Talk:Tay–Sachs disease

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Former featured article candidate Tay–Sachs disease is a former featured article candidate. Please view the links under Article milestones below to see why the nomination failed. For older candidates, please check the archive.
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As this article talks way more about the Jews that have the disease, and not the others, I will be adding a neutrality tag. Some instances of it are:

~~Ebe123~~ → report on my contribs. 01:35, 20 December 2011 (UTC)

If you look at the academic literature such as this paper PMID: 12108829 it mentions Jewish people as the carrier state is 10 times more common and thus homozygous individuals would occur in 1 in 3600 as opposed to 1 in 360,000 in the general population.Doc James (talk · contribs · email) 13:23, 28 December 2011 (UTC)
Yes, but there was WP:UNDUE weight there. ~~Ebe123~~ → report on my contribs. 14:27, 28 December 2011 (UTC)

I removed one section that was just poor. But the rest... Doc James (talk · contribs · email) 15:01, 28 December 2011 (UTC)

THE IRISH/ GAELS {? i.e. Inclusive of Scottish possibly other Celtic origin? Is this why the French/Gallic have the trait?} I added a sentence about the Irish based on a couple articles read recently i.e. but maybe I should remove this? Also, presumably this needs more rigorous sourcing and some brief in-article discussion.

Sorry to intrude my thought is we're coming up on St. Patrick's day and probably most doctors aren't looking for this disease in Irish/Scottish Gaels and it might be of some benefit to update this article in time for St. Pat's? There are more pressing concerns, I'm sure - [mrk1971] — Preceding unsigned comment added by (talk) 18:09, 15 March 2012 (UTC)


I suggest that we get this as Wikipedia:Summary Style. Getting Tay–Sachs disease#Genetics, Tay–Sachs disease#Prevention, Tay–Sachs disease#History, Tay–Sachs disease#Society and culture, and Tay–Sachs disease#Research directions. The page is 48,821 bytes long, justifying the splitting. I'm posting this here as I won't be bold here as it's pretty fustrating being reverted for these things. ~~Ebe123~~ → report on my contribs. 19:04, 28 December 2011 (UTC)

Sure I support summarizing and creating Prevention of Tay-Sachs disease etc. with a main link.Doc James (talk · contribs · email) 19:13, 28 December 2011 (UTC)
I will. Also webciting some references. Lets try to get this to GA. ~~Ebe123~~ → report on my contribs. 19:21, 28 December 2011 (UTC)


As some editors have improved the article even more from when it was re-promoted, I suggest that we get get this back. It is getting peer reviewed and I've requested copyediting. This article stands a chance at FA (I think). Apparently, we need 2 uninvolved users to endorse promoting this. So if you're uninvolved and think this article should be A-class, you may sign and comment. You may also participate in the peer review. ~~Ebe123~~ → report on my contribs. 01:46, 22 January 2012 (UTC)

Define uninvolved? - SudoGhost 01:52, 22 January 2012 (UTC)
I interpret "uninvolved" as not making numerous editorial changes. I don't think your one revert to this article disbars you from voting. Cheers, Magister Scientatalk 02:17, 22 January 2012 (UTC)
I guess that it may be changed now, as 2 people have supported, and it's been over a week. No opposes either. ~~Ebe123~~ → report on my contribs. 11:05, 30 January 2012 (UTC)

A-class promotion vote[edit]


  1. After reviewing the article, I support its bid for A status. Magister Scientatalk 02:12, 22 January 2012 (UTC)
  2. Likewise. - SudoGhost 10:15, 30 January 2012 (UTC)



  1. We do not have A class at WP:MED. Thus while it may be increased for other projects it would remain B class for WP:MED. I would recommend that the next step to FA would be a GA nomination which you have already done.Doc James (talk · contribs · email) 03:12, 31 January 2012 (UTC)
    I meant for WP 0.5 assessment here, not the WPMED. A class is better than GA class, and the A indicates for a bit more work before FA, of which I will want for this article. ~~Ebe123~~ → report on my contribs. 11:32, 31 January 2012 (UTC)
    Great as long as that is the understanding. --Doc James (talk · contribs · email) 00:28, 1 February 2012 (UTC)


