CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the degeneration of motor neurons. Although repeat expansion in C9orf72 is its most common cause, the pathogenesis of ALS isn't fully clear. In this study, we show that repeat expansion in LRP12, a causative variant of oculopharyngodistal myopathy type 1 (OPDM1), is a cause of ALS. We identify CGG repeat expansion in LRP12 in five families and two simplex individuals. These ALS individuals (LRP12-ALS) have 61-100 repeats, which contrasts with most OPDM individuals with repeat expansion in LRP12 (LRP12-OPDM), who have 100-200 repeats. Phosphorylated TDP-43 is present in the cytoplasm of iPS cell-derived motor neurons (iPSMNs) in LRP12-ALS, a finding that reproduces the pathological hallmark of ALS. RNA foci are more prominent in muscle and iPSMNs in LRP12-ALS than in LRP12-OPDM. Muscleblind-like 1 aggregates are observed only in OPDM muscle. In conclusion, CGG repeat expansions in LRP12 cause ALS and OPDM, depending on the length of the repeat. Our findings provide insight into the repeat length-dependent switching of phenotypes.

Progressive multifocal leukoencephalopathy associated with systemic lupus erythematosus: longitudinal observation of lymphocytes, JC virus in cerebrospinal fluid, and brain magnetic resonance imaging.

Progressive multifocal leukoencephalopathy (PML) rarely occurs in patients with systemic lupus erythematosus (SLE). This report presents the case of a patient who developed PML due to SLE-associated multiple factors. A 60-year-old woman diagnosed with SLE undergoing multiple immunosuppressive therapies, including azathioprine, presented with cerebral cortical symptoms, lymphocytopenia, and vitamin B12 deficiency and was subsequently diagnosed with SLE-associated PML. We evaluated the cause and disease activity of PML, focusing on the longitudinal assessment of lymphocytopenia, JC virus (JCV) DNA copy number in the cerebrospinal fluid, and magnetic resonance imaging (MRI) findings. Discontinuing azathioprine and initiating alternative immunosuppressive treatments with intramuscular vitamin B12 injections affected lymphocytopenia and disease management. However, despite recovery from lymphopenia and JCV DNA copy number being low, the large hyperintense and punctate lesions observed on the fluid-attenuated inversion recovery (FLAIR) images exhibited varying behaviors, indicating that the balance between contributing factors for PML may have fluctuated after the initial treatment. Clinicians should be meticulous when assessing the underlying pathology of the multifactorial causes of PML due to SLE. The difference in the transition pattern of these lesions on FLAIR images may be one of the characteristics of MRI findings in PML associated with SLE, reflecting fluctuations in disease activity and the progression stage of PML.

Association between motor symptoms of Parkinson's disease and swallowing disorders.

BACKGROUND: Parkinson's disease (PD) presents with motor symptoms that hinder physical activity. This study aimed to thoroughly investigate swallowing dysfunction in patients with PD using videofluoroscopy (VF) and the Movement Disorder Society (MDS)-Unified PD Rating Scale (UPDRS) sub-scores. METHODS: This study was part of an intervention project to evaluate the effectiveness of cervical percutaneous interferential current stimulation in patients with Hoehn and Yahr stages 2-4 PD. Baseline data, including swallowing-related indicators such as VF, were obtained and compared to the MDS-UPDRS sub-scores including rigidity, tremor, postural instability/gait difficulty, and limb scores. RESULTS: Twenty-seven patients were included in this study. In the VF analysis, laryngeal penetration/aspiration, oral cavity residue, epiglottic vallecular residue, and pharyngeal residue were observed with remarkable frequency. The multivariate analysis revealed that the mean rigidity score of UPDRS was an independent and significantly correlated factor with laryngeal penetration/aspiration during the ingestion of 10 mL of water (odds ratio 1.294, 95% confidence interval 1.035-1.617; p = 0.024). CONCLUSION: This study revealed a correlation between muscle rigidity and laryngeal penetration or aspiration risk. The detailed comparative analysis of various individual PD symptoms and swallowing disorders was substantial, which enabled early detection of the risk of swallowing disorder and the implementation of appropriate measures. TRIAL REGISTRATION NUMBER: jRCTs062220013.

