Neurodegenerative Disease
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Author(s):  
Adithya Chandregowda ◽  
Heather M. Clark

Purpose The purpose of this clinical focus article is to illustrate how speech-language pathologist (SLP) characterization of anarthria can contribute to neurological diagnosis and to highlight the challenges associated with such an endeavor. Method Used in this study are a retrospective chart review and clinicians' experience-based reflections. Results A 65-year-old man, who, in the context of a neurodegenerative disease, presented with near-complete-loss of speech, was referred by neurologists to SLPs for further characterization of his speech difficulty. Assessment of his limited speech output revealed anarthria with mixed features (spastic and hypokinetic) with superimposed apraxia of speech. Conclusions SLP characterization of anarthria to facilitate neurological diagnosis is challenging but possible. Clinical lessons learned from this unusual scenario are discussed.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jia Song ◽  
Ying Zhang ◽  
Yue Lang ◽  
Yi-Heng Wang ◽  
Jie Shao ◽  
...  

Abstract Background Paraneoplastic neurological syndromes (PNSs) are broad-spectrum disorders that can affect any part of the nervous system varying in core symptoms. Onconeural antibodies, including Hu, Yo, Ri, anti-CV2, amphiphysin, Ma2, and Tr are well-characterized and commonly used for the diagnosis of definite PNS. Generally, anti-CV2 antibodies have usually been associated with cerebellar ataxia, chorea, peripheral and autonomic neuropathies, myelopathy, optic neuritis, and retinitis. However, Parkinsonism has not been reported as the core symptom in patients with anti-CV2 antibodies. Case presentation We report a patient with anti-CV2 antibody manifested as Parkinsonism and autonomic dysfunction, which may lead to the diagnosis of multiple system atrophy with predominant Parkinsonism (MSA-P). A lumbar puncture examination was undergone to find a positive anti-CV2 antibody in cerebrospinal fluid. PET-CT showed no tumor. Immunotherapy was adopted and the symptoms were relieved for 5 months. However, with no evidence of tumor, he died after 8 months. Conclusions Our findings indicate that PNS with anti-CV2 antibody can be shown as MSA-P mimic. Considering that MSA is a neurodegenerative disease with a poor prognosis, screening for other treatable or controllable factors like PNS presented in this case is necessary when encountering a rapid progressive MSA-mimic patient.


Cells ◽  
2021 ◽  
Vol 10 (11) ◽  
pp. 2870
Author(s):  
Sonia Sonda ◽  
Diana Pendin ◽  
Andrea Daga

The endoplasmic reticulum (ER) is the most abundant and widespread organelle in cells. Its peculiar membrane architecture, formed by an intricate network of tubules and cisternae, is critical to its multifaceted function. Regulation of ER morphology is coordinated by a few ER-specific membrane proteins and is thought to be particularly important in neurons, where organized ER membranes are found even in the most distant neurite terminals. Mutation of ER-shaping proteins has been implicated in the neurodegenerative disease hereditary spastic paraplegia (HSP). In this review we discuss the involvement of these proteins in the pathogenesis of HSP, focusing on the experimental evidence linking their molecular function to disease onset. Although the precise biochemical activity of some ER-related HSP proteins has been elucidated, the pathological mechanism underlying ER-linked HSP is still undetermined and needs to be further investigated.


Author(s):  
Franziska Trnka ◽  
Christian Hoffmann ◽  
Han Wang ◽  
Roberto Sansevrino ◽  
Branislava Rankovic ◽  
...  

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that leads to the death of upper and lower motor neurons. While most cases of ALS are sporadic, some of the familial forms of the disease are caused by mutations in the gene encoding for the RNA-binding protein FUS. Under physiological conditions, FUS readily phase separates into liquid-like droplets in vivo and in vitro. ALS-associated mutations interfere with this process and often result in solid-like aggregates rather than fluid condensates. Yet, whether cells recognize and triage aberrant condensates remains poorly understood, posing a major barrier to the development of novel ALS treatments. Using a combination of ALS-associated FUS mutations, optogenetic manipulation of FUS condensation, chemically induced stress, and pH-sensitive reporters of organelle acidity, we systematically characterized the cause-effect relationship between the material state of FUS condensates and the sequestering of lysosomes. From our data, we can derive three conclusions. First, regardless of whether we use wild-type or mutant FUS, expression levels (i.e., high concentrations) play a dominant role in determining the fraction of cells having soluble or aggregated FUS. Second, chemically induced FUS aggregates recruit LAMP1-positive structures. Third, mature, acidic lysosomes accumulate only at FUS aggregates but not at liquid-condensates. Together, our data suggest that lysosome-degradation machinery actively distinguishes between fluid and solid condensates. Unraveling these aberrant interactions and testing strategies to manipulate the autophagosome-lysosome axis provides valuable clues for disease intervention.


