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Groundbreaking drug could treat childhood Alzheimer's

Results of a small clinical trial in Washington State have shown promise to treat the neurogenerative condition called Niemann-Pick type C (NPC) that typically kills those afflicted before they turn 20.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Abstract Niemann-Pick disease type C (NPC) is a rare lysosomal storage disorder causing an intracellular lipid trafficking defect and varying damage to the spleen, liver, and central nervous system. The adult form, representing approximately 20% of the cases, is associated with progressive cognitive decline. Intriguingly, brains of adult NPC patients exhibit neurofibrillary tangles, a characteristic hallmark of Alzheimer's disease (AD). However, the cognitive, psychiatric, and neuropathological features of adult NPC and their relation to AD have yet to be explored. We systematically reviewed the literature on adul...
Source: Cognitive Neuropsychology - Category: Psychiatry & Psychology Authors: Tags: Cogn Neuropsychol Source Type: research
Boston-born Purnell Sabky, one, was diagnosed with Niemann-Pick disease type A on May 12. The condition is also known as childhood Alzheimer's and there is no cure.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Publication date: Available online 31 January 2017 Source:Molecular Aspects of Medicine Author(s): Andrea Leiva, Enrique Guzmán-Gutiérrez, Susana Contreras-Duarte, Bárbara Fuenzalida, Claudette Cantin, Lorena Carvajal, Rocío Salsoso, Jaime Gutiérrez, Fabián Pardo, Luis Sobrevia Adenosine as well as agonists and antagonists for the four adenosine receptor subtypes (A1R, A2AR, A2BR and A3R) play a role in several key physiological and pathophysiological processes, including the regulation of vascular tone, thrombosis, immune response, inflammation, and angiogenesis. This review focu...
Source: Molecular Aspects of Medicine - Category: Molecular Biology Source Type: research
Niemann-Pick Type C is a progressive and fatal disorder that gradually robs children of the ability to speak and walk, and causes intellectual decline and memory loss.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
by Stjepko Cermak, Marko Kosicek, Aleksandra Mladenovic-Djordjevic, Kosara Smiljanic, Selma Kanazir, Silva Hecimovic Proper function of lysosomes is particularly important in neurons, as they cannot dilute accumulated toxic molecules and aggregates by cell division. Thus, impairment of lysosomal function plays an important role in neuronal degeneration and in the pathogenesis of numerous neurodegenerative diseas es. In this work we analyzed how inhibition and/or loss of the major lysosomal proteases, the cysteine cathepsins B and L (CtsB/L), affects lysosomal function, cholesterol metabolism and degradation of the key Alz...
Source: PLoS One - Category: Biomedical Science Authors: Source Type: research
This article is part of a Special Issue entitled: Lipids of Mitochondria edited by Guenther Daum.
Source: Biochimica et Biophysica Acta (BBA) Molecular and Cell Biology of Lipids - Category: Lipidology Source Type: research
Conclusion We conclude that c-Abl activity facilitates the APP-BACE1 interaction, thereby promoting amyloidogenic processing of APP. Thus, inhibition of c-Abl could be a pharmacological target for preventing the injurious effects of increased Aβ levels in NPC disease.
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - Category: Molecular Biology 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 Lysosomes are membrane-bound organelles that are responsible for degrading and recycling macromolecules. Lysosomal dysfunction occurs in enzymatic and non-enzymatic deficiencies, which results in abnormal accumulation of materials. Although lysosomal storage disorders affect different organs, the central nervous system is the most vulnerable. Evidence shows the role of lysosomal dysfunction in different neurodegenerative diseases, such as Niemann-Pick Type C disease, juvenile neuronal ceroid lipofuscinosis, Alzheimer's disease and Parkinson's disease. Lysosomal enzymes such as lysosomal acid phosphatase 2...
Source: Current Molecular Medicine - Category: Molecular Biology Authors: Tags: Curr Mol Med 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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