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Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations and at least 16 suicidal attempts. The genetic study demonstrated a novel homozygous stop-codon mutation on the WFS1 gene. This special type of mutation may be related to repetitive suicidal behaviors in this case of WS. Psychological support should be a routine practice in patients with WS.

Background Recently, the early diagnosis of Alzheimer's disease has gained major attention due to the growing prevalence of the disease and the resulting costs to individuals and society. The main objective of this study was to propose an ensemble method based on deep learning for the early diagnosis of AD using MRI images.Method The methodology of this study was comprised of collecting the dataset, preprocessing, creating the individual and ensemble models, evaluating the models based on ADNI data, and validating the trained model based on the local dataset. The proposed method was an ensemble approach selected through a comparative analysis of various ensemble scenarios. Finally, the six best individual CNN-based classifiers were selected to combine and constitute the ensemble model.Results The evaluation showed an accuracy rate of 98.57, 96.37, 94.22, 99.83, 93.88, and 93.92, respectively, for NC/AD, NC/EMCI, EMCI/LMCI, LMCI/AD, four-way and three-way classification groups. The validation results on the local dataset revealed an accuracy of 88.46 for three-way classification.Discussion Our performance results were higher than most reviewed studies and comparable with others. Although comparative analysis showed superior results of ensemble methods against individual architectures, there were no significant differences among various ensemble approaches. The validation results revealed that individual models showed low performance in practice. In contrast, the ensemble method showed promising results. However, further studies on various and larger datasets are required to validate the generalizability of the model.

The patient is a 33-year-old Iranian woman without a significant past medical history with the full range of narcolepsy symptoms that started within two weeks after her recovery from COVID-19. Sleep studies revealed increased sleep latency and three sleep-onset rapid eye movement events, compatible with a narcolepsy-cataplexy diagnosis.

A 64-year-old man presented with asymmetric paresthesia and subsequent weakness of his feet and a 10-kg weight loss over 40 days. Electrodiagnostic studies revealed distal axonal sensory-motor polyneuropathy with ongoing axonal loss. A peroneal nerve biopsy showed intravascular proliferation of CD-20 positive lymphocytes, which suggested intravascular large B-cell lymphoma.

Background: Amyotrophic lateral sclerosis (ALS) is an adult-onset motor neuron disease which leads to limb and/or bulbar muscle degeneration with a poor prognosis. Several demographic and biological factors have prognostic importance, but little data exist on the relationship between clinical, electrodiagnostic, and laboratory markers as predictors of disease progression. We aimed to assess the relationships between different aspects of clinical, electrodiagnostic, and laboratory features of ALS patients with their level of functioning. Methods: We included 27 patients with ALS who were diagnosed within two years before enrolment. Clinical assessment and electrodiagnostic studies were done by a neurology resident. The motor unit number index (MUNIX) and compound motor action potential (CMAP) were used as measures of motor unit loss. Serum creatinine, urea, Albumin, and creatine kinase were measured as laboratory markers. We used the Persian version of ALS functional rating scale (ALS-FRS) as the main outcome measure. Data were analyzed using the SPSS software. Pearson's correlation coefficient was calculated to test for correlations. Results: None of the demographic or laboratory parameters correlated with ALS-FRS. Patients with the onset of disease in the limbs had a higher MUNIX score compared to patients with a bulbar onset. Also, increased body mass index was associated with lower CMAP and MUNIX scores (p-value:0.02). Higher serum creatinine levels were significantly associated with higher lower limb MUNIX (p value:0.04). Higher lower limb MUNIX was in turn associated with higher lower limb functional score (ALS-FRS). Conclusion: Decreased serum creatinine may possibly be an indicator of lower limb motor unit loss in patients with ALS. Also, MUNIX scores may be used as surrogates for ALS-FRS in ALS trials. Further research is needed to elucidate the clinical application of these findings.Methods: We included 27 patients with ALS who were diagnosed within two years before enrolment. Clinical assessment and electrodiagnostic studies were done by a neurology resident. The motor unit number index (MUNIX) and compound motor action potential (CMAP) were used as measures of motor unit loss. Serum creatinine, urea, Albumin, and creatine kinase were measured as laboratory markers. We used the Persian version of ALS functional rating scale (ALS-FRS) as the main outcome measure. Data were analyzed using the SPSS software. Pearson's correlation coefficient was calculated to test for correlations. Results: None of the demographic or laboratory parameters correlated with ALS-FRS. Patients with the onset of disease in the limbs had a higher MUNIX score compared to patients with a bulbar onset. Also, increased body mass index was associated with lower CMAP and MUNIX scores (p-value:0.02). Higher serum creatinine levels were significantly associated with higher lower limb MUNIX (p value:0.04). Higher lower limb MUNIX was in turn associated with higher lower limb functional score (ALS-FRS). Conclusion: Decreased serum creatinine may possibly be an indicator of lower limb motor unit loss in patients with ALS. Also, MUNIX scores may be used as surrogates for ALS-FRS in ALS trials. Further research is needed to elucidate the clinical application of these findings.

