk factor for dementia at the mild cognitive impairment stage.


Assuntos
Amiloide/metabolismo , Disfunção Cognitiva/metabolismo , Glucose/metabolismo , Estilo de Vida , Idoso , Idoso de 80 Anos ou mais , Cerebelo/diagnóstico por imagem , Cerebelo/metabolismo , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/metabolismo , Feminino , Monitores de Aptidão Física , Fluordesoxiglucose F18 , Humanos , Masculino , Tomografia por Emissão de Pósitrons , Estudos Prospectivos , Sono/fisiologia , Fala/fisiologia , Caminhada/fisiologia
14.
Int J Pediatr Otorhinolaryngol ; 134: 110048, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32353617

RESUMO

Acute vestibular syndrome is most often caused by vestibular neuritis or stroke, although demyelinating diseases may be responsible for 4% of all AVS episodes. The authors present the case of a previously healthy 17-year-old female patient complaining of spontaneous vertigo and right-sided hearing loss. Otoneurological examination suggested a peripheral vestibular cause and video head impulse test revealed a reduced vestibulo-ocular reflex gain. The presence of sensorineural hearing loss raised the suspicion of a central cause and prompted imaging evaluation. A brain MRI evidenced demyelinating lesions in the right middle cerebellar peduncle and the patient was ultimately diagnosed with Multiple Sclerosis.


Assuntos
Cerebelo/diagnóstico por imagem , Perda Auditiva Neurossensorial/diagnóstico , Labirintite/diagnóstico , Pedúnculo Cerebelar Médio/diagnóstico por imagem , Esclerose Múltipla Recidivante-Remitente/diagnóstico , Neuronite Vestibular/diagnóstico , Doença Aguda , Adolescente , Audiometria de Tons Puros , Audiometria da Fala , Diagnóstico Diferencial , Feminino , Teste do Impulso da Cabeça , Perda Auditiva Neurossensorial/etiologia , Humanos , Imagem por Ressonância Magnética , Esclerose Múltipla Recidivante-Remitente/complicações , Náusea/etiologia , Nistagmo Patológico/diagnóstico , Nistagmo Patológico/etiologia , Reflexo Vestíbulo-Ocular , Vertigem/etiologia , Neuronite Vestibular/etiologia , Vômito/etiologia
15.
BMC Neurol ; 20(1): 167, 2020 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-32357846

RESUMO

BACKGROUND: Stroke-like episodes (SLEs) in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with m.3243A > G mutation usually develop in the cerebral cortex. Few reports have documented SLEs in the cerebellum. The clinical neuroimaging features of cerebellar SLEs have not been fully investigated. We report distinctive features of cerebellar stroke-like lesions (SLLs) in a case of MELAS with m.3243A > G mutation. CASE PRESENTATION: A 47-year-old Japanese man with type-2 diabetes presented to our hospital with acute onset of aphasia. A brain MRI obtained on admission (day 1) showed increased diffusion-weighted imaging (DWI)/fluid-attenuated inversion recovery (FLAIR) signal in the left anterolateral temporal lobe, which subsequently spread along the cortex posteriorly accompanied by a new lesion in the right anterior temporal lobe. The patient was initially treated with acyclovir and subsequently with immunotherapy. However, on day 45, cerebellar ataxia developed. The brain MRI showed extensive increased DWI/FLAIR signals in the cerebellum along the folia without involvement of deep cerebellar nucleus or cerebellar peduncle; SLLs were incongruent with a vascular territory, similarly to classic cerebral SLLs. Apparent diffusion coefficient (ADC) map did not show reduction in ADC values in the affected folia. Genomic analysis revealed m.3243A > G mutation (heteroplasmy in leukocytes, 17%), confirming the diagnosis of MELAS. After the treatment with taurine (12,000 mg/day), L-arginine (12,000 mg/day), vitamin B1 (100 mg/day), and carnitine (3000 mg/day), the patient became able to follow simple commands, and he was transferred to a rehabilitation center on day 146. The follow-up MRI showed diffuse brain atrophy, including the cerebellum. CONCLUSIONS: SLLs develop in the cerebellum in MELAS with m.3243A > G mutation. The neuroimaging similarities to cerebral SLLs suggest the presence of the common pathophysiological mechanisms underlying both SLEs, which include microangiopathy and increased susceptibility of the cortex to metabolic derangements.


