A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration

We report clinical and pathologic findings of a family with ALS due to a truncating mutation, p.Gly141X, in copper/zinc superoxide dismutase (SOD1). The proband presented clinically with FTD and later showed progressive motor neuron disease, while all other family members had early-onset and rapidly progressive ALS without significant cognitive deficits. Pathologic examination of both the proband and her daughter revealed degeneration of corticospinal tracts and motor neurons in brain and spinal cord compatible with ALS. On the other hand, the proband also had neocortical and limbic system degeneration with pleomorphic neuronal cytoplasmic inclusions. Extramotor pathology in her daughter was relatively restricted to the hypothalamus and extrapyramidal system, but not the neocortex. The inclusions in the proband and her daughter were immunoreactive for SOD1, but negative for TAR DNA-binding protein of 43 kDa (TDP-43). In the proband, a number of the neocortical inclusions were immunopositive for α-internexin, initially suggesting a diagnosis of atypical FTLD, but there was no evidence of fused in sarcoma (FUS) immunoreactivity, which is often detected in atypical FTLD. Analogous to atypical FTLD, neuronal inclusions had variable co-localization of SOD1 and α-internexin. The current classification of FTLD is based on the major constituent protein: FTLD-tau, FTLD-TDP-43, and FTLD-FUS. The proband in this family indicates that SOD1, while rare, can also be the su...
Source: Acta Neuropathologica - Category: Neurology Source Type: research

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The differential diagnosis of fibroids could be challenging with other uterine masses including adenomyomas or uterine cancers and sarcomas. Minimally Invasive procedures including morcellation mandates a thorough imaging and if possible histologic analyses. To date such a pathologic approach has a very poor accuracy, even conducted under ultrasound, MRI or hysteroscopic guidance. A targeted biopsy requires the development of state of the art imaging and robotics to enable a secure, reproducible, and accurate sampling.
Source: The Journal of Minimally Invasive Gynecology - Category: OBGYN Authors: Tags: Virtual Poster Session 2:  Basic Science/Research/Education (1:40 PM – 1:50 PM) 1:40 PM: STATION L Source Type: research
Publication date: Available online 13 October 2019Source: Alzheimer's &DementiaAuthor(s): Catherine M. Calvin, Tim Wilkinson, John M. Starr, Cathie Sudlow, Saskia P. Hagenaars, Sarah E. Harris, Christian Schnier, Gail Davies, Chloe Fawns-Ritchie, Catharine R. Gale, John Gallacher, Ian J. DearyAbstractIntroductionProspective studies reporting associations between cognitive performance and subsequent incident dementia have been subject to attrition bias. Furthermore, the extent to which established risk factors account for such associations requires further elucidation.MethodsWe used UK Biobank baseline cognitive data (n...
Source: Alzheimer's and Dementia: The Journal of the Alzheimer's Association - Category: Geriatrics Source Type: research
Publication date: Available online 13 October 2019Source: NeuroImageAuthor(s): Aurélien Massire, Henitsoa Rasoanandrianina, Maxime Guye, Virginie CallotAbstractT1 mapping lacks specificity toward a single particular biological feature, however it has the potential to discriminate spinal cord regional tissue organization and characterize tissue microstructural impairments occurring in neurodegenerative pathologies. In this exploratory work, T1 mapping of the cervical spinal cord with a 300-μm in-plane resolution was performed on fourteen healthy subjects at 7 T, using the MP2RAGE sequence. Individual images from...
Source: NeuroImage - Category: Neuroscience Source Type: research
Toronto researchers found patients who have symptoms of aggression as a result of the disorder responded better to outdoor activities than antipsychotic drugs.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Severe thalamic injury can determine a particular type of vascular dementia affecting multiple network dysfunctions, considered the central role of thalamus as a hub for afferent and efferent stimuli. A 67-year-old male patient with bilateral thalamic stroke was studied with positron emission tomography, magnetic resonance imaging, and cognitive assessment, performed at baseline and at two follow-up evaluations. A pattern primarily involving thalamo-frontal connections was observed by both PET and tractography analyses. All significant differences between the patient and controls involved the anterior thalamic radiation, o...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
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(Natural News) Researchers from the University of Southern California found a promising way to restore working memory in people with dementia. In their study, which was published in the Journal of Biological Chemistry, they found that compounds in green tea and carrots might reverse Alzheimer’s-like symptoms. For the study, the researchers examined the effect of...
Source: NaturalNews.com - Category: Consumer Health News Source Type: news
Commentary on "Low Mood and Risk of Dementia: The Role of Marital Status and Living Situation". Am J Geriatr Psychiatry. 2019 Sep 11;: Authors: Monin JK PMID: 31606276 [PubMed - as supplied by publisher]
Source: The American Journal of Geriatric Psychiatry - Category: Psychiatry Tags: Am J Geriatr Psychiatry Source Type: research
Conclusion The key problem with the ND field is the lack of understanding in the events preceding the development of protein-based markers – such as Tau – currently used to diagnose NDs. By this stage, the diseases become more difficult to treat. SncRNAs play an important regulatory role in the maintenance of the homeostatic brain. Therefore, changes in their concentration levels can be indicative of mechanistic changes that could precede protein-based markers. One single sncRNA biomarker is unlikely to differentiate between diseases. However, a combination of sncRNA biomarkers could be illustrative of the me...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
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