Background: One of the main parts of the early treatment of Acute Ischemic Stroke (AIS) is the attitude and knowledge of Emergency Medicine (EM) specialists. This study aimed to investigate the knowledge and attitude of emergency physicians working in Iran about the prescription of tissue Plasminogen Activator (tPA) in AIS. Methods: This was a cross-sectional questionnaire-based study including EM physicians working in different cities of Iran in 2020. A previously used English questionnaire was translated into Persian. After face validity and reliability assessment, the final questionnaire was designed as a Google form and sent to 400 EM professionals. Results: 128 physicians filled in the forms. 64.8% of participants had sufficient attitude and 68% had sufficient knowledge about tPA treatment in AIS. The knowledge regarding tPA treatment was higher in the age>40 years, male gender and physicians with up-to-date information (P40 years were the major predictors of higher knowledge of AIS treatment. Holding some training workshops together with strengthening infrastructures such as establishing intensive stroke units would help to increase the use of tPA in AIS in Iran.

Frontotemporal dementia (FTD) is among the most prevalent causes of young-onset dementia . Along with the frontotemporal and striate atrophy, dopamine dysregulation is also present in FTD. The dopamine system controls mechanisms of time perception. Its depletion can cause miscalculations in the perception of time. We present a 72-year-old man with a unique profile of disorientation in time, such that he split each day into two, 12-h intervals. Although through each 12-h period, he went by his daily activities as if a complete day had passed, e.g., he had two sets of breakfast, lunch, and dinner , hence the designated "split-day syndrome."

Background: Since the COVID-19 pandemic, several cases of cerebral venous sinus thrombosis (CVST) have been reported in SARS-CoV-2 infected individuals. This study provides a series of patients with CVST and SARS-CoV-2 infection.Methods: Consecutive patients with documented SARS-CoV-2 infection, as well as clinical and radiological characteristics of CVST, were reported from three teaching hospitals in the South West, North West, and the center of Iran from June to July 2020. We also searched the abstract archives until the end of August 2020 and gathered 28 reported cases. The diagnostic criteria for SARS-CoV-2 infection were determined according to SARS-CoV-2 detection in oropharyngeal or nasopharyngeal samples in clinically suspected patients. Demographics, main COVID-19 symptoms, confirmatory tests for SARS-CoV-2 infection diagnosis, the interval between the diagnosis of SARS-CoV-2 infection and CVST, clinical and radiological features of CVST, therapeutic strategies, CVST outcomes, rate of hemorrhagic transformation, and mortality rate were investigated.Results: Six patients (aged 31 to 62 years old) with confirmed CVST and SARS-CoV-2 infection were admitted to our centers. Four patients had no respiratory symptoms of SARS-CoV-2 infection. Five out of six patients developed the clinical manifestations of CVST and SARS-CoV-2 infection simultaneously. Three patients had known predisposing factors for CVST. Despite receiving CVST and SARS-CoV-2 infection treatments, four out of six patients passed away.Conclusions: The role of SARS-CoV-2 as a “cause” versus an “additive contributor” remains to be elucidated. Practitioners should be aware of the possibility of CVST in SARS-CoV-2 infection.

sputum acid-fast bacilli were positive and anti-TB treatment was started. Her cerebrospinal fluid results were normal except for a positive nested polymerase chain reaction (PCR) for tuberculous. She responded to protocol for treatment of status epilepticus and anti-TBM treatment and her level of consciousness improved and she became fully aware

Introduction: Given the prevalence of obsessive-compulsive disorder(OCD), we investigated the association between the severity of OCD and Alzheimer's and frontotemporal dementia.Method: This case-control study included patients referred to the dementia clinic of Firoozgar Hospital and the Brain and Cognition Clinic, who had a Montreal Cognitive Assessment (MOCA) test score less than 26 based on assessments of known Alzheimer's or frontotemporal dementia. The control group also consisted of people who referred to the neurology clinic without complaining of psychiatric disorders. For evaluating the severity of OCD we used the Yale – Brown Obsessive Compulsive Scale (Y-BOCS) questionnaire. Results: This study was performed on 13 patients with Alzheimer's disease, 13 patients with FTD and 26 healthy controls. The MOCA score in the two groups of patients was significantly lower than the control group (P 0.05). The severity of OCD was significantly higher in FTD )25.76±7.16 (and Alzheimer's patients )18.15±9.50( compared to the control group (7.07±5.70) (P Conclusion: Thus, the severity of OCD in the group of FTD and Alzheimer's patients was higher compared to the control group and also the severity of OCD was higher in the FTD group compared to the Alzheimer's group.

