Misplaced Pages

Revision as of 22:49, 26 September 2007

• External links in the articles should be reference links.

from peer review

• Both "Causes" and "Mechanism" could use some writing tweaks for clarity:
• "loss of medium spiny neurons, a GABAergic result" -- contextless without at minimum a wikilink to GABA
• "can lead to dysfunction of the proteosome system. This mitochondrial dysfunction..., 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?
• 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.

D666D 22:47, 26 September 2007 (UTC) what is this "sharp cut off" point that is mentioned? This is definitly NOT the case. There are two overlapping populations. The normal group with a peak at 16 CAG repeats and the HD group with a peak at 40 CAG repeats, with some overlap around 36 repeats. There is also a mater of instability. Those in the "normal" range show very little instability in repeat length from generation to generation, while those in the HD range and those in the intermediate range, show instability, particularly in paternal transmission (anticipation). (see Harper and Jones, 2003, in Bates et al, 2003: Huntington's disease, 3rd Ed, Oxford Monographs on Medical Genetics).

• 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)
• Could use another pass to reduce jargon so that non-biologists / doctors are better able to understand it.
• More references, especially peer-reviewed sources . Satyrium 01:39, 16 August 2006 (UTC)

from medical genetics

• article is a bit too 'listy' needs to have sections converted into prose

from discussion

• the introduction
• images/graphs of age of onset, distribution of CAG repeats,maybe the huntingtin molecule - (possibly as main image)

• it would be much appreciated if something could be added regarding Pre-Implantation Genetic Diagnosis as an option for having children without passing the gene forward. Although there are still ethical considerations, they may be more bearable than the choice to abort or not.