Author(s):  
Jun An ◽  
Yan He ◽  
JunJun Yin ◽  
ZhiBin Ding ◽  
QingXian Han ◽  
...  

Multiple sclerosis (MS) is an inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS). Here, we reported the temporal and spatial evolution of various functional neurons during demyelination in a cuprizone (CPZ)-induced mouse model. CPZ did not significantly induce the damage of axons and neurons after 2 weeks of feeding. However, after 4-6 weeks of CPZ feeding, axons and neurons were markedly reduced in the cortex, posterior thalamic nuclear group, and hippocampus. Simultaneously, the expression of TPH+ tryptophan neurons and VGLUT1+ glutamate neurons was obviously decreased, and the expression of TH+ dopaminergic neurons was slightly decreased in the tail part of the substantia nigra striatum, while the number of ChAT+ cholinergic neurons was not significantly different in the brain. In the second week of feeding, CPZ caused a higher level of glutamate secretion and up-regulated the expression of EAAT2 on astrocytes, which should contribute to rapid and sufficient glutamate uptake and removal. This finding reveals that astrocyte-driven glutamate retake protected the CNS from excitotoxicity by rapid re-uptake of glutamate in 4-6 weeks of CPZ feeding. At this stage, although NG2+ oligodendroglia progenitor cells (OPCs) were enhanced in the demyelination foci, the myelin sheath was still absent. In conclusion, we comprehensively observed the temporal and spatial evolution of various functional neurons. Our results will assist with understanding how demyelination affects neurons during CPZ-induced demyelination and provides novel information for neuroprotection in myelin regeneration and demyelinating diseases.


2021 ◽  
pp. 030631272110525
Author(s):  
Gregory Hollin

Chronic Traumatic Encephalopathy, or CTE, is a neurodegenerative disease caused by traumatic brain injury and most frequently associated with contact sports such as American Football. Perhaps surprisingly, the woodpecker – an animal apparently immune to the effects of head impacts – has increasingly figured into debates surrounding CTE. On the one hand, the woodpecker is described as being contra-human and used to underscore the radical inappropriateness of humans playing football. On the other, there have been attempts to mitigate against the risk of CTE through the creation of biomimetic technologies inspired by woodpeckers. In this article I examine the highly politicized encounters between humans and woodpeckers and discuss how the politics of re-/dis-/en-tanglement during these interspecies relations is rendered meaningful. I show here, first, that those who seek to keep the human and the woodpecker apart envisage social overhaul while biomimetic technologies are put to work for the status quo. Second, I stress that different forms of entanglement have diverse sociopolitical consequences. I conclude by suggesting that the case of the woodpecker troubles a strand of contemporary scholarship in Science and Technology Studies that argues that biotechnologies are inherently transformatory and that foregrounding entanglement and interspecies relations is ethically generative. Instead, a discursive separation of nature and culture may be innovative.


2021 ◽  
Vol 12 ◽  
Author(s):  
Xiaoyue Li ◽  
Yelei Zhang ◽  
Xinyu Chen ◽  
Hongwei Yuan ◽  
Zhiqiang Wang ◽  
...  

Objectives: Dementia of the Alzheimer's type (DAT) is the most common chronic neurodegenerative disease. At present, the pathogenesis of DAT is not completely clear, and there are no drugs that can cure the disease. Once an individual is diagnosed with DAT, the survival time is only 3 to 9 years. Therefore, there is an urgent need to determine the etiology of DAT and the associated influencing factors to find a breakthrough in the treatment of DAT.Methods: We studied the relationship between polymorphisms in several genes (including BIN1 and APOE) and DAT susceptibility and the effects of sex differences on DAT. Our study included 137 patients with DAT and 509 healthy controls (HCs).Results: The APOE rs429358 polymorphism CC and CT genotypes were associated with an increased risk of DAT in women. We found a significant association between APOE ε4 and DAT. The frequency of the ε4 allele in the DAT group (15.5%) was higher than that in the HC group (8.7%). The BIN1 rs7561528 polymorphism was associated with a decreased risk of DAT in men.Conclusions: APOE gene rs429358 and BIN1 gene 7561528 genes may affect the susceptibility to DAT in a Chinese Han population.


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