29 research outputs found

    Non-motor symptoms in multiple system atrophy: A comparative study with Parkinson's disease and progressive supranuclear palsy

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    BackgroundNon-motor symptoms (NMS) are compulsory clinical features for the clinical diagnosis of multiple system atrophy (MSA), some of which precede motor symptoms onset. To date, few studies have systematically investigated NMS in MSA and the timing of presenting NMS as the disease progresses. Clinically, MSA is difficult to be differentiated from Parkinson's disease (PD) and progressive supranuclear palsy (PSP), and the differences in NMS between MSA and PD/PSP remain unclear. The aim of this study was to compare the burden of NMS between MSA and PD/PSP and to delineate the timing of NMS presentation relative to the onset of motor symptoms in MSA.MethodsA total of 61, 87, and 30 patients with MSA, PD, and PSP, respectively, were enrolled in this study. NMS was systematically assessed in all patients using the NMS scale (NMSS), and the onset of NMS relative to the onset of motor symptoms in MSA was investigated.ResultsMSA group had higher total NMSS scores (82.15 ± 46.10) than the PD (36.14 ± 30.78) and PSP (50.30 ± 55.05) groups (p < 0.001 overall). The number distribution pattern of the NMS was significantly different among the three parkinsonian disorders (p < 0.001 overall). In total, 85.2% of patients with MSA had more than 10 NMS, which was significantly higher than PD (28.7%) and PSP (33.3%). The frequency and scores of many NMSS subdomains and symptoms were higher in MSA than in PD and PSP (all p < 0.05). Multivariate logistic regression analysis revealed that patients with fainting, lack of motivation, swallowing, and loss of sexual interest could be attributed to MSA rather than PD or PSP, while patients with loss of concentration and forgetfulness were characteristic features of PD or PSP rather than MSA. REM-sleep behavior disorder (RBD), constipation, problems having sex, and loss of sexual interest preceded the motor symptoms onset of MSA by 2.81 ± 4.51, 1.54 ± 6.32, 1.35 ± 4.70, and 0.45 ± 3.61 years, respectively.ConclusionThe NMS spectrum in MSA differs from that of PD and PSP. Patients with MSA have a higher NMS burden than patients with PD or PSP. RBD, constipation, problems having sex, and loss of sexual interest may become early diagnostic clinical markers of MSA

    The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission

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    Ongoing challenges in diagnosing focal cortical dysplasia (FCD) mandate continuous research and consensus agreement to improve disease definition and classification. An International League Against Epilepsy (ILAE) Task Force (TF) reviewed the FCD classification of 2011 to identify existing gaps and provide a timely update. The following methodology was applied to achieve this goal: a survey of published literature indexed with ((Focal Cortical Dysplasia) AND (epilepsy)) between 01/01/2012 and 06/30/2021 (n = 1349) in PubMed identified the knowledge gained since 2012 and new developments in the field. An online survey consulted the ILAE community about the current use of the FCD classification scheme with 367 people answering. The TF performed an iterative clinico-pathological and genetic agreement study to objectively measure the diagnostic gap in blood/brain samples from 22 patients suspicious for FCD and submitted to epilepsy surgery. The literature confirmed new molecular-genetic characterizations involving the mechanistic Target Of Rapamycin (mTOR) pathway in FCD type II (FCDII), and SLC35A2 in mild malformations of cortical development (mMCDs) with oligodendroglial hyperplasia (MOGHE). The electro-clinical-imaging phenotypes and surgical outcomes were better defined and validated for FCDII. Little new information was acquired on clinical, histopathological, or genetic characteristics of FCD type I (FCDI) and FCD type III (FCDIII). The survey identified mMCDs, FCDI, and genetic characterization as fields for improvement in an updated classification. Our iterative clinico-pathological and genetic agreement study confirmed the importance of immunohistochemical staining, neuroimaging, and genetic tests to improve the diagnostic yield. The TF proposes to include mMCDs, MOGHE, and “no definite FCD on histopathology” as new categories in the updated FCD classification. The histopathological classification can be further augmented by advanced neuroimaging and genetic studies to comprehensively diagnose FCD subtypes; these different levels should then be integrated into a multi-layered diagnostic scheme. This update may help to foster multidisciplinary efforts toward a better understanding of FCD and the development of novel targeted treatment options

    Research progress on pathology of intractable epilepsy

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    With increased surgical operation samples of intractable epilepsy, there are sufficient cases for neuropathological study. Some new studies and consensus on classification of malformations of cortical development or hippocampal sclerosis were proposed recently. Moreover, researches using molecular and genetic methods have provided new opinions for disease spectrum and pathogenesis of epilepsy associated lesions. In the next few years, further studies on the molecular pathology and epileptogenesis of the epileptic foci are necessary. doi: 10.3969/j.issn.1672-6731.2014.12.003</p

