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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Publication date: Available online 22 March 2019Source: The Lancet NeurologyAuthor(s): Daniel Friedman, Jacqueline A French, Mauro MaccarroneSummaryIn the past two decades, there has been an increasing interest in the therapeutic potential of cannabinoids for neurological disorders such as epilepsy, multiple sclerosis, pain, and neurodegenerative diseases. Cannabis-based treatments for pain and spasticity in patients with multiple sclerosis have been approved in some countries. Randomised controlled trials of plant-derived cannabidiol for treatment of Lennox-Gastaut syndrome and Dravet syndrome, two severe childhood-onset ...
Source: The Lancet Neurology - Category: Neurology Source Type: research
[The sleep apnoea syndrome: Clinical characteristics of affected patients in the hospital population of Château-Thierry]. Rev Mal Respir. 2019 Mar 18;: Authors: Goddaert C, Jender A, Zulfiqar AA Abstract INTRODUCTION: The sleep apnoea syndrome (SAS) is a public health problem particularly due to its involvement in cardiovascular and metabolic disorders. The aim of this study was to investigate the epidemiological characteristics of the affected population in order to facilitate screening for SAS. MATERIALS AND METHODS: The study was retrospective, monocentric and observational. It was underta...
Source: Revue des Maladies Respiratoires - Category: Respiratory Medicine Tags: Rev Mal Respir Source Type: research
Publication date: Available online 22 March 2019Source: Journal of Clinical NeuroscienceAuthor(s): Yoon-Jung Kang, Kyung-Hye Kim, Sung-Hwan Jang, Gha-Hyun Lee, Yoon-Jung Lee, Yong-Sun Kim, Eun-Joo KimAbstractThe familial Creutzfeldt-Jakob disease (fCJD) usually has similar clinical and neuroimaging features as sporadic CJD (sCJD). A 57-year-old man presented with a four-month history of rapidly progressive dementia (RPD). Laboratory tests for RPD were all normal. Brain MRI demonstrated diffuse cortical atrophy and no abnormal cortical or striatal hyperintensities on fluid-attenuated inversion recovery (FLAIR)/diffusion wei...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
CONCLUSIONS: This study reveals a role of neuroinflammation in neurodegeneration after mild blast traumatic brain injury. Therapies that target this process might in warfighters might function either by attenuating the development of post-traumatic stress disorder, chronic traumatic encephalopathy and Alzheimer's disease, or by slowing their progression. PMID: 30901455 [PubMed - in process]
Source: Military Medicine - Category: International Medicine & Public Health Tags: Mil Med Source Type: research
Authors: Bhui K PMID: 30896382 [PubMed - in process]
Source: The British Journal of Psychiatry for Mental Science - Category: Psychiatry Tags: Br J Psychiatry 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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