eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hartnup disease |
| Comorbidity | C0679466|cognitive deficits |
| Sentences | 2 |
| PubMedID- 22307858 | cognitive deficits in machado-joseph disease correlate with hypoperfusion of visual system areas. |
| PubMedID- 24717093 | Although plaques containing aβfibrils have been viewed as the conventional hallmark of ad, recentresearch has implicated small oligomeric species formed during theaggregation of aβ in the neuronal toxicity and cognitive deficitsassociated with diseases such as ad.2−5 a large number of studies has been performedin which mixtures of aβ monomers and oligomers have been addedto cells and brain slices and the consequent physiological changesmonitored;6,7 the results of these studies have identifiedoligomers of aβ, not the monomers, to be the most damaging species.in the majority of such experiments, however, only the total monomerconcentration is known accurately, and in several cases, it is higherthan the endogenous concentrations of aβ monomers in csf, typically1–10 nm.8 therefore, the importantquestions concerning the specific mechanisms by which oligomers initiallydamage cells and the concentration of oligomers that is required toelicit such damage remain to be answered. |
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