Analysis of the suprahyoid muscles during tongue elevation: High-density surface electromyography as a novel tool for swallowing-related muscle assessment.

BACKGROUND: High-density surface electromyography (HD-sEMG) has enabled non-invasive analysis of motor unit (MU) activity and recruitment, but its application to swallowing-related muscles is limited. OBJECTIVE: We aimed to investigate the utility of HD-sEMG for quantitatively evaluating the MU recruitment characteristics of the suprahyoid muscles during tongue elevation. METHODS: We measured the sEMG activity of the suprahyoid muscles of healthy participants during tongue elevation using HD-sEMG. Maximum voluntary contraction (MVC) was measured, followed by data collection during sustained and ramp-up tasks to capture suprahyoid muscle activity. Changes in the temporal/spatial MU recruitment patterns within individual suprahyoid muscles were analysed. RESULTS: This study enrolled 16 healthy young adults (mean age: 27.8 ± 5.3 years; eight males and eight females). Increasing muscle force corresponded to a decrease in modified entropy and correlation coefficient and an increase in the coefficient of variation. No significant differences were observed between male and female participants. CONCLUSION: The results of this study, consistent with those observed in other muscles, such as the vastus lateralis muscle, suggest that HD-sEMG is a valuable and reliable tool for quantitatively evaluating MU recruitment in the suprahyoid muscles. This measurement technique holds promise for novel assessments of swallowing function.

Apolipoprotein E genotype-dependent accumulation of amyloid ß in APP-knock-in mouse model of Alzheimer's disease.

Apolipoprotein E4 (APOE4), the strongest risk factor for late-onset Alzheimer's disease (AD), has been revealed to cause greater accumulation of extracellular amyloid ß (Aß) aggregates than does APOE3 in traditional transgenic mouse models of AD. However, concerns that the overexpression paradigm might have affected the phenotype remain. Amyloid precursor protein (APP)-knock-in (KI) mice, incorporating APP mutations associated with AD development, offer an alternative approach for overproducing pathogenic Aß without needing overexpression of APP. Here, we present the results of comprehensive analyses of pathological and biochemical traits in the brains of APP-KI mice harboring APP-associated familial AD mutations (APPNL-G-F/NL-G-F mice) crossed with human APOE-KI mice. Immunohistochemical and biochemical analyses revealed the APOE genotype-dependent increase in Aß pathology and glial activation, which was evident within 8 months in the mouse model. These results suggested that this mouse model may be valuable for investigating APOE pathobiology within a reasonable experimental time frame. Thus, this model can be considered in investigating the interaction between APOE and Aß in vivo, which may not be addressed appropriately by using other transgenic mouse models.

Paradoxical effects of levetiracetam in people with epilepsy with rhythmic epileptiform discharges.

OBJECTIVE: To elucidate the incidence and risk factors for paradoxical effects (i.e., increased seizure frequency, increased seizure severity, or onset of new seizure types) of levetiracetam (LEV) in people with epilepsy (PWE) and identify the usefulness of electroencephalography (EEG) in predicting these effects. METHODS: We examined data for consecutive PWE treated with LEV. All PWE underwent EEG and magnetic resonance imaging (MRI) before LEV administration. We also evaluated the incidence of paradoxical LEV effects and conducted multivariate logistic regression analyses to identify the associated factors. RESULTS: In total, 210 (66.2%) of 317 PWEs treated in our department had a history of LEV use. The incidence of paradoxical LEV effects was 5.2% (n = 11) and was significantly associated with a high LEV dose (p = 0.029), high seizure frequency (p = 0.005), temporal lobe epilepsy (p = 0.004), focal awareness seizure (p = 0.004), focal impaired awareness seizure (p = 0.007), spike (p = 0.015), rhythmic epileptiform discharges (REDs; p = 0.003), and MRI-identified focal cortical dysplasia (FCD; p < 0.0001). Multivariate analyses revealed that REDs (odds ratio [OR] = 5.35, p = 0.048, 95% confidence interval [CI]: 1.01-28.21) were independently associated with paradoxical LEV effects. CONCLUSIONS: Paradoxical LEV effects occurred in PWE, particularly in those with drug-resistant focal epilepsy. Furthermore, the occurrence of REDs in EEG was an independent factor associated with the paradoxical effects of LEV in PWE.

