Talk:CADASIL

Comments

There are several Notch 3 abnormalities identified with CADASIL occurrences.
There are a number of forms of DYSPLASIA associated with abnormal Notch 3 structure in a number of organisms including man.

Sometime ago while taking transmission electron micrographs of human blood vessels to identify CADASIL lesions it was noticed occasionally that striated fibre bundles with resemblance to ill-formed skeletal muscle bundles were seen in the smooth muscle endothelial cells of small blood vessels.

When once asked to take pictures of skeletal muscle-tendon-bone "junctions" views similar to those in CADASIL cases external to the muscle cells, entering muscle cells with similar appearance to the Granular Osmiophilic dense deposits of the CADASIL lesion - the muscle fibre striation of course being here well formed.
{i had tried to interest people in examining the possibility that the blood vessel fault induced by the pathological Notch 3 gene was DYSPLASTIC - smooth muscle tending to skeletal, but since i worked in a diagnostic, non-research area i was unsuccessful}
Tendered, with apologies if this seems ridiculous, thanks, Julian Ophel, julo@pax.apana.org.au.

203.171.67.149 (talk) 06:48, 15 February 2009 (UTC)

Name

The article would be better labeled just 'CADASIL' as it is not just a syndrome, but a clearly identifiable disease, with known genetic mutations. 199.231.28.148 (talk) 17:58, 22 October 2013 (UTC)

This was a fair point to consider in the case of this particular entity, because actual usage in the medical literature uses "CADASIL" more than "CADASIL syndrome" (as seen in skimming article titles at https://www.ncbi.nlm.nih.gov/pubmed/?term=CADASIL%5BTitle%5D&cmd=DetailsSearch). Plus, looking at most of the related DB pages shows the same thing (OMIM 125310, DiseasesDB 2161, MeSH D046589, Orphanet 136). For various other entities, the argument would not apply, because as explained at article "Syndrome" and at section "Disease § Terminology", long-established usage sometimes persists after the nosology and pathophysiology become better understood. This is why, for example, Down syndrome is still commonly called "Down syndrome" even though it is long since a distinct disease entity with known etiology. But in this instance, WP:Common name supports the suggestion, so I did a WP:MOVE accordingly. Quercus solaris (talk) 02:01, 15 June 2017 (UTC)

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