Wikipedia:Peer review/Huntington's disease/archive1

Huntington's disease

This article has been through the Wikipedia:WikiProject Medicine/Collaboration of the Week, is marked as A class by the Wikipedia:WikiProject Medical Genetics and seems to be fairly good, but need comments and a neutral perspective on its quality.Leevanjackson 13:14, 12 August 2006 (UTC)

• The lead needs expansion; it's pretty skimpy at the moment. At least it should mention that the trinucleotide repeat leads to a polyglutamine region in the huntingtin protein; the prevalence of the disease; the most common/characteristic symptoms; and the fact that it is not curable.

• Have changed with your suggestions it might be too long now!Leevanjackson 15:18, 17 August 2006 (UTC)

• The intro to the "Symptoms and signs" section is awkwardly written. (Incidentally, is there a reason not to use the more common "signs and symptoms"?)

• No reason. I changed it to "Signs and symptoms". List should rather be in prose. NCurse _work 16:55, 12 August 2006 (UTC)
• Have reworded the intro, hope its better Leevanjackson 22:41, 30 August 2006 (UTC)

• Given the content, "Genetics" seems like it would logically precede "Pathophysiology" and possibly even "Diagnosis". The fact that children of HD sufferers are at risk of having HD doesn't really have context until the genetic explanation. Also, there's some redundancy between "Genetics" and "Pathophysiology" that should be resolved - both mention chromosome 4, for example.

• yep now its in a more logical order still in keeping with the medical style manual Leevanjackson 15:30, 17 August 2006 (UTC)

• Both "Genetics" and "Pathophysiology" could use some writing tweaks for clarity:
  • "loss of medium spiny neurons, a GABAergic result" -- contextless without at minimum a wikilink to GABA
  • "Genetically, huntingtin is found on chromosome 4, as are CAG repeats." -- well, I would hope the CAG repeats are on the same chromosome as the gene they're in. Unless you mean that CAG repeats also occur in other genes on chromosome 4? (That would be interesting, but I've never heard it before.)

• • Your right it didn't make sense and without a citation, 'tis removed, explained in genetics anyway Leevanjackson 09:56, 18 August 2006 (UTC)

• • "can lead to dysfunction of the proteosome system. This mitochondrial dysfunction... "-- Besides the typo ("proteasome"), the use of "this" isn't terribly clear. Does the aggregation have effects on both the proteasome and the mitochondria, or is the proteasomal deficiency the direct cause of mitochondrial dysfunction? If so, what is the mechanism?

• • fixed typo, but cant quite work out the mitochondrial/proteasome dysfunction Leevanjackson 09:56, 18 August 2006 (UTC)

• • There's mention of the "nanotube" idea but no discussion of amyloid itself - this would be a good connection to make with other protein misfolding diseases.
  • The "Genetics" section mentions that repeat number becomes unstable after 35 repeats and causes disease after 40. It should either be briefly explained why the DNA replication machinery has difficulty with repetitive sequences, or at least wikilink to DNA replication so readers can learn about it there.
  • It would be interesting to expand on the age-of-onset phenomenon, which I think is a matter of interest in popular descriptions of the disease. IIRC it has been suggested that the "sharp cutoff" in number of repeats needed to create disease is an effect of human lifespan - ie 30 repeats don't cause disease because the aggregation is slow enough that the person dies before it has a neurodegenerative effect. Unfortunately I can't find the paper I'm thinking of, but here is a related paper that expands on the biophysical origins of the effect.
• The "Others" section under management is very listy.
• The "Epidemiology" section could use some expansion if the data is available. Is it more prevalent in certain populations or ethnic groups? The prevalence statement also needs a citation, and there are weasel words in the ethics section.

Opabinia regalis 16:47, 12 August 2006 (UTC)

• Automated suggestions are provided here, that you may wish to refer for some useful style guidelines. - Mailer Diablo 17:29, 12 August 2006 (UTC)

• came in very useful, have applied many of its suggestionsLeevanjackson 15:17, 17 August 2006 (UTC)

• Nice, relatively concise article. I think it could use another pass to reduce jargon so that non-biologists / doctors are better able to understand it. But I would also like to see more references, especially peer-reviewed sources (journals/books are forever, web sites come and go). Satyrium 01:39, 16 August 2006 (UTC)