Assuntos
Cerebelo , Síndrome MELAS , Acidente Vascular Cerebral , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Cerebelo/fisiopatologia , Humanos , Síndrome MELAS/complicações , Síndrome MELAS/diagnóstico por imagem , Síndrome MELAS/genética , Síndrome MELAS/fisiopatologia , Masculino , Pessoa de Meia-Idade , Mutação/genética , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/genética , Acidente Vascular Cerebral/fisiopatologia
16.
BMC Neurol ; 20(1): 207, 2020 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-32450808

RESUMO

BACKGROUND: Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family with autosomal recessive spinocerebellar ataxia (Salih ataxia, SCAR15, OMIM # 615705). The present report describes the clinical, neurophysiologic, neuroimaging, and genetic findings in a second unrelated Saudi family with two affected children harboring identical homozygous frameshift mutation in the gene. It also explores and documents an ancient founder cerebellar ataxia mutation in the Arabian Peninsula. CASE PRESENTATION: The present family has two affected males (aged 6.5 and 17 years) with unsteady gait apparent since learning to walk at 2.5 and 3 years, respectively. The younger patient showed gait ataxia and normal reflexes. The older patient had saccadic eye movement, dysarthria, mild upper and lower limb and gait ataxia (on tandem walking), and enhanced reflexes in the lower limbs. Cognitive abilities were mildly impaired in the younger sibling (IQ 67) and borderline in the older patient (IQ 72). Nerve conduction studies were normal in both patients. MRI was normal at 2.5 years in the younger sibling. Brain MRI showed normal cerebellar volume and folia in the older sibling at the age of 6 years, and revealed minimal superior vermian atrophy at the age of 16 years. Autozygome and exome analysis showed both affected have previously reported homoallelic mutation in RUBCN (NM_014687:exon18:c.2624delC:p.A875fs), whereas the parents are carriers. Autozygosity mapping focused on smallest haplotype on chromosome 3 and mutation age analysis revealed the mutation occurred approximately 1550 years ago spanning about 62 generations. CONCLUSIONS: Our findings validate the slowly progressive phenotype of Salih ataxia (SCAR15, OMIM # 615705) by an additional family. Haplotype sharing attests to a common founder, an ancient RUBCN mutation in the Arab population.


Assuntos
Proteínas Relacionadas à Autofagia/genética , Mutação da Fase de Leitura/genética , Ataxias Espinocerebelares , Adolescente , Cerebelo/diagnóstico por imagem , Criança , Disfunção Cognitiva , Marcha Atáxica , Humanos , Imagem por Ressonância Magnética , Masculino , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/genética
17.
Eur Neurol ; 83(1): 80-86, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32320983

RESUMO

We report the case of a 52-year-old Japanese man who, while he had no cerebellar ataxia or parkinsonism, was revealed to have silent cerebellar hypoperfusion/mild cerebellar atrophy and sacral autonomic disorder. His sacral autonomic disorder was urinary retention without marked prostate hyperplasia. Urodynamics-sphincter electromyography revealed detrusor hyperactivity with impaired contraction and neurogenic changes of the sphincter motor unit potentials. Although he did not have a motor disorder, these features suggested possible multiple system atrophy-cerebellar (MSA-C) form. The present case report suggests that neuroimaging helps in diagnosing "premotor" MSA-C form in situ.


Assuntos
Atrofia de Múltiplos Sistemas/complicações , Atrofia de Múltiplos Sistemas/diagnóstico por imagem , Retenção Urinária/etiologia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Atrofia de Múltiplos Sistemas/patologia , Neuroimagem/métodos , Tomografia Computadorizada com Tomografia Computadorizada de Emissão de Fóton Único/métodos
18.
Nat Methods ; 17(6): 605-608, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32341543

RESUMO

Behaviors emerge from activity throughout the brain, but noninvasive optical access in adult vertebrate brains is limited. We show that three-photon (3P) imaging through the head of intact adult zebrafish allows structural and functional imaging at cellular resolution throughout the telencephalon and deep into the cerebellum and optic tectum. With 3P imaging, considerable portions of the brain become noninvasively accessible from embryo to sexually mature adult in a vertebrate model.


Assuntos
Cerebelo/diagnóstico por imagem , Imageamento Tridimensional/métodos , Fótons , Colículos Superiores/diagnóstico por imagem , Telencéfalo/diagnóstico por imagem , Peixe-Zebra/anatomia & histologia , Animais
19.
Biochem Pharmacol ; 177: 113979, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32298690