As there were no (significant) opposes (only a neutral about a specific WikiProject), and on the criteria page, it states nothing about the closing, but about 2 uninvolved reviewers, I'm closing this and setting WP:JEW and 0.5 as A-class. ~~Ebe123~~ → report on my contribs. 11:55, 7 February 2012 (UTC)

Section on management[edit]

We need a section that discusses management and prognosis. Before we had:

There is currently no cure or treatment for TSD. Even with the best care, children with Infantile TSD die by the age of 5, and the progress of Late-Onset TSD can only be slowed, not reversed. Although experimental work is underway, no current medical treatment exists for infantile TSD. Patients receive palliative care to ease the symptoms. Infants are given feeding tubes when they can no longer swallow. Improvements in palliative care have somewhat lengthened the survival of children with TSD, but no current therapy is able to reverse or delay the progress of the disease.

but of course there where no refs... Doc James (talk · contribs · email) 03:17, 31 January 2012 (UTC)

Working on it. ~~Ebe123~~ → report on my contribs. 10:44, 31 January 2012 (UTC)

Have begun copyedit[edit]

Hi. I've begun a copyedit of the article, although grading that I need to do will probably limit me from going further tonight. I've noted three or so places where clarification is needed. (In some respects, it will help that I'm a geneticist; in other respects, it may hurt because I won't see places where someone less familiar with the material would have problems. I will ask for it to be looked over by a non-geneticist copyeditor after I'm finished.) Allens (talk | contribs) 22:17, 3 April 2012 (UTC)

I'm done with my first run-through. I've tagged a number of places for clarification; please take a look at these. Allens (talk | contribs) 12:27, 5 April 2012 (UTC)
I think it's about time I declared the copyediting done for now - I will continue to keep an eye on things during the GA review, to fix anything applicable during that. Allens (talk | contribs) 17:31, 10 June 2012 (UTC)


I don't have time right now to do a full GA Review. I might get to it this weekend, depending on work. Here are a few suggestions in the interim:

  • There are a lot of mentions of "rare" and "more rare" - some referenced incidence data would be an improvement.
  • The genetics section could be rewritten to more traditional standards - there shouldn't be the need for quotes when describing basic recessive inheritance.
Done. Allens (talk | contribs) 02:23, 10 April 2012 (UTC)
  • The "i.e." statements could be eliminated.
I've removed one of them; should the one regarding heterozygosity be done via "– heterozygous –", or what? Allens (talk | contribs) 02:23, 10 April 2012 (UTC)
  • The "clarification needed" and "citation needed" tags could be considered criteria for a quick fail.
Most if not all of those were added by me in the process of copyediting; I would prefer them not be used as reasons for a quick fail, but instead as reasons to delay evaluating the respective criteria. Allens (talk | contribs) 02:23, 10 April 2012 (UTC)
  • The treatment, diagnosis and management sections focus almost exclusively on the infantile form. There are clinical trials for adult onset Tay-Sachs treatment.
There is one sentence about late-onset Tay-Sachs now in the treatment section, and another about research into treatments for late-onset in the research section; are there other drugs under investigation that aren't mentioned? Allens (talk | contribs) 02:23, 10 April 2012 (UTC)
  • The section about hexosaminidase needs expanding. HEXA mutations vs. HEXB mutations, Hexosaminidase A, B & S, etc.

This is a really good article. It needs some work, but this is a complex subject and it is a good start. Canada Hky (talk) 01:23, 10 April 2012 (UTC)

Some comments[edit]

  • Shouldn't hexosaminidase be lowercase in the first sentence?
I'll have to check MOS:LEAD on that. Allens (talk | contribs) 19:03, 10 April 2012 (UTC)
  • Maybe progressive would be a less emotionally loaded word than relentless.
Corrected. Allens (talk | contribs) 19:03, 10 April 2012 (UTC)
  • Adult onset/late onset seem like they should be lowercase.
I had thought I'd caught everyplace where they weren't; I'll take another look. Allens (talk | contribs) 19:03, 10 April 2012 (UTC)
Fixed. (I use a script to spot duplicate links and it didn't there due to a redirect.) Allens (talk | contribs) 19:03, 10 April 2012 (UTC)
  • Seems like it should be "Researchers claimed" instead of claim when discussing the fur trader hypothesis. Biosthmors (talk) 18:43, 10 April 2012 (UTC)
Fixed. Thanks! Allens (talk | contribs) 19:03, 10 April 2012 (UTC)

