Increased Neurofilament Light Chain and YKL-40 CSF Levels in One Japanese IBMPFD Patient With VCP R155C Mutation: A Clinical Case Report With CSF Biomarker Analyses

Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal dementia (IBMPFD) presents with multiple symptoms and an unknown etiology. Valosin-containing protein (VCP) has been identified as the main causative gene of IBMPFD. However, no studies on neurofilament light chain (NFL) as a cerebrospinal fluid (CSF) marker of axonal neurodegeneration or on YKL-40 as a CSF marker of glial neuroinflammation have been conducted in IBMPFD patients with VCP mutations. A 65-year-old man presented with progressive muscle atrophy and weakness of all limbs, non-fluent aphasia, and changes in personality and behavior. Cerebral MRI revealed bilateral frontal and temporal atrophy. 99mTc-HMDP bone scintigraphy and pelvic CT revealed remodeling changes and active osteoblastic accumulations in the right medial iliac bone. Muscle biopsy demonstrated multiple rimmed vacuoles in muscle cells with myogenic and neurogenic pathological alterations. After the patient was clinically diagnosed with IBMPFD, DNA analysis of the VCP gene revealed a cytosine (C) to thymine (T) (C→ T) mutation, resulting in an amino acid exchange of arginine to cysteine (p.R155C mutation). The CSF levels of NFL at two time points (12 years apart) were higher than those in non-dementia controls (CTR) and Alzheimer's disease (AD); lower than those in frontotemporal dementia with motor neuron disease (FTD-MND); and comparable to those in patients with behavioral variant frontotemporal dementia (bvFTD)...
Source: Frontiers in Neurology - Category: Neurology Source Type: research

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Publication date: Available online 21 September 2020Source: The Lancet Respiratory MedicineAuthor(s): You Li, Emily K Johnson, Ting Shi, Harry Campbell, Sandra S Chaves, Catherine Commaille-Chapus, Izzie Dighero, Spencer L James, Cédric Mahé, Yujing Ooi, John Paget, Tayma van Pomeren, Cécile Viboud, Harish Nair
Source: The Lancet Respiratory Medicine - Category: Respiratory Medicine Source Type: research
There are twenty or so different proteins in the body that can become altered in ways that cause them to aggregate into solid deposits known as amyloids, spreading and encouraging other molecules of the same protein to do likewise. Amyloids are a phenomenon of old individuals and old tissues, for reasons that are much debated and no doubt quite complex. Some of these amyloids are well studied and well known to be harmful, such as the amyloid-β involved in Alzheimer's disease. Others are known but less well studied, and whether or not they are harmful is a question mark. The progression of knowledge over the pas...
Source: Fight Aging! - Category: Research Authors: Tags: Medicine, Biotech, Research Source Type: blogs
In conclusion, 0.16 mT and 0.65 mT magnetic fields were not able to generate significant effects on vasculogenesis and angiogenesis. However, the embryos exposed to 6 h of magnetic field with 0.65 mT intensity and 60 Hz frequency showed a decrease in embryonic body development. PMID: 32954862 [PubMed - as supplied by publisher]
Source: Electromagnetic Biology and Medicine - Category: Physics Tags: Electromagn Biol Med Source Type: research
We examined the association between androgen deprivation therapy (ADT) use and the risk of mild cognitive impairment (MCI) among prostate cancer patients. METHODS: We included 241 cognitively unimpaired men, aged 70 to 90, with a history of prostate cancer before enrollment in the population-based Mayo Clinic Study of Aging. Using the Rochester Epidemiology Project medical records-linkage system, ADT use and length of exposure were abstracted. Follow-up visits occurred every 15 months and MCI diagnoses were made based on clinical consensus. Cox proportional hazards models, with age as the timescale, were used to examin...
Source: Alzheimer Disease and Associated Disorders - Category: Psychiatry Tags: Alzheimer Dis Assoc Disord Source Type: research
CONCLUSIONS: Beliefs about AD genetic testing, AD worry, and AD stigma are related to research participation, but relationships vary based on the research participation investigated. Future work should identify how these findings can inform outreach and recruitment efforts. PMID: 32960855 [PubMed - as supplied by publisher]
Source: Alzheimer Disease and Associated Disorders - Category: Psychiatry Tags: Alzheimer Dis Assoc Disord Source Type: research
Authors: Hughes TF, Liu A, Jacobsen E, Rosano C, Berman SB, Chang CH, Ganguli M Abstract INTRODUCTION: Although exercise is associated with a lower risk for mild cognitive impairment (MCI), it is unclear whether its protective effect depends on the presence or absence of vascular factors. METHODS: In an exploratory study of data from a population-based cohort, 1254 participants aged 65+ years were followed for 10 years for incident MCI. The main effect of baseline total minutes of exercise per week (0 vs. 1 to 149 vs. 150+), and its interaction with several vascular factors, on risk for incident MCI was examine...
Source: Alzheimer Disease and Associated Disorders - Category: Psychiatry Tags: Alzheimer Dis Assoc Disord Source Type: research
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Source: Expert Review of Pharmacoeconomics and Outcomes Research - Category: Health Management Tags: Expert Rev Pharmacoecon Outcomes Res Source Type: research
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Source: Medscape Diabetes Headlines - Category: Endocrinology Tags: Diabetes & Endocrinology News Source Type: news
Publication date: Available online 23 September 2020Source: Japanese Dental Science ReviewAuthor(s): Jorge Perdigão
Source: Japanese Dental Science Review - Category: Dentistry Source Type: research
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Source: NYT Health - Category: Consumer Health News Tags: Coronavirus (2019-nCoV) Source Type: news
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