    Amyloid β-related central nervous system vasculitis

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    Amyloid β (Aβ)-related central nervous system (CNS) vasculitis, which is also known as cerebral amyloid angiopathy (CAA)-related CNS vasculitis, is characterized by the presence of chronic inflammation within or around the walls of Aβ-deposit blood vessels. Cerebral biopsy is the gold standard for diagnosis of A β-related CNS vasculitis considering the atypical clinical features, cerebrospinal fluid (CSF) and neuroimaging findings of some patients. This paper reviewed the pathogenesis, neuropathology, clinical features, treatment and prognosis of Aβ-related CNS vasculitis. DOI: 10.3969/j.issn.1672-6731.2016.01.002</p

    Molecular pathology and targeted therapy of common tumors in central nervous system

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    It is difficult to cure central nervous system tumors using traditional method, due to chemotherapy drugs lack of specificity. They kill the tumor cells, and damage normal tissues and organs at the same time. The latest hotspot is targeted therapy on the specific molecules in the molecular pathway of central nervous system tumor cells. This review introduces the relationship between molecularly biological characteristics of medulloblastoma, oligodendrocytoma, glioblastoma and the prognosis in the view of critical intracellular pathway and genetic mutation. Furthermore, it reviews the current situation and progress of targeted therapy of tumors. As a consequence, it offers some new information for the individualized therapy of central nervous system tumors. doi: 10.3969/j.issn.1672-6731.2014.12.017</p

    Progress in clinicopathologic research of lymphomatosis cerebri

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    Lymphomatosis cerebri (LC) is a rare variant of primary central nervous system lymphoma. It presents usually as rapidly progressive dementia and is accompanied by extensive white matter changes without formation of a cohesive mass in magnetic resonance imaging (MRI). The main pathological feature is diffuse infiltration in the white matter by individual neoplastic cells without formation of a cohesive tumor mass. The neurobehavioral deficits manifested by the patients demonstrate that lymphomatosis cerebri is an additional neoplastic cause of white matter dementia and can be added to the growing list of disorders responsible for this syndrome. Early pathological examination is important for specific treatment and interventions. Although more attention has been paid on lymphomatosis cerebri in clinical course, the knowledge about this disease is still on the base of case reports and lacks of systematic analysis both at home and abroad. We reviewed the case reports abroad and collected clinical and pathological data of 17 individuals who were diagnosed lymphomatosis cerebri through biopsy and (or) autopsy in the hope of deep and overall recognition of this disease. DOI:10.3969/j.issn.1672⁃6731.2012.05.02

    The 2016 WHO Classification of Tumors of the Central Nervous System: the experience of new classifications

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    Central nervous system tumors are common tumors encountered by neurosurgeons. With the development of molecular genetics, molecular genetic characteristics are applied to the 2016 World Health Organization (WHO) Classification of Tumors of the Central Nervous System and tumor classification was updated combined the histological and molecular genetic characteristics of tumors. According to isocitrate dehydrogenase (IDH) gene mutation and 1p/19q codeletion, new lassifications of gliomas are defined. RELA fusion?positive ependymoma is defined according to RELA gene fusion. Embryonal tumors, especially medulloblastoma increased the diagnosis of molecular typing. Combining the characteristics of tumor molecular genetics is helpful for clinicians to understand the development and progression, and improve the treatment of tumors, but we still can not ignore the basic role of histology. DOI: 10.3969/j.issn.1672-6731.2018.05.00

    A clinicopathologic analysis of primary central nervous system lymphomatoid granulomatosis: case report and literature review

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    Objective To investigate the clinical, neuroimaging and histopathological features of primary central nervous system lymphomatoid granulomatosis (LG). Methods The clinical manifestation, neuroimaging, histopathological and biological features of a patient with primary central nervous system LG were presented, and the related literatures were reviewed. Results A 57⁃year⁃old male presented with memory impairment, weak in orientation, calculation, apprehension and judgment for 3 months. Magnetic resonance imaging (MRI) showed space⁃occupying lesions in bilateral frontal lobes, with T1WI isointensity and T2WI hyperintensity, and the enhancement was irregular. The lesion was slight expansive with yellow surface and gray⁃white section in color and soft texture and abundant blood supply. Microscopically, the lesion was characterized by angiocentric and angiodestructive lymphoproliferation, partly showed the structure of LG characterized by T cell predominant proliferation, macrophage infiltration, astrocyte activation, small vessel proliferation and hyalinization, and partly showed the structure of lymphoma characterized by diffuse atypical B cell proliferation, with IgK monoclonal production. Epstein⁃Barr virus (EBV) was negative. Conclusion As a precursor disease of lymphoma, LG should be considered in the differential diagnosis of both diffuse and multifocal lesions of the central nervous system. The relavance between primary central nervous system LG and EBV infection should be further discussed. DOI:10.3969/j.issn.1672⁃6731.2012.05.01
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