Immediate and 6-month seizure outcomes following first and second SARS-CoV2 mRNA vaccinations: A multicenter study with a nationwide survey.

OBJECTIVE: This study aimed to identify seizure outcomes in people with epilepsy (PWE) following severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) messenger RNA vaccination. METHODS: We examined PWE (n = 332, age ≥ 14 years) treated in four tertiary hospitals between 2021 and 2022 to assess the incidence of seizure worsening following vaccination using closed questions. We identified the clinical factors associated with worsening and 6-month vaccination outcomes. We also conducted a nationwide survey on self-reported seizure worsening using open questions, to which 261 general practitioners from 99 institutes contributed. RESULTS: Of the 282 PWE vaccinated in the four hospitals, 16 (5.7%) exhibited seizure worsening; most of them emerged within 48 h of vaccination and were not sustained. Thus, all PWE were at baseline condition 6 months after their vaccination. PWE with seizure worsening were more significantly associated with focal impaired awareness seizures (p < 0.001), high seizure frequency (p = 0.025), and drug-resistant epilepsy (p = 0.007) at baseline compared to PWE without worsening. Multivariate logistic regression analysis revealed that focal impaired awareness seizures were independently associated with worsening (odds ratio, 7.0; 95% confidence interval, 1.50-32.77). A nationwide survey of 5156 PWE data (real-world data) confirmed an extremely low incidence rate of self-reported seizure worsening (0.43%). SIGNIFICANCE: Some PWE, particularly refractory focal epilepsy, exhibit seizure worsening. However, the worsening events were infrequent, non-sustainable, and probably under-reported by PWE, suggesting that there is little evidence that worsening seizures discourage current and future vaccinations.

Progressive Multifocal Leukoencephalopathy in Relapsed Ph+ Acute Lymphoblastic Leukemia after Cord Blood Transplantation and Blinatumomab Treatment: A Case Report and Literature Review.

Progressive multifocal leukoencephalopathy (PML) is a rare neurological disease caused by the reactivation of latent John Cunningham polyomavirus. Hematological disorders associated with immunomodulatory monoclonal antibodies and hematopoietic stem cell transplantation (HSCT) are risk factors for PML. Blinatumomab is a novel antileukemic immunomodulatory agent and more effective for relapsed and refractory acute lymphoblastic leukemia (ALL) than conventional chemotherapy. But, blinatumomab suppresses humoral immunity due to long-lasting B-cell depletion during and after the treatment. The development of PML involves cellular immunity and impairment of humoral immunity. Although few cases of blinatumomab-related PML have been reported, the use of blinatumomab after allogeneic HSCT may increase the risk of developing PML. The current case report presents a patient of Philadelphia chromosome-positive ALL wherein PML developed after cord blood stem cell transplantation and administrating blinatumomab.

Assessment of Serum IgG Titers to Various Periodontal Pathogens Associated with Atrial Fibrillation in Acute Stroke Patients.

OBJECTIVES: There is accumulating evidence that periodontal disease is associated with atrial fibrillation (AF) or stroke, but it is unclear which causative species of periodontal disease are present in stroke patients with AF. We aimed to investigate the associations between AF and specific periodontal pathogens using serum titers of IgG antibodies of bacteria in acute stroke patients. MATERIALS AND METHODS: Acute stroke patients were registered at two hospitals. Serum samples were evaluated for titers of antibodies against 9 periodontal pathogens (16 genotypes) using ELISAs. We identified AF in patients according to the following criteria: (1) a history of sustained or paroxysmal AF or (2) AF detection upon arrival or during admission. We carried out propensity score matching to categorize the patients as those with AF and those without. RESULTS: Of the 664 acute stroke patients, 123 (18.5%) had AF. After propensity score matching, 234 patients were selected. Patients with AF had a higher prevalence of positive serum titers of antibodies against Porphyromonas gingivalis (FimA type III) and Porphyromonas gingivalis (FimA type V) than those without AF (59.0% vs. 39.3%, p=0.004 and 58.2% vs. 40.2%, p=0.009, respectively). CONCLUSIONS: Porphyromonas gingivalis, especially FimA type III and type V, might be associated with AF in stroke patients.