RESUMO

The remarkable effects exhibited by classical psychedelics in recent clinical trials have spawned considerable interest in 5-HT2A receptor (5-HT2AR) activation as a treatment strategy for several psychiatric/cognitive disorders. In this study we have continued our development of 25CN-NBOH, one of the most 5-HT2AR-selective agonists reported to date, as a pharmacological tool for exploration of 5-HT2AR expression and functions. The importance of the 2' and 3' positions in 25CN-NBOH as structural hotspots for its 5-HT2AR activity was investigated by synthesis and pharmacological characterization of six novel analogs at 5-HT2AR and 5-HT2CR in binding and functional assays. While the 5-HT2AR activity of 25CN-NBOH was retained in 3'-methyl, 2',3'-chroman, 2',3'-dihydrofuran and 2',3'-furan analogs, the 3'-methoxy and 3'-ethyl analogs displayed substantially lower binding affinities and agonist potencies than 25CN-NBOH. Interestingly, the 2',3'-substitution pattern was also a key determinant of agonist efficacy, as all six analogs exhibited low-efficacy partial agonism or de facto antagonism at the 5-HT2AR in the functional assays. Systemic administration of 25CN-NBOH and its close structural analog 25CN-NBMD induced robust head-twitch response in mice, a well-established behavioural effect of 5-HT2AR activation in vivo, and 25CN-NBOH mediated robust reductions in the activity of mice in an anxiety-related marble burying assay, which supports the proposed beneficial effects of 5-HT2AR activation on disorders characterized by cognitive rigidity. Finally, tritiated 25CN-NBOH exhibited high 5-HT2AR binding affinity (KD ~1 nM) and selectivity against 5-HT2BR and 5-HT2CR in equilibrium and kinetic binding studies of the recombinant receptors, and in concordance [3H]25CN-NBOH displayed substantial specific, ketanserin-sensitive binding to cortex and small levels of binding to choroid plexus in rat brain slices in autoradiography studies. In conclusion, this work delineates the subtle molecular determinants of the 5-HT2AR activity in 25CN-NBOH, substantiates the potential in this compound and its analogs as tools for in vivo studies of the 5-HT2AR, and introduces a novel selective agonist radioligand as another potentially valuable tool for future explorations of this receptor.


Assuntos
Benzofuranos/farmacologia , Benzilaminas/farmacologia , Alucinógenos/farmacologia , Nitrilos/farmacologia , Receptor 5-HT2A de Serotonina/metabolismo , Agonistas do Receptor 5-HT2 de Serotonina/farmacologia , Animais , Benzofuranos/síntese química , Benzilaminas/síntese química , Sítios de Ligação , Cerebelo/diagnóstico por imagem , Cerebelo/efeitos dos fármacos , Cerebelo/metabolismo , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/efeitos dos fármacos , Córtex Cerebral/metabolismo , Plexo Corióideo/diagnóstico por imagem , Plexo Corióideo/efeitos dos fármacos , Plexo Corióideo/metabolismo , Feminino , Células HEK293 , Alucinógenos/síntese química , Humanos , Cinética , Locomoção/efeitos dos fármacos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Nitrilos/síntese química , Ligação Proteica , Ratos , Ratos Long-Evans , Agonistas do Receptor 5-HT2 de Serotonina/síntese química , Relação Estrutura-Atividade
20.
AJNR Am J Neuroradiol ; 41(5): 923-928, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32327437

RESUMO

BACKGROUND AND PURPOSE: Focal signal abnormalities at the depth of the cerebellar fissures in children have recently been reported to represent a novel pattern of bottom-of-fissure dysplasia. We describe a series of patients with a similar distribution and appearance of cerebellar signal abnormality attributable to watershed injury. MATERIALS AND METHODS: Twenty-three children with MR imaging findings of focal T2 prolongation in the cerebellar gray matter and immediate subjacent white matter at the depth of the fissures were included. MR imaging examinations were qualitatively analyzed for the characteristics and distribution of signal abnormality within posterior fossa structures, the presence and distribution of volume loss, the presence of abnormal contrast enhancement, and the presence and pattern of supratentorial injury. RESULTS: T2 prolongation was observed at the depths of the cerebellar fissures bilaterally in all 23 patients, centered at the expected location of the deep cerebellar vascular borderzone. Diffusion restriction was associated with MR imaging performed during acute injury in 13/16 patients. Five of 23 patients had prior imaging, all demonstrating a normal cerebellum. The etiology of injury was hypoxic-ischemic injury in 17/23 patients, posterior reversible encephalopathy syndrome in 3/23 patients, and indeterminate in 3/23 patients. Twenty of 23 patients demonstrated an associated classic parasagittal watershed pattern of supratentorial cortical injury. Injury in the chronic phase was associated with relatively preserved gray matter volume in 8/15 patients, closely matching the published appearance of bottom-of-fissure dysplasia. CONCLUSIONS: In a series of patients with findings similar in appearance to the recently described bottom-of-fissure dysplasia, we have demonstrated a stereotyped pattern of injury attributable to cerebellar watershed injury.


Assuntos
Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Neuroimagem/métodos , Síndrome da Leucoencefalopatia Posterior/diagnóstico por imagem , Síndrome da Leucoencefalopatia Posterior/patologia , Criança , Pré-Escolar , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Masculino
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