Patients with Alzheimer's disease and mild cognitive impairment can employ serious games to assess and improve their cognitive status.To determine the cognitive aspects of the MMSE and ACE-R tests that are supported by available games.We searched cognitive games available in online application markets (Play Store, Galaxy Store, and App Store) using keywords: Alzheimer's Disease, dementia, and mild cognitive impairment. Game scenarios were extracted and assessed by a neurologist to determine the appropriateness of the scenarios for patients and cognitive aspects supported by the games.We found 416 games; 135 of them were duplicates, and 237 of them were completely irrelevant to the study objective. A neurologist evaluated the remaining scenarios to see if aspects of each scenario matched the MMSE and ACE- R tests. There were 37 scenarios left in the end. These scenarios are associated with 18 different games. Most of the available scenarios are suitable for attention and orientation.Existing cognitive games may be used to several different cognitive aspects. Some of these scenarios have been used to assess cognitive status, while others have been used to improve it. The majority of available cognitive games have not been subjected to any research. As a result, it is unclear what impact they could have on the cognitive condition of the elderly with cognitive impairment. As a result, it is critical to assess these games.

Frontotemporal dementia (FTD) is a common cause of early-onset dementia characterized by behavioral and personality changes, as well as, altered eating habits. FTD is associated with complex changes in neural networks of gustatory processing which may be responsible for eating abnormalities. Here, we present a 66-years-old lady suffered from behavioral variant of FTD with an interesting symptom of food aversion, typically sour foods.

Background: Multiple Sclerosis (MS) causes brain atrophy at the early stages of the disease which leads to progressive motor and cognitive dysfunction. Brain atrophy can be diagnosed indirectly by measuring the Third Ventricle Diameter (TVD) using Trans Cranial Sonography (TCS). The purpose of the current study was evaluation of TVD in MS patients using TCS to examine its possible correlation with cognitive dysfunction and Expanded Disability Status Scale (EDSS). Methods: Seventy-four patients with a definite diagnosis of MS were enrolled in this study. Transverse diameter of the third ventricle was measured using TCS. All patients were assessed by neurological examination and the level of disability was measured via EDSS. The cognitive performance was assessed by the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS). Pearson’s correlation was performed to evaluate possible correlations and p-value3 when compared to the group with EDSS score≤3 (p-value=0.0001). The mean BICAMS score was 0.65±0.57 and there was no statistical correlation between BICAMS score and TVD. Conclusion: Measuring the diameter of the third ventricle using TCS appears to be an appropriate method to diagnose brain atrophy and is associated with cognitive dysfunction in the process of MS. Our data emphasized no association between the diameter of the third ventricle and cognitive dysfunction.

BackgroundThe number of long-COVID is rising but it is not still clear which patients will develop long-covid and what will be the symptoms if they do.We followed up 95 patientswith confirmed COVID-19 after 9 months of the original study to delineate possible long COVID symptoms.MethodsThe original study included 201 patients who were treated in a large referral center from March to May 2020. Ninty percent of the patients reported physical or psychological symptoms within 9 months post-COVID.FindingsEasy fatigability was the most common 51.04 % long-COVID symptoms followed by anxiety 38.54 %, dyspnea 38.54 %, and new headache 38.54%. There was no association between COVID-19 severity in the acute phase (admission status) and the number of long-COVID symptoms (F(1, 93) = 0.75, p = 0.45 (n.s.)), chronic fatigue syndrome (CFS) (F(1,93) = -0.49, p = 0.62 (n.s.), MOCA scores (F(1, 90) = 0.073, p = 0.787 (n.s.)) in the future. Being female (F(1, 92) = -2.27, p = 0.02), having a higher number of symptoms in the acute phase(F(1,93) = 2.76, p = 0.0068),and experiencing constitutional neuropsychiatric symptoms(F(1, 93)= 2.529, p = 0.01) in the acute phase were associated with higher occurance of CFS in follow up. Moreover, constitutional neuropsychiatric symptoms in acute phase were associated with cognitive dificits (lower MOCA score) (F(1, 93) = 10.84, p= 0.001) in the follow up.ConclusionsSeverity of the acute disease does not seem to be related to long-COVID symptoms. However, specific clinical presentations might be predictors of distinct long-COVID symptoms. Constitutional neuropsychiatric symptoms in the acute phase are associated with important and debilitating chronic symptoms including chronic fatigue syndrome, and cognitive deficits. These results might pave the way for findingthe underlying mechanisms of long-COVID and provide additional insight into possible candidate treatments for COVID-19.

