The Texas sisters with childhood Alzheimer's

Both Abby, three, and Belle, seven, have Niemann-Pick Type C1, a genetic disease where in time, children slowly regress until they can ’t walk, eat, and dementia will set in before age 10.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Discussion of Developmental Effects on Aging Microtubule Function and Longevity in Nematodes Quantifying the Correlation Between Poverty and Faster Pace of Aging Matthew O'Connor Presenting on Underdog Pharmaceuticals at Undoing Aging 2019 Here Matthew O'Connor of the SENS Research Foundation talks about the research that led to founding of Underdog Pharmaceuticals, a biotech startup incubated by the foundation to commercialize a means of targeting 7-ketocholesterol in atheroscleros...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
CONCLUSION: Our findings suggest that although MCI subjects showed similar behavioral phenotypes at the time of diagnosis, EF and further progression were associated with different brain regions according to Aβ burden. Clarification of the etiologies and nature of EF impairment in aMCI are critical for disease prognosis and management. PMID: 31538428 [PubMed - in process]
Source: Yonsei Medical Journal - Category: Universities & Medical Training Authors: Tags: Yonsei Med J Source Type: research
Publication date: Available online 21 September 2019Source: Progress in NeurobiologyAuthor(s): Lindsey D. Goodman, Nancy M. BoniniABSTRACTMany human diseases are associated with the expansion of repeat sequences within the genes. It has become clear that expressed disease transcripts bearing such long repeats can undergo translation, even in the absence of a canonical AUG start codon. Termed “RAN translation” for repeat associated non-AUG translation, this process is becoming increasingly prominent as a contributor to these disorders. Here we discuss mechanisms and variables that impact translation of the repea...
Source: Progress in Neurobiology - Category: Neuroscience Source Type: research
Photo credit Sharon McCutcheon Dear Carol: My 71-year-old mother is slender, a non-smoker, socially active, and gets a decent amount of exercise. She takes three medications that I know of. While she has an occasional “gap out” with a word here and there, that seems like normal aging. What troubles me is that she’s increasingly paranoid about other people doing things to her. When she forgets where she put something, she’s sure someone moved it or took it. If she has a car problem, she insists that someone sabotaged it. I try to ease her mind by joking about her suspicions but she won...
Source: Minding Our Elders - Category: Geriatrics Authors: Source Type: blogs
This study underscores the importance of chronic stimulation in the modulation of sensorimotor integration and proprioception. The authors considered two possible mechanisms underlying SAI modulation by STN DBS. High-frequency DBS of the STN might normalize synchronization between basal ganglia structures, which might restore the ability of thalamocortical relay cells to respond to depolarizing inputs involved in sensorimotor integration (Brown et al., 2001; Rubin and Terman, 2004). Alternatively, STN DBS might have a direct effect on cortical structures through antidromic stimulation of the cortico-subthalamic pathway. I...
Source: Frontiers in Human Neuroscience - Category: Neuroscience Source Type: research
Niemann-Pick disease type C (NP-C) is a rare, progressive neurodegenerative disease caused by mutations in the NPC1 or the NPC2 gene. Neurocognitive deficits are common in NP-C, particularly in patients with the ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Both Abby, three, and Belle, seven, have Niemann-Pick Type C1, a genetic disease where in time, children slowly regress until they can ’t walk, eat, and dementia will set in before age 10.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Hydroxypropyl-β-cyclodextrin formulated in nasal chitosan microspheres as candidate therapeutic agent in Alzheimer's disease. Curr Drug Deliv. 2017 Oct 19;: Authors: Rassu G, Gavini E, Carta A, Obinu A, Porcu EP, Giunchedi P Abstract Hydroxypropyl-β-cyclodextrin (HP-CD) is a hydroxyalkyl derivative of native β-cyclodextrin, cyclic oligosaccharide able to form inclusion complexes with many drugs and biomolecules [1]. Cyclodextrins have a possible neuroprotective effect due to their capability to extract and deplete cholesterol from cell membranes [1]. HP-CD is classified as an excipient ...
Source: Current Drug Delivery - Category: Drugs & Pharmacology Authors: Tags: Curr Drug Deliv Source Type: research
Conclusions: Diagnosis of ANCL remains challenging; expert pathologic analysis and recent molecular genetic advances revealed misdiagnoses in>1/3 of cases. We now have a refined group of cases that will facilitate identification of new causative genes.
Source: Neurology - Category: Neurology Authors: Tags: All Movement Disorders, All Cognitive Disorders/Dementia ARTICLE Source Type: research
Abstract Trisomy 21 and the consequent extra copy of the amyloid precursor protein (APP) gene and increased beta-amyloid (Aβ) peptide production underlie the universal development of Alzheimer's disease (AD) pathology and high risk of AD dementia in people with Down syndrome (DS). Trisomy 21 and other forms of aneuploidy also arise among neurons and peripheral cells in both sporadic and familial AD and in mouse and cell models thereof, reinforcing the conclusion that AD and DS are two sides of the same coin. The demonstration that 90% of the neurodegeneration in AD can be attributed to the selective loss of a...
Source: Current Alzheimer Research - Category: Neurology Authors: Tags: Curr Alzheimer Res Source Type: research
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