Talk:Tay–Sachs disease/GA1

GA Review

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Reviewer: Jmh649 (talk · contribs) 19:01, 29 April 2012 (UTC)

Will review

In a couple of days. Others are free to comment. --Doc James (talk · contribs · email) 19:01, 29 April 2012 (UTC)

• Reference number 3 "Neurologic and Muscular Disorders" could use an ISBN. We will also need page numbers.

  Put an ISBN, only thing I know about the chapter is that it's the 23rd. Added another reference.

• We have this extensive review Fernandes Filho, JA (2004 Sep). "Tay-Sachs disease". Archives of neurology. 61 (9): 1466–8. PMID 15364698. {{cite journal}}: Check date values in: |date= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help) yet it does not appear to be used as a reference.

  There is no harm in having it.

• Same with this one Sutton, VR (2002 Jun). "Tay-Sachs disease screening and counseling families at risk for metabolic disease". Obstetrics and gynecology clinics of North America. 29 (2): 287–96. PMID 12108829. {{cite journal}}: Check date values in: |date= (help)

  As above. ~~Ebe123~~ → report 10:58, 11 May 2012 (UTC)

Further comments

Will provide further comments however away for a bit... --Doc James (talk · contribs · email) 23:32, 10 May 2012 (UTC)

Is this review going to be done? Wizardman _{Operation Big Bear} 12:42, 2 June 2012 (UTC)

Yes. But feel free to provide additional feedback. --Doc James (talk · contribs · email) 18:38, 2 June 2012 (UTC)

Sign and symptoms

• These terms should be defined in the text "atrophied, and paralytic"
• We do not typically use the term "victims" but rather "person with X" per WP:MEDMOS
• Could use more refs such as for "People with late-onset Tay–Sachs frequently become full-time wheelchair users in adulthood."
• What do you mean by "late-onset Tay–Sachs disease is usually not fatal as it can stop." It sort of implies that this type goes away.
• This could also us a ref "Until the 1970s and 1980s, when the disease's molecular genetics became known, the juvenile and adult forms of the disease were not always recognized as variants of Tay–Sachs disease."
• Ref 6 is a primary research paper and review are available. We should use reviews. http://www.ncbi.nlm.nih.gov/pubmed/6454083Doc James (talk · contribs · email) 12:45, 11 June 2012 (UTC)

Research

The reference does not support the text in question. A 12 infant study does not "prove effectiveness" in Krabbe disease.

Gene therapy possibilities have been explored for Tay–Sachs and other lysosomal storage diseases. If the defective genes were replaced throughout the brain, Tay–Sachs would be cured. However, researchers working in this field believe that they are years away from the technology to transport the genes into neurons, which may be as difficult as transporting the enzyme itself. Use of a viral vector, which uses a (semi-)infectious virus as a means to introduce new genetic material into target cells, has been proposed as a technique for curing genetic diseases in general. Hematopoietic stem cell therapy (HSCT), another form of gene therapy, takes primitive cells that have not yet differentiated and taken on more highly specialized functions, removes them from the body, alters their genetics, then puts them back into the body. Yet another approach to gene therapy uses stem cells from umbilical cord blood in an effort to replace the defective gene, which has been proven effective with Krabbé disease.

Doc James (talk · contribs · email) 12:52, 11 June 2012 (UTC)

References

• Some of the references such as number 22 are not filled in "N Engl J Med 2012;366:64"
• We should not be using a 1966 primary research paper "http://www.ncbi.nlm.nih.gov/pubmed/5947589"
• Here is another primary research paper "http://www.ncbi.nlm.nih.gov/pubmed/2953646"
• As is this "http://www.ncbi.nlm.nih.gov/pubmed/1307230"
• This ref is another primary source and not formatted properly "Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients."
• Where you quote the references of Tay and Sach directly in the history section, some consider this to be primary research and would prefer that you quote a secondary source.

Before this will pass FA the references need to be improved to secondary sources from the last 10 years per WP:MEDRS Doc James (talk · contribs · email) 12:45, 11 June 2012 (UTC)

Additional notes from another user

• The diagnosis section should not focus on the cherry red spot. Tay-Sachs is not the only disease that presents with a cherry red spot, nor do all forms of Tay-Sachs present with a cherry red spot. If this section is going to stay, it needs to focus on clinical symptoms and then the testing that would follow - enzyme assays and molecular.