Background and Purpose: Stroke is reported as a consequence of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection in several reports. However, data are sparse regarding the details of these patients in a multinational and large scale. Methods: We conducted a multinational observational study on features of consecutive acute ischemic stroke, intracranial hemorrhage, and cerebral venous or sinus thrombosis among SARS-CoV-2–infected patients. We further investigated the risk of large vessel occlusion, stroke severity as measured by the National Institutes of Health Stroke Scale, and stroke subtype as measured by the TOAST (Trial of ORG 10172 in Acute Stroke Treatment) criteria among patients with acute ischemic stroke. In addition, we explored the neuroimaging findings, features of patients who were asymptomatic for SARS-CoV-2 infection at stroke onset, and the impact of geographic regions and countries’ health expenditure on outcomes. Results: Among the 136 tertiary centers of 32 countries who participated in this study, 71 centers from 17 countries had at least 1 eligible stroke patient. Of 432 patients included, 323 (74.8%) had acute ischemic stroke, 91 (21.1%) intracranial hemorrhage, and 18 (4.2%) cerebral venous or sinus thrombosis. A total of 183 (42.4%) patients were women, 104 (24.1%) patients were P =0.02) and higher rate of mechanical thrombectomy (12.4% versus 2%; P Conclusions: We observed a considerably higher rate of large vessel occlusions, a much lower rate of small vessel occlusion and lacunar infarction, and a considerable number of young stroke when compared with the population studies before the pandemic. The rate of mechanical thrombectomy was significantly lower in countries with lower health expenditures.

Several studies have reported clinical manifestations of the new coronavirus disease. However, few studies have systematically evaluated the neuropsychiatric complications of COVID-19. We reviewed the medical records of 201 patients with confirmed COVID-19 (52 outpatients and 149 inpatients) that were treated in a large referral center in Tehran, Iran from March 2019 to May 2020. We used clustering approach to categorize clinical symptoms. One hundred and fifty-one patients showed at least one neuropsychiatric symptom. Limb force reductions, headache followed by anosmia, hypogeusia were among the most common neuropsychiatric symptoms in COVID-19 patients. Hierarchical clustering analysis showed that neuropsychiatric symptoms group together in three distinct groups: anosmia and hypogeusia; dizziness, headache, and limb force reduction; photophobia, mental state change, hallucination, vision and speech problem, seizure, stroke, and balance disturbance. Three non-neuropsychiatric cluster of symptoms included diarrhea and nausea; cough and dyspnea; and fever and weakness. Neuropsychiatric presentations are very prevalent and heterogeneous in patients with coronavirus 2 infection and these heterogeneous presentations may be originating from different underlying mechanisms. Anosmia and hypogeusia seem to be distinct from more general constitutional-like and more specific neuropsychiatric symptoms. Skeletal muscular manifestations might be a constitutional or a neuropsychiatric symptom.

Transcranial sonography (TCS) is increasingly used for the diagnosis of neurodegenerative disorders. We assessed the role of third ventricle width (TVW), midbrain area (MA), and midbrain circumference (MC) by TCS for diagnosis and differentiation of dementia. A cross-sectional study was designed in 59 patients with dementia including 19 patients with Alzheimer’s disease (AD), 10 Dementia with Lewy bodies (DLB), 23 Frontotemporal dementia (FTD) and 7 Vascular dementia (VaD), and 22 normal-cognition individuals. Both case and control groups were matched by age, sex, and educational level. The dementia patients were divided into two subgroups: cortical-dominant dementia (CDD) including AD and FTD; and subcortical-dominant dementia (SDD) including DLB and VaD. TCS was performed through a temporal window, in which the size of TVW and midbrain was measured by trans-thalamic and trans-mesencephalic planes, respectively. The mean TVW was 0.85 ± 0.3 cm and 0.66 ± 0.2 cm in dementia patients and the control group, respectively (p

Ehlers-Danlos syndrome (EDS) is a rare congenital disorder of connective tissues which involves skin and musculoscleletalsystem. There are also some reports for involvement of central and peripheral nervous system. We want to present a very rare co-association of EDS, spondylolisthesis and Agenesis of the corpus callosum in an Iranian lady.