Publications by authors named "T Kurashige"
Article Synopsis
- Immune-mediated necrotizing myopathy (IMNM) is an inflammatory muscle disease that typically doesn't present with skin rashes, but patients with the specific HMGCR antibody may exhibit atypical skin conditions.
- A study of 100 IIM patients revealed that 34% had skin conditions, with 42% of those with HMGCR-IMNM showing atypical lesions, which were distinct from typical IIM-related rashes.
- Skin biopsies from HMGCR-IMNM patients revealed similar microscopic features, specifically Bcl-2-positive lymphocyte infiltrations, suggesting that these atypical skin manifestations could be a clue for diagnosing HMGCR-IMNM.
Article Synopsis
- The study investigates the genetic basis of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) by analyzing multiple family members with different disease symptoms.
- Researchers performed genetic and biochemical tests, identifying a specific mutation (c.896_897insACA) in the MAPT gene that correlates with reduced tau protein functionality and abnormal tau aggregation in affected individuals.
- The findings indicate that this mutation leads to symptoms resembling Parkinson's disease initially, progressing to atypical features like progressive supranuclear palsy, highlighting the need for further research on MAPT mutations and their effects.
Article Synopsis
- Pontine autosomal dominant microangiopathy and leukoencephalopathy is a hereditary condition linked to small vessel diseases affecting the brain, marked by small infarctions in the pons region.
- Researchers conducted genetic sequencing and clinical assessments on a family with this undiagnosed condition and identified a specific genetic variant that confirmed the diagnosis in two other patients.
- A notable radiological feature termed the "raisin bread sign" was discovered, characterized by multiple oval small infarctions in the pons, which corresponds with specific pathological changes observed postmortem.
Apolipoprotein E4 (APOE4), the strongest risk factor for late-onset Alzheimer's disease (AD), has been revealed to cause greater accumulation of extracellular amyloid β (Aβ) 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 Aβ without needing overexpression of APP.
View Article and Find Full Text PDFThe discovery of transacting response DNA-binding protein of 43 kDa (TDP-43) led to a deeper understanding of the pathogenesis of amyotrophic lateral sclerosis (ALS). Since this discovery, blood and cerebrospinal fluid biomarkers of ALS have been reported. However, these biomarkers do not exhibit sufficient specificity for ALS.
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