Diffusion-Weighted Imaging Hyperintensities in Acute and Subacute-Phase Intracerebral Hemorrhage.

OBJECTIVE: Diffusion-weighted imaging hyperintensities are observed in intracerebral hemorrhage patients at times and might be associated with unfavorable functional outcomes. However, the suitable time to evaluate diffusion-weighted imaging hyperintensities to influence stroke outcome remains unclear. This study investigated the associations between acute and sub-acute diffusion-weighted imaging hyperintensities and functional outcomes among patients with acute intracerebral hemorrhage. METHODS: Diffusion-weighted imaging hyperintensities were evaluated within 24 h (acute phase) and at 14 ± 5 days (sub-acute phase). An unfavorable functional outcome was a score of 5-6 on the modified Rankin Scale at 3 months. RESULTS: Among 268 intracerebral hemorrhage patients, diffusion-weighted imaging hyperintensities in the acute phase were observed in 32 (11.9%). Among 227 patients who underwent a second magnetic resonance imaging in the sub-acute phase, diffusion-weighted imaging hyperintensities were observed in 57 (25.1%). Multivariable analysis revealed that the baseline intracerebral hemorrhage volume, history of stroke, and severe white matter lesions were associated with sub-acute diffusion-weighted imaging hyperintensities. The patients with unfavorable outcomes (n = 37) had a higher frequency of sub-acute diffusion-weighted imaging hyperintensities than those without (n = 190) (51.4% vs. 20.0%, P < 0.001); the frequencies of acute diffusion-weighted imaging hyperintensities were not significantly different between the groups (13.5% vs. 10.0%, P = 0.559). Sub-acute diffusion-weighted imaging hyperintensities were independently associated with unfavorable outcomes after adjusting for confounding factors (Odds Ratio, 3.35, 95% CI 1.20-9.35, P = 0.021). CONCLUSION: The rate of sub-acute diffusion-weighted imaging hyperintensities was higher than acute diffusion-weighted imaging hyperintensities among acute intracerebral hemorrhage patients and likely to be associated with unfavorable outcomes.

Impact of anatomical variations on ultrasonographic reference values of lower extremity peripheral nerves.

INTRODUCTION/AIMS: Cross-sectional area (CSA) reference values using ultrasonography vary widely for lower extremity peripheral nerves. In addition, there is a lack of data on the muscular branches of the tibial nerve and the anatomical variations of the sural nerve. We aimed to evaluate the ultrasonographic reference values for lower extremity peripheral nerves considering different anatomical variations and physical factors. METHODS: The CSA of the lower extremity nerve was measured at 10 sites. In addition to establishing reference values, differences in the CSA owing to anatomical variations were verified. The relationship between CSA and physical factors, such as age, height, weight, body mass index, and ankle circumference, was also examined. RESULTS: A total of 100 healthy Japanese volunteers were recruited. The mean CSA of the sural nerve significantly differed depending on its formation pattern (1.4-1.8 mm2 ). The mean decreases in CSAs from the proximal to distal tibial and fibular nerves within the popliteal region significantly differed based on the fine branching pattern. The maximum value of the mean decreases in CSAs in the tibial and fibular nerves reached 7.2 and 2.5 mm2 , respectively. With respect to physical factors, age and ankle circumferences were associated with CSA at several measurement sites. DISCUSSION: Fine branching from the tibial and fibular nerves and sural nerve formation may affect CSA measurements. The establishment of accurate CSA reference values requires consideration of anatomical variations in the peripheral nerves of the lower extremity.

cnm-Positive Streptococcus mutans and diffusion-weighted imaging hyperintensities in acute intracerebral hemorrhage.

