Publications by authors named "Hikaru Nagasawa"
A novel loss-of-function variant associated with ALS and parkinsonism phenotypes.
Amyotroph Lateral Scler Frontotemporal Degener
November 2024
Article Synopsis
- - The study investigates a novel variant in the TANK binding kinase 1 (TBK1) gene, linked to familial cases of amyotrophic lateral sclerosis (ALS) and parkinsonism in two siblings.
- - One sibling had classical ALS, while the other exhibited symptoms of a unique syndrome combining ALS and parkinsonism, supported by thorough clinical evaluations.
- - Genetic analysis identified an unknown splice site variant causing abnormal TBK1 splicing and degradation, highlighting the gene's significance in neurodegenerative diseases and the importance of further research and screening for similar variants.
Article Synopsis
- A 61-year-old Japanese man experienced cerebral venous sinus thrombosis (CVST) after receiving the BNT162b2 mRNA COVID-19 vaccine, developing a headache 10 days post-vaccination.
- Medical imaging confirmed thrombosis in the superior sagittal sinus and the right transverse sinus, leading to treatment with anticoagulants including intravenous heparin and oral warfarin.
- The patient's headache improved, the thrombus resolved by day 22, and he was discharged without neurological issues, with the case discussed in relation to existing medical literature.
Article Synopsis
- Perivascular spaces, typically normal and asymptomatic, can become enlarged and symptomatic in rare cases, potentially leading to cognitive impairment.
- A case study of a 68-year-old Japanese woman revealed significant memory loss and cognitive issues linked to unusually large perivascular spaces observed in brain imaging.
- Brain scans showed both enlarged perivascular spaces and reduced blood flow in key areas, suggesting that these changes were responsible for her cognitive decline, highlighting the importance of recognizing this condition in clinical practice.
Human color processing includes perception, naming, and knowledge of colors. These facets are dissociable from each other and appear to have discrete neuronal bases. Here, we present two cases with loss of object color knowledge but spared color perception and knowledge of object other than color.
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- Dermatomyositis is a rare immune-related condition linked to immune checkpoint inhibitors, like atezolizumab, used for cancer treatment.
- A 75-year-old man with small-cell lung cancer developed skin rashes and muscle weakness after his first dose of atezolizumab.
- His symptoms improved with corticosteroid treatment, marking the first known case of dermatomyositis associated with atezolizumab, highlighting the importance for doctors to monitor this potential side effect.
Spinal cord infarction (SCI) is rare, difficult to diagnose, and often fails to be detected by diffusion-weighted imaging (DWI) of spinal cord magnetic resonance imaging (MRI). Because the clinical features of SCI can vary widely, diagnosis during the acute phase of SCI is often challenging for clinicians. Although SCI shares similar etiologies with cerebral infarction, the characteristics of SCI without vessel dissection remain largely unknown.
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- * Imaging revealed that the man's right internal carotid artery had shifted to a retropharyngeal position, causing 50% stenosis and compression by surrounding structures during swallowing.
- * After a successful surgery to partially remove the hyoid bone and thyroid cartilage, the case highlights the effectiveness of dynamic 3D-CT angiography in diagnosing issues related to vascular compression from these anatomical structures.
Article Synopsis
- Immune checkpoint inhibitors, like atezolizumab, are important therapies for certain tumors but can cause autoimmune side effects, including rare cases of encephalitis.
- A 56-year-old man with lung cancer developed encephalitis 17 days after starting atezolizumab, presenting with high fever and neurological symptoms; tests showed high interleukin 6 levels indicating inflammation.
- Prompt treatment with steroid pulse therapy led to significant improvement, and the patient was discharged without lasting neurological issues, highlighting the need for awareness of such side effects in clinical practice.
Topographical disorientation (TD) in novel environments is considered to be a part of anterograde amnesia. A 56-year-old woman presented with pure TD only in novel environments following limbic encephalitis. She could not remember directions inside the hospital on weekly outpatient visits; however, her verbal and visual anterograde memories were normal.
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- Two patients experienced temporary lesions in a specific brain area (splenium of the corpus callosum) due to acute ischemic stroke.
- MRI scans 1-2 weeks post-stroke revealed isolated hyperintense lesions, but the patients showed no related symptoms.
- The lesions cleared up on follow-up MRIs about a week later, highlighting the need for clinicians to recognize these transient lesions to avoid misdiagnoses and unnecessary treatments.
We investigated 17 adult cases (14 males and 3 females) of myalgia induced by human parechovirus type 3 (HPeV3) infection, treated during the summers of 2008, 2011, 2014, and 2016. The patients were aged between 21 and 50 years. The limbs and trunk of all patients were affected, and severe myalgia, muscle weakness, and decreased grip strength were observed.
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- Recent research indicates that ambulatory heart rate (HR) affects cardiovascular events and mortality, prompting a study on its impact on cerebral small-vessel disease (SVD) and cognitive decline in older adults.* -
- A cohort of 190 elderly participants underwent blood pressure monitoring, brain MRI, and cognitive testing, revealing that higher nighttime HR variability is significantly linked to SVD progression while also showing independent associations with cognitive decline during the day.* -
- The study found that nocturnal HR dipping decreased in individuals with higher nighttime HR variability, highlighting increased nighttime HR variability as a potential predictor for SVD progression in elderly individuals.*
Article Synopsis
- A 59-year-old man with a history of lung cancer experienced sudden weakness in his left foot and was found to have multiple cerebral infarctions following imaging studies.