"Tay-Sachs" without "disease" as colloquial?[edit]

Axl recently added "disease" back to one instance of "Tay-Sachs" that I'd removed it from, calling it "a colloquial phrase" in the edit summary. I'd like to know what the opinions of others are; for mine, I note that NCBI uses the phrase "Tay-Sachs" to refer to "Tay-Sachs disease" in Allens (talk | contribs) 21:43, 13 April 2012 (UTC)

Most literature uses the phrases interchangeably, but for every source that uses one, I am sure one that goes in the opposite direction can be found. The somewhat standard abbreviation for the adult onset form is LOTS (late onset...), ignoring disease completely. I would suggest that introducing the abbreviation "TSD" and using that consistently throughout would be a better solution. Canada Hky (talk) 23:28, 13 April 2012 (UTC)
I have just discovered this discussion by chance. To Allens: it is particularly poor form to start a discussion about one of my edits without informing me. Axl ¤ [Talk] 20:42, 16 June 2012 (UTC)
Given that you'd edited the article, I thought you'd watchlisted it. (The only time I don't watchlist an article I've edited is if I don't care about the matter.) The discussion is about the edit, not you; as far as I am aware, a notification is generally only considered necessary if one is discussing an editor's general behavior, not an edit specific to an article. Allens (talk | contribs) 20:50, 16 June 2012 (UTC)
I have invited WikiProject Medicine to comment. Axl ¤ [Talk] 21:08, 16 June 2012 (UTC)
Good thought. Allens (talk | contribs) 00:22, 17 June 2012 (UTC)
I'm not sure if Allens should have alerted Axl separately, but I agree with Axl that using "Tay-Sachs" without "disease" is indeed a colloquialism. Pubmedhealth uses colloquialisms, but we shouldn't. JFW | T@lk 22:50, 16 June 2012 (UTC)
Don't really have a firm opinion on this, but search engine testing certainly seems to suggest that "disease" almost always follows "Tay-Sachs". NickCT (talk) 05:03, 17 June 2012 (UTC)
"Tay-Sachs disease", in the spirit of WP:MOS (Plain English works best), including WP:JARGON. An article in a general encyclopedia written for a broad readership requires a different tone to many publications on PubMed. —MistyMorn (talk) 12:25, 17 June 2012 (UTC)
  • Tay-Sachs disease should be the default unless or until someone collects a list of precedent use from major reliable sources of Tay-Sachs as a preferred layman term. Right now, such a precedent has not been presented. Blue Rasberry (talk) 16:08, 17 June 2012 (UTC)
  • I saw the note at WT:MED. I don't think that there's any compelling need to specify "disease", except in the first use. It's a bit like arguing over whether you should always spell it out or if it's okay to use an initialism. IMO "Tay-Sachs" is no better or worse than "TSD", which we would commonly accept. WhatamIdoing (talk) 03:57, 18 June 2012 (UTC)
  • Pubmed Health and the ICD9 still say Tay-Sachs disease [1] would like to see evidence of the literature doing this before we follow.Doc James (talk · contribs · email)(please leave replies on my talk page) 20:03, 22 June 2012 (UTC)

GA Review[edit]

This review is transcluded from Talk:Tay–Sachs disease/GA1. The edit link for this section can be used to add comments to the review.