BACKGROUND: Strains of Streptococcus mutans expressing the cell surface collagen-binding protein, Cnm, encoded by cnm (cnm-positive S. mutans), are associated with hypertensive intracerebral hemorrhage (ICH) and the occurrence of cerebral microbleeds (CMBs). Small diffusion-weighted imaging (DWI) hyperintensities in patients with acute ICH are also associated with CMBs. However, the association between cnm-positive S. mutans and DWI hyperintensities is unclear. Hence, this study aimed to investigate the association between cnm-positive S. mutans and DWI hyperintensities in patients with acute ICH. METHODS: Patients with acute ICH were prospectively registered at three hospitals. Dental plaque specimens were collected within 4 days after admission, and cnm-positive S. mutans was detected using the polymerase chain reaction. Magnetic resonance imaging at 14 ± 5 days after admission was used to evaluate DWI hyperintensities and CMBs. RESULTS: A total of 197 patients were enrolled in this study. cnm-positive S. mutans was detected in 30 patients (15.2%), and DWI hyperintensities were observed in 56 patients (28.4%). Patients with cnm-positive S. mutans had a higher frequency of DWI hyperintensities (50.0% vs 24.6%; p = 0.008) and a higher number of CMBs (5.5 vs 1.5; p < 0.001) than those without cnm-positive S. mutans. Multivariable logistic analysis revealed that the presence of cnm-positive S. mutans was independently associated with DWI hyperintensities (OR 2.38; 95% CI 1.01-5.61; p = 0.047) after adjusting for several confounding factors. CONCLUSION: This study found an association between the presence of cnm-positive S. mutans and DWI hyperintensities in patients with acute ICH.

Characteristics and Prognostic Factors of Swallowing Dysfunction in Patients with Lateral Medullary Infarction.

OBJECTIVES: Lateral medullary infarction mainly impairs the pharyngeal phase of swallowing. We aimed to investigate the utility of the assessment tools of swallowing function in patients with lateral medullary infarction and to determine the factors that could predict the outcomes of swallowing function. MATERIALS AND METHODS: 15 patients with lateral medullary infarction who were admitted to Suiseikai Kajikawa Hospital between August 1, 2016, and March 31, 2020 (age 62.7 ± 14.8 years, 5 women) were enrolled in this prospective study. The diagnosis was made using brain magnetic resonance imaging. We analyzed the factors associated with severe swallowing dysfunction, which was defined as the necessity for tube feeding on the 90th day from admission, with multiple logistic regression analysis. RESULTS: Multivariate analyses identified the repetitive saliva swallowing test, modified water swallowing test, and vertical spread of stroke lesions as independent significant factors affecting severe swallowing dysfunction (p = 0.002, 0.016, and 0.011, respectively). The sub-scores of the pharyngeal phase of the Mann Assessment of Swallowing Ability were also significantly associated with severe swallowing dysfunction (p < 0.001). However, tongue pressure, severe passage pattern abnormality on videofluoroscopic examination, and vertebral artery dissection were not significantly associated with swallowing dysfunction. CONCLUSIONS: Since lateral medullary infarction presents with swallowing dysfunction mainly in the pharyngeal phase, tools that can be used to evaluate the pharyngeal phase of swallowing, such as repetitive saliva swallowing test and modified water swallowing test, are moreuseful than tongue pressure measurement.

Utility of Magnetic Resonance Spectroscopy for the Progression of Neurological Symptoms in Lenticulostriate Artery Territory Infarction.

OBJECTIVES: The present study aimed to examine the effectiveness of proton magnetic resonance spectroscopy (1HMRS) in determining the progression of neurological symptoms resulting in acute ischemic stroke in patients with lenticulostriate artery (LSA) infarction. MATERIALS AND METHODS: 1HMRS was performed within 72 h after neurological symptom onset. Voxel of interest was placed in tissue that included the pyramidal tract and identified diffusion weighted echo planar spin-echo sequence (DWI) coronal images. Infarct volume in DWI was calculated using the ABC/2 method. 1HMRS data (tNAA, tCr, Glx, tCho, and Ins) were analyzed using LCModel. Progressive neurological symptoms were defined as an increase of 1 or more in the NIHSS score. Patients who underwent 1HMRS after progressive neurological symptoms were excluded. RESULTS: In total, 77 patients were enrolled. Of these, 19 patients had progressive neurological symptoms. The patients with progressive neurological symptoms were significantly more likely to be female and had higher tCho/tCr values, higher rates of axial slices ≥ 3 slices on DWI, higher infarct volume on DWI, higher maximum diameter of infarction of axial slice on DWI, and higher SBP on admission compared to those without. Multivariable logistic analysis revealed that higher tCho/tCr values were independently associated with progressive neurological symptoms after adjusting for age, sex, and initial DWI infarct volume (tCho/tCr per 0.01 increase, OR 1.26, 95% CI 1.03-1.52, P = 0.022). CONCLUSIONS: Increased tCho/tCr score were associated with progressive neurological symptoms in patients with LSA ischemic stroke. Quantitative evaluation of 1HMRS parameters may be useful for predicting the progression of neurological symptoms.