  The section has a mention of hepatosplenomegaly. Added a way to disambiguate. ~~Ebe123~~ → report 17:42, 30 June 2012 (UTC)

  It still only focuses on infantile onset disease. The absence of hepatosplenomegaly is not considered a distinguishing factor between Tay-Sachs and Sandhoff, most infants with Sandhoff do not have it either. The cherry red spot is a feature of the disease, but to imply such a focus in the diagnosis section is incorrect. Canada Hky (talk) 23:54, 30 July 2012 (UTC)

• Still nothing about juvenile and adult onset forms, beyond the information I have added. I try to avoid rewriting sections that others have nominated for GA.Canada Hky (talk) 23:54, 30 July 2012 (UTC)

• Microscopic analysis of retinal neurons is not used for the diagnosis of the disease. It might be seen in individuals of the disease, but it is not a commonly used diagnostic tool. Literature searches will show a lot more mentions of storage material in rectal biopsy, than retinal neuron cells.Canada Hky (talk) 23:54, 30 July 2012 (UTC)

• The research section seems a little bit overemphasized, although if it is going to stay, it should mention treatments for adult-onset Tay-Sachs, which are actually in clinical trials, as opposed to being largely theoretical.

  Are you talking about Research directions? ~~Ebe123~~ → report 17:42, 30 June 2012 (UTC)

• Yes, that section is either pure theory or attempted treatments, and I would argue has no place in the article. That material could all be summed up in two or three sentences in the treatment section. A mention of enzyme replacement (doesn't work), gene therapy and substrate reduction could all be done there. Canada Hky (talk) 23:54, 30 July 2012 (UTC)

• The most promising research in Tay-Sachs isn't in the infantile form, but the adult form. This is not mentioned at all. Pyrimethamine is in clinical trials for adult onset patients. Canada Hky (talk) 23:54, 30 July 2012 (UTC)

• While I realize this article nominally has "A class" status, in my opinion it needs a lot of work. It has a lot of information mashed up and is quite confusing to read (and I did post-doc research in Tay-Sachs and Sandhoff disease). There seems to be an attempt to cram in everything related to Tay-Sachs, rather that building up the key information about the disease, even if it ends up leaving out a few references here and there (a sentence about founder effect should not need two different citations throughout it).

  I would like some specific advice, as I do not know where people will be confused while reading. ~~Ebe123~~ → report 17:42, 30 June 2012 (UTC)

• The article is too focused on the infantile form. It mentions the late onset and juvenile onset forms initially, and then all following sections relate almost exclusively to the infantile form. Canada Hky (talk) 23:54, 30 July 2012 (UTC)

• If the evidence has decided that the founder effect explains Tay-Sachs, separate bullet points for the other theories have no place. They have been supplanted, and deserve a passing mention if at all. Canada Hky (talk) 23:54, 30 July 2012 (UTC)

• In the epidemiology section, there should be mention of the change in incidence with the advent of carrier testing. After the incidence data in different communities, this information is far more important than largely debunked theories about heterozygote advantage. Canada Hky (talk) 23:54, 30 July 2012 (UTC)

Canada Hky (talk) 18:04, 17 June 2012 (UTC)

As my computer is broken, I will come back to this GA nomination in 1 week or so. Good suggestions though. ~~Ebe123~~ on the go! 10:45, 18 June 2012 (UTC)

I'm back. ~~Ebe123~~ → report 19:23, 22 June 2012 (UTC)

The review has been open for two months, and it's been over a week since the last edit here and longer than that in the article itself. Progress on improving the article to GA requirements has stalled, and the list of issues presented by Canada Hky seems quite formidable for the typical one-week hold. Will there be significant work done soon? BlueMoonset (talk) 12:36, 30 June 2012 (UTC)

I am happy to give Ebe123 more time. Part of the delay has been my fault. Doc James (talk · contribs · email) (if I write on your talk page please reply on mine) 19:48, 16 July 2012 (UTC)

Lets just close this GAN, as it is inactive. ~~Ebe123~~ → report 19:33, 30 July 2012 (UTC)

Sure the article however is very close. It is comprehensive. Well written. Well illustrated. Just needs a bit of work on the references IMO. Renominate when you have more time. Doc James (talk · contribs · email) (if I write on your talk page please reply on mine) 19:55, 30 July 2012 (UTC)

Single founding family for French Canadian mutation

There are are two separate mutant alleles that cause Tay-Sachs disease in French-Canadians, see [www.scirp.org/journal/PaperInformation.aspx?paperID=21701 Tay-Sachs and French Canadians: A Case of Gene-Culture Co-evolution?] so how can the article say "pedigree analysis has traced the French Canadian mutation to a founding family that lived in southern Quebec in the late 17th century.[11][12]". How can there be one founding family if there are two mutations ? Overagainst (talk) 10:11, 11 September 2012 (UTC)

Prevalence in French Canadians

The lead says it's only in the population of southeastern Quebec that French Canadians have a carrier frequency similar to that seen in Ashkenazi Jews. this is, roughly speaking, correct (see [www.scirp.org/journal/PaperInformation.aspx?paperID=21701 Tay-Sachs and French Canadians: A Case of Gene-Culture Co-evolution?]). However the main body of article misleadingly says; " A mutation unrelated to the predominant Ashkenazi/Cajun mutation, consisting of a long sequence deletion, occurs with a similar frequency in families with French Canadian ancestry,", the error is repeated in the 'Epidemiology' section. Overagainst (talk) 10:52, 11 September 2012 (UTC)