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

Will review[edit]

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; Shapiro, BE (2004 Sep). "Tay-Sachs disease.". Archives of neurology. 61 (9): 1466–8. PMID 15364698.  Cite uses deprecated parameter |coauthors= (help); Check date values in: |date= (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.  Check date values in: |date= (help)
    As above. ~~Ebe123~~ → report 10:58, 11 May 2012 (UTC)

Further comments[edit]

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[edit]

  • 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. James (talk · contribs · email) 12:45, 11 June 2012 (UTC)


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.[1]

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


  • 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 ""
  • Here is another primary research paper ""
  • As is this ""
  • 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[edit]

  • 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[edit]

There are are two separate mutant alleles that cause Tay-Sachs disease in French-Canadians, see 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[edit]

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 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)

Heterozygote advantage[edit]

My (admittedly cursory) reading indicates that a) there is a widespread idea that Tay-Sachs provides heterozygote advantage in the form of resistance to tuberculosis, and b) this idea is not actually correct. As well, the article's edit history and talkpage archive indicates that (a) has been added to, and removed from, the article more than once.

I propose that the article contain a brief section explaining the speculations about tuberculosis, and, immediately thereafter, an explanation of why it's wrong. "In <year>, <researcher> proposed that Tay-Sachs provides heterozygote advantage in the form of increased tuberculosis resistance, because of <reasons>; however, in <year>, <other researcher> showed that this is not the case, because of <reasons>. Other possible forms of heterozygote advantage for Tay-Sachs have been proposed, including <X> and <Y>." (, for instance, proposes that TS carriers have "a higher rate of neuronal growth, and thus greater learning capacity"; I have no idea if it's right.) DS (talk) 13:54, 25 March 2014 (UTC)

Unlinking predatory journal. Guy (Help!) 19:43, 12 March 2017 (UTC)

The article needs some work about Irish cases. POV[edit]

The Irish are given one passing, unsourced mention. Sources:

  • Are you of Irish descent? Are you aware you may be a carrier for Tay-Sachs Disease? If you have at least 3 Irish grandparents and are 18 years or older, you may be eligible to receive carrier screening for Tay-Sachs disease at no cost to you.[2]
  • Every person of Jewish, French-Canadian, Cajun or Irish heritage should be tested for Tay-Sachs carrier status.[3]
  • “I thought Tay Sachs was a Jewish disease,” says Cathy. The Mitchells, who live in Langhorne, then learned that this deadly inherited disease, which cripples and kills, is common among people of Irish descent. As many as 1 in 50 Irish Americans is a carrier.[4]
  • "It is not an exclusively Jewish genetic disease," says Miriam Blitzer, professor and geneticist at the University of Maryland School of Medicine, who says most cases today involve non-Jews. "We have been trying to teach that for years."[5]
  • The incidence of Tay-Sachs among babies born to Jews in North America has dropped 95 percent since efforts began to combat the deadly disease that strikes Jews of Ashkenazi descent disproportionately. In fact, most of the handful of babies born each year with Tay-Sachs are not Jewish, according to Dr. Michael Kaback, director of the California Tay-Sachs Disease Prevention Program in San Diego.[6]
  1. ^ Escolar, M L; Poe, M D; Provenzale, J M; Richards, K C; Allison, June; Wood, Susan; Wenger, David A; Pietryga, Daniel; Wall, Donna (2005). "Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease". New England Journal of Medicine. 352 (20): 2069–2081. doi:10.1056/NEJMoa042604. PMID 15901860. 
  2. ^ "IRISH TAY-SACHS CARRIER STUDY". National Tay-Sachs & Allied Diseases Associaton of Delaware Valley.  line feed character in |publisher= at position 37 (help); External link in |website= (help)
  3. ^ "Genetic Diseases:What Is Tay-Sachs Disease?". National-Tay Sachs & Allied Diseases Association.  External link in |website= (help)
  4. ^ "The Irish Risk for Tay-Sachs Disease". Irish Philadelphia.  External link in |website= (help)
  5. ^ By AMY DOCKSER MARCUS (June 25, 2012). "Study Looks at Irish Risk for a Rare Fatal Disease". The Wall Street Journal.  External link in |website= (help)
  6. ^ ABBY COHN (June 13, 2003). "Now more common in non-Jews: Years of genetic testing virtually erase Tay-Sachs". Jewish news weekly of Northern California.  External link in |website= (help) (talk) 01:35, 30 April 2014 (UTC)

Reminder. Do not remove NPOV tags until the situation is corrected. (talk) 20:58, 26 June 2014 (UTC)