Prediction of Independent Gait in Acute Stroke Patients with Hemiplegia Using the Ability for Basic Movement Scale II Score.

INTRODUCTION: Since independent gait is an important factor for home discharge, early prediction of independent gait after stroke is essential. The revised version of the Ability for Basic Movement Scale II (ABMS II) has been developed and validated for assessment of basic movements poststroke. OBJECTIVE: The purpose of this study was to investigate the predictive value of the ABMS II score for independent gait in acute stroke patients with hemiplegia. METHODS: We included 67 patients with first stroke and a unilateral lesion who were admitted to the stroke care unit. We evaluated the gait on the 14th and 90th days from admission. RESULTS: The ABMS II score was significantly higher in patients with independent gait on both the 14th and 90th days from admission. On receiver operating characteristic curve analysis, a minimum score of 26 points was predictive of independent gait on the 14th day from admission. Similarly, a score of 15 points was predictive of independent gait on the 90th day from admission. CONCLUSIONS: The ABMS II score is a useful predictor of independent gait in acute stroke patients with hemiplegia.

Delayed Swallowing Reflex is Overlooked in Swallowing Screening Among Acute Stroke Patients.

BACKGROUND AND PURPOSE: Dysphagia in the acute phase of stroke contributes significantly to poor outcomes and is associated with the development of aspiration pneumonia and malnutrition. Therefore, an accurate evaluation of swallowing is necessary before initiating oral food intake. The modified water swallow test (MWST) and the repetitive saliva swallow test (RSST) are commonly used as bedside screening methods for swallowing dysfunction, but it is unclear whether other factors contribute to dysphagia and consequent aspiration. The purpose of this study was to identify characteristics that might be overlooked in screening tests. METHODS: Participants were prospectively selected from patients hospitalized for stroke at the Suiseikai Kajikawa Hospital between August 1, 2016 and June 30, 2018. Inclusion criteria were conscious and stable medical condition, and patients who were diagnosed with dementia were excluded. A videofluoroscopic (VF) swallowing study was carried out on all patients who met the inclusion/exclusion criteria and who passed both the MWST and the RSST. RESULTS: Aspiration was observed in 16 of 172 patients (9.3%) when swallowing 3 ml of water. These aspirated patients showed significantly delayed swallowing reflex on VF. CONCLUSIONS: Swallowing evaluation using a combination of the MWST and the RSST is reasonably effective. However, patients who show a delayed swallowing reflex might be overlooked by this screening procedure.

Utility of Minimum Apparent Diffusion Coefficient Ratios in Alberta Stroke Program Early CT Score Regions for Deciding on Stroke Therapy.

BACKGROUND AND PURPOSE: Therapeutic indications for recombinant tissue plasminogen activator therapy and endovascular therapy need to be assessed for patients with hyperacute ischemic stroke. We investigated the relationship between the minimum apparent diffusion coefficient ratios in each Alberta Stroke Program Early CT Score region and reversible lesion in patients with hyperacute ischemic stroke receiving recombinant tissue plasminogen activator therapy and/or treated with endovascular therapy. MATERIALS AND METHODS: We retrospectively evaluated 29 patients with first ischemic stroke due to stenosis/occlusion of the internal carotid artery or horizontal portion of the middle cerebral artery that was successfully recanalized by recombinant tissue plasminogen activator therapy and/or treated with endovascular therapy. We measured the minimum apparent diffusion coefficient value in each Alberta Stroke Program Early CT Score region (11 regions) and calculated the ratio. RESULTS: There was a significant difference in minimum apparent diffusion coefficient ratios between regions that included and did not include infarction (P < .0001), which were distinguishable with a cutoff value of .808 (area under the curve = .80, P < .001). A statistical difference in the proportion of infarction with the cutoff value was observed between patients treated with endovascular therapy and receiving recombinant tissue plasminogen activator therapy alone (9.9% versus 24.6%, P = .0041) and between patients with affected middle cerebral and internal carotid arteries (7.0% versus 24.2%, P = .0002). The lowest apparent diffusion coefficient ratio was associated with the time to recombinant tissue plasminogen activator injection. CONCLUSIONS: Minimum apparent diffusion coefficient ratios in Alberta Stroke Program Early CT Score regions are useful in predicting therapeutic effect.

