The 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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The identification of mutations in the amyloid precursor protein (APP) and PSEN1 and PSEN2 that cause autosomal dominantly inherited Alzheimer ’s disease (AD) and result in increased production of aggregation-prone forms of amyloid-β (Aβ) established beyond a doubt that APP processing and the production of Aβ peptides are intimately involved in the disease process and led to the proposal of and support for the amyloid cascade hypothes is for AD (1,2). Despite its strengths, the amyloid cascade hypothesis is incomplete without addressing the essential role of amyloid-associated proteins [for reviews, see (3,4)].
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Commentary Source Type: research
Alzheimer ’s disease (AD) is characterized by the hallmark pathologies of amyloid-β (Aβ) plaques and tau tangles. Recently, many drug trials and much research have focused on preventing or removing these pathologies, especially Aβ. While some trials have been able to effect change in amyloid levels, none have succeeded in improving cognition. Although the trials may have involved patients that were too advanced for benefit with antiamyloid therapies, an inability of these drugs to protect synaptic function may have contributed to their failure.
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Commentary Source Type: research
With the advances of modern medicine, people are living longer than ever before worldwide. Consequently, an increase in patients with dementia has become a serious social concern, with Alzheimer ’s disease (AD) being the most common form of dementia. In 2015, the World Alzheimer Report estimated that approximately 46.8 million people had AD and other types of dementia worldwide. Accordingly, the number of such patients is predicted to increase to more than 131.5 million by the year 2050. Therefore, the development of new therapeutic alternatives to control AD progression and even reverse the disease is urgently needed.
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Commentary Source Type: research
Adhering to a healthy lifestyle reduces the chances of developing dementia, even among those at genetic risk for dementia, new research suggests.Medscape Medical News
Source: Medscape Psychiatry Headlines - Category: Psychiatry Tags: Psychiatry News Source Type: news
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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