- He received treatment with aspirin and heparin; however, he developed shortness of breath and imaging revealed significant fluid accumulation around the heart and lungs.
- After draining the fluid, it was discovered that cancer cells had infiltrated the pericardium, leading to a diagnosis of anterior cerebral artery dissection as the cause of his symptoms and highlighting the risk of cardiac tamponade post-cerebral infarction treatment.
Article Synopsis
- Recent studies indicate a link between variability in 24-hour ambulatory blood pressure (ABP) and the progression of small vessel disease (SVD) and cognitive decline in older adults.
- The study involved 210 participants who underwent ABP monitoring, brain MRI, and cognitive tests initially and after four years, measuring various ABP variability metrics.
- Findings revealed that greater systolic and diastolic blood pressure variability significantly predicted SVD progression and cognitive decline, especially in those with existing SVD, highlighting the importance of monitoring ABP variability in the elderly.
Article Synopsis
- A study from Yamagata, Japan investigates the connection between human parechovirus type 3 (HPeV3), which is usually linked to infections in children, and instances of epidemic myalgia in adults.
- In summer 2011, researchers analyzed specimens from children with infections and adults with myalgia, finding HPeV3 present in both groups and confirming that certain strains were prevalent in both years.
- The results indicate that HPeV3 can be transmitted from infection-prone children to their parents, suggesting that awareness and clinical attention to HPeV3 should extend to adults during community outbreaks.
Bow hunter's syndrome after contralateral vertebral artery dissection.
J Stroke Cerebrovasc Dis
November 2012
Article Synopsis
- Bow hunter's syndrome is a condition that leads to temporary blood flow issues in the brain when the neck is turned, caused by various factors like bone spurs or trauma.
- A patient experienced left neck pain that was diagnosed as a left vertebral artery dissection, leading to faintness during left neck rotation.
- Imaging showed that the right vertebral artery was fine in neutral position but had significant blockage when the head was turned, confirming the diagnosis of bow hunter's syndrome due to complications from the contralateral artery dissection.
Article Synopsis
- Conventional transsurface carotid ultrasonography (TSCU) often fails to detect extracranial internal carotid artery (ICA) dissection, prompting the examination of transoral carotid ultrasonography (TOCU) for improved detection.
- A study reviewed eight patients with ICA dissection, identified via digital subtraction angiography (DSA), comparing findings between TOCU and TSCU; TOCU successfully revealed clear signs of dissection in all cases, while TSCU did not provide conclusive results.
- TOCU demonstrated significant advantages for accurate diagnosis and monitoring of ICA dissection, highlighted by the ability to identify morphological changes and thrombosed areas, in comparison to TSCU's limitations.
Article Synopsis
- Normal pressure hydrocephalus (NPH) can be classified into secondary NPH and idiopathic NPH (iNPH), with most cases appearing sporadically and only a couple of familial cases reported previously.
- A new study reveals a family spanning three generations with four patients exhibiting elderly-onset NPH symptoms, including cognitive impairment, gait issues, and urinary problems, all showing consistent MRI characteristics of iNPH.
- This family's findings suggest an autosomal-dominant inheritance pattern and propose the existence of a novel subtype of NPH called familial NPH, though no known causes of secondary NPH were identified among them.
Article Synopsis
- A study involving 552 acute stroke patients investigated the link between plasma adiponectin (ADPN) levels and cardiovascular death.
- Over a median follow-up of 17 months, 39 patients died, with 15 deaths attributed to stroke, and none to ischemic heart disease.
- After accounting for factors like age and health conditions, high ADPN levels (>11.7 μg/ml) were found to significantly increase the risk of stroke mortality, but not overall mortality.
Article Synopsis
- Soluble RAGE (sRAGE) functions as a decoy to inhibit harmful RAGE signaling, which is linked to complications like diabetic microangiopathy and potentially acute stroke.
- A study involving 482 stroke patients found that plasma sRAGE levels varied significantly by stroke subtype, with cardioembolic infarctions showing the highest levels.
- Factors such as severe leukoaraiosis, high NIHSS scores, smoking, and kidney function were linked to lower sRAGE levels, suggesting that these low levels could worsen neuronal damage and indicate long-term vascular issues in stroke patients.
Article Synopsis
- The study investigated the relationship between metabolic syndrome (MetS), defined by two different criteria, and stroke recurrence, alongside other risk factors like albuminuria, in patients who had recently experienced a stroke.
- A total of 474 patients were analyzed, with a follow-up showing that 49 patients with ischemic stroke and 5 patients with brain hemorrhage experienced a recurrence, including some fatal cases.
- The findings indicated that albuminuria was a significant predictor of recurrent ischemic stroke, while metabolic syndrome was not significantly linked to recurrence in this population.
Article Synopsis
- * Out of the participants, 51 (6.46%) had enlarged ventricles, with 12 showing specific iNPH features; 8 of these were asymptomatic.
- * During a follow-up of 4-8 years, 2 asymptomatic individuals developed symptoms, suggesting that asymptomatic ventriculomegaly could be an early stage of iNPH, with an overall prevalence of 0.51% in the study group.