Subarachnoid hemorrhage after transient global amnesia caused by cerebral venous congestion: case report.

BACKGROUND: Transient global amnesia is reported to be caused by cerebral venous congestion. Internal jugular venous flow reversal in particular with the Valsalva maneuver leads to cerebral venous congestion. In addition, Valsalva maneuver can also induce subarachnoid hemorrhage. Transient global amnesia and subarachnoid hemorrhage might have common a pathophysiology in cerebral venous congestion. CASE PRESENTATION: We report here the case of a 57-year-old woman who twice experienced convexal subarachnoid hemorrhage just after straining at stool following an episode of transient global amnesia. Digital subtraction angiography showed left temporal congestion. Left jugular vein ultrasonography revealed reflux with the Valsalva maneuver only in acute phase, indicating transient cerebral venous congestion. CONCLUSIONS: Subarachnoid hemorrhage followed by transient global amnesia indicates a common factor between them. Transient venous congestion is discussed in order to explain this rare phenomenon.

Blood Pressure Variability in Acute Ischemic Stroke: Influence of Infarct Location in the Insular Cortex.

BACKGROUND: The aim of this study was to elucidate the influence of insular infarction on blood pressure (BP) variability and outcomes according to the region of the insular cortex affected. METHODS: A total of 90 patients diagnosed with acute unilateral ischemic stroke were registered. The BP variability was calculated over 24 h after admission (hyperacute) and for 2-3 days after admission (acute). Patients were classified into groups of right and left, and then right anterior, right posterior, left anterior, and left posterior insular infarction. RESULTS: Patients with insular infarction showed a significantly larger infarct volume, higher modified Rankin scale scores, and lower SD and coefficient of variation (CV) of -systolic BP in the hyperacute phase than shown by patients without insular infarction (p < 0.01, p < 0.01, p = 0.02, and p = 0.03, respectively). The SD and CV of systolic BP in the hyperacute phase showed significant differences among the 3 groups with right insular infarction, with left insular infarction, and without insular infarction (p < 0.05 and p < 0.05, respectively). There was a tendency for the systolic BP variability to be lower in patients with right anterior insular infarction than in patients with infarcts in other areas. CONCLUSION: The right insular cortex, especially the anterior part, might be a hub for autonomic nervous regulation.

Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring α-Galactosidase A and Globotriaosylsphingosine.

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in GLA, which encodes the enzyme α-galactosidase A (α-Gal A). Although the prevalence of Fabry disease in patients with stroke has been reported to range from 0% to 4%, few cohort studies have examined Japanese stroke patients. We aimed to clarify the prevalence of Fabry disease and the frequency of GLA mutations among patients with young-onset stroke in Japan. METHODS: From April 2015 to December 2016, we enrolled patients with young-onset (≤60 years old) ischemic stroke or intracerebral hemorrhage. We measured α-Gal A activity and the concentration of globotriaosylsphingosine in plasma. Genetic evaluations were performed in patients with low α-Gal A activity or high concentrations of globotriaosylsphingosine. RESULTS: Overall, 516 patients (median age of onset, 52 years old; 120 women) were consecutively enrolled in this study. Five patients (4 men and 1 woman) had low α-Gal A activity, and no patients were detected with the screen for plasma globotriaosylsphingosine levels. The genetic analysis did not identify a causative mutation responsible for classic Fabry disease in any of the patients, but 2 patients (.4%) carried the p.E66Q in GLA. CONCLUSIONS: No patient with Fabry disease was detected in our young-onset stroke cohort.