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Background: Neuronal intranuclear inclusion disease (NIID) is a rare chronic progressive neurodegenerative disease, with complex and diverse clinical manifestations and pathological eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous systems and visceral organs. Improvements in diagnostic methods such as skin biopsy and gene testing are helpful in revealing the clinical and genetic characters of NIID. Materials and methods: We presented two cases of NIID diagnosed by using NOTCH2NLC gene testing and skin biopsy. Diffusion weighted imaging (DWI) showed high linear intensity in corticomedullary junction. We also reviewed all the published NIID cases with positive NOTCH2NLC GGC repeat expansion and skin biopsy results in PubMed. Results: Patient 1 was a 63-year-old male who carried 148 GGC repeats and presented with progressive tremor and limb weakness. Patient 2 was a 62-year-old woman who carried 131 GGC repeats and presented with tremors, memory loss and headaches. The most common clinical manifestation of 63 NIID patients in this study was cognitive impairment, followed by tremors. In our study, almost all the patients were from East Asia, the male to female ratio was 1:1.26, with an age of onset of 54.12 ± 14.12 years, and an age of diagnosis of 60.03 ± 12.21 years. Symmetrical high signal intensity at the corticomedullary junction on DWI were revealed in 80.96% of the patients. For the GGC repeat numbers, the majority of GGC repeats were in the 80-119 intervals, with few GGC repeats above 160. The number of GGC repetitions was significantly higher in patients presented with muscle weakness than in other clinical manifestations. Conclusion: NIID is a neurodegenerative disease caused by aberrant polyglycine (polyG) protein aggregation. NIID mostly occurs in the elderly population in East Asia, with cognitive dysfunction as the most common symptom. Staging NIID based on clinical presentation is inappropriate because most patients with NIID have overlapping symptoms. In our study, there was no significant correlation between the number of GGC repeats and different phenotypes except for muscle weakness. Abnormal trinucleotides repeat and PolyG protein aggregation maybe common pathogenic mechanism in neurodegenerative diseases and cerebrovascular diseases, which needs to be confirmed by more studies. [ABSTRACT FROM AUTHOR]

Objective: It is still a challenge to distinguish sentinel lesions of primary central nervous system lymphoma (PCNSL) from atypical tumefactive demyelinating lesions (TDLs) in clinical practice. We aimed to investigate potential differences of clinical features, neuroimaging findings and pathological characteristics between PCNSL and TDLs, improving early accurate diagnosis. Methods: It was a retrospective study involving 116 patients with TDLs and 150 patients with PCNSLs. All cases were pathologically confirmed. Clinical features, neuroimaging findings and pathological characteristics between two groups were analyzed. Results: The onset age was 37 ± 14 years in TDLs and 58 ± 13 years in PCNSL (p=0.000). Main onset symptom was headache in TDLs, while cognitive impairment was frequently noted in PCNSL. CT brain scan image showed hypodense lesions in most cases of TDL (110/116, 94.8%), while approximately 80% patients (120/150) with PCNSL had hyperdense lesions. Furthermore, we found that the presence of Creutzfeldt-Peters cells (might be misdiagnosed as tumor cells) may serve as an important feature in TDLs. Conclusions: Onset age of patients with TDLs was younger than PCNSL. Neuroimaging features on brain CT scan might provide clues to make a differential diagnosis. Pathological features of PCNSL with sentinel lesions or following steroids therapy might mimic TDLs. Dynamic neuroimaging pathological and follow-up information were essential for an accurate diagnosis. [ABSTRACT FROM AUTHOR]

Introduction: Alzheimer's disease (AD) is a neurodegenerative disease which presents with an earlier age of onset and increased symptom severity. The objective of this study was to evaluate the relationship between regulation of miRNAs and AD.Material and Methods: We completed a bioinformatic analysis of miRNA-AD studies through multiple databases such as TargetScan, Database for Annotation, Visualization and Integrated Discovery (DAVID), FunRich and String and assessed which miRNAs are commonly elevated or decreased in brain tissues, cerebrospinal fluid (CSF) and blood of AD patients. All identified articles were assessed using specific inclusion and exclusion criteria.Results: MiRNAs related to AD of twenty-eight studies were assessed in this study. A wide range of miRNAs were up-regulated or down-regulated in tissues of AD patients' brain, blood and CSF. Twenty-seven differentially dysregulated miRNAs involved in amyloidogenesis, inflammation, tau phosphorylation, apoptosis, synaptogenesis, neurotrophism, neuron degradation, and activation of cell cycle entry were identified. Additionally, our bioinformatics analysis identified the top ten functions of common miRNAs in candidate studies. The functions of common up-regulated miRNAs primarily target the nucleus and common down-regulated miRNAs primarily target transcription, DNA-templated.Conclusions: Comprehensive analysis of all miRNA studies reveals cooperation in miRNA signatures whether in brain tissues or in CSF and peripheral blood. More and more studies suggest that miRNAs may play crucial roles as diagnostic biomarkers and/or as new therapeutic targets in AD. According to biomarkers, we can identify the preclinical phase early, which provides an important time window for therapeutic intervention. [ABSTRACT FROM AUTHOR]

Isolated cortical vein thrombosis (ICoVT) is a rare form of cerebral venous thrombosis and is easily misdiagnosed as brain tumor due to its atypical clinical presentations and radiological findings similar to brain tumors. The present study focused on 4 patients with ICoVT, 2 men and 2 women. In the 2 male patients, the onset of disease was insidious, with progressive numbness and weakness in limbs as the major symptoms. By contrast, 2 female patients suffered from acute onset of symptoms, presenting with headache and seizures. Brain computed tomography and magnetic resonance imaging showed large hemorrhagic lesions surrounded by massive edemas in the 4 patients. Brain biopsies were performed in the 4 patients due to concern for brain tumors. However, the pathological results supported the diagnosis of ICoVT, and the subsequent anticoagulant treatment administered was effective for all 4 patients. In conclusion, ICoVT can be easily misdiagnosed as brain tumor because of the atypical clinical and imaging features. The results suggested that the possibility of ICoVT always be considered in patients with neuroimaging showing cortical hemorrhagic lesions with massive edemas. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented regarding the case study of a 43-year-old man who was diagnosed and treated for his neurolymphomatosis (NL) or diffuse large B-cell non-Hodgkin lymphoma.