Talk:Leukodystrophy

Bibliography Sources

Pouwels, P. J. W., Vanderver, A., Bernard, G., Wolf, N. I., Dreha-Kulczewksi, S. F., Deoni, S. C. L., Bertini, E., Kohlschütter, A., Richardson, W., ffrench-Constant, C., Köhler, W., Rowitch, D. and Barkovich, A. J. (2014), Hypomyelinating leukodystrophies: Translational research progress and prospects. Ann Neurol., 76: 5–19. doi: 10.1002/ana.24194

Graziano AC, Cardile V. History, genetic, and recent advances on Krabbe disease. Gene. 2015 Jan 15;555(1):2-13. doi: 10.1016/j.gene.2014.09.046. Epub 2014 Sep 26. Review. PubMed PMID: 25260228.

Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment. Brain Dev. 2009 Aug;31(7):485-7. doi: 10.1016/j.braindev.2009.03.001. Epub 2009 Mar 29. Review. PubMed PMID: 19332366.

KateSage (talk) 07:06, 16 February 2015 (UTC)

GOAL OF CONTRIBUTIONS

There is a lot of information on leukodystrophies so we mainly focused on symptoms, causes, pathophysiology, and treatment but added some information on epidemiology and diagnosis. Also, there are many types of leukodystrophies so we tried to cover what generally is seen/done and added some specifics that pertain to individual types. — Preceding unsigned comment added by Vickimu2015 (talk • contribs) 16:08, 7 April 2015 (UTC)

In terms of sources, focusing on multiple types of leukodystrophy meant that we had to use many sources to be sure to generate a large range of information. Instead of going into a ton of very specific depth in the causes and pathophysiology sections (material that would be better located on the specific leukodystrophy pages), we focused on providing a descriptive summary of each of the major types and scanned many sources for the major underlying causes/pathophysiology of each. KateSage (talk) 05:02, 8 April 2015 (UTC)

Confused Opening Section of Article, Inccuracies and Inappropriate Reference

There seems to be some confusion in the opening section of this article. The term 'leukoencephalopathy' is used to refer primarily to inflammation of the white matter in the brain. 'Leukodystrophy' refers specifically to imperfect initial growth AND subsequent degeneration of the white matter, though leukoencephalopathy is often a secondary symptom (notably in metachromatic, krabbe and adrenoleukodystrophy). Myelin in the CNS is not composed of oligodendrocytes; oligodendrocytes are cells which produce myelin - the fatty insulating material around nerve axons. Inflammation is not always the root cause of leukodystrophy (though it may exacerbate it): in krabbe disease and adrenoleukodystrophy, demyelination will continue once a certain threshold of degeneration has been reached, even when anti-inflammatory chemicals have stopped or reduced the inflammation.

'Known causes of Leukodystrophies include radiation and certain chemotherapeutic treatments for cancer.'

This makes the article unclear and reads like a contradiction, as the separate section for causes correctly states that most leukodystrophies are hereditary (although according to the United Leukodystrophy Foundation, head trauma and random mutations rather than hereditary ones, may give rise to leukodystrophy in vary rare cases, and conventional leukodystrophic symptoms/disorders can be worsened through physical stressors, presumably including radiation and chemotherapy). The genetically encoded enzyme mutations for krabbe, metachromatic, Pelizaeus-Merzbacher and adrenoleukodystrophy are particularly thoroughly characterised. Lastly, it is inappropriate to cite an article primarily on schizophrenia as a reference for information about leukodystrophy - due to it not being the disease of focus, any information will be less specialised, and may disagree with expert neurological opinion in the field. Though the two conditions may be comorbid in some individual cases, they are not notably so, and are unlinked.

Response to Review 1

Thank you for the review, it was quite informative and led us to do some more research into the points you raised above. Firstly, the sentence describing radiation and cancer treatments was removed as it was originally left in the article from before we began to edit. Next, upon searching the United Leukodystrophy Foundation page, we could find no evidence of head trauma and stress being a cause for myelin degeneration in leukodystrophy. Finally, the source on Schizophrenia was also a part of the original article but we chose to keep it because of the directly related, thoroughly explained information pertaining to a general statement which we agreed to be relevant. Theactualdonald (talk) 00:29, 23 April 2015 (UTC)

Primary Reviews

As stated by the previous people that reviewed this article, this was well done and organized very well. I will try not to repeat too much of what others have said by stating other things that could be fixed. Just for the sake of the reader, I feel that some explanation in the article could be removed (such as explaining myelin in the first paragraph and other words you have links for). The purpose of the links is so that if the reader doesn't know what the term means, they can just look at the attached link and get more informed on the process you may be talking about. It's not something major, but it kind of feels repetitive that you explain it after the link does a decent enough job to explain certain words. I would also recommend re-reading the article and checking for minor grammar errors such as mixing do with due and little words such as those. I would also recommend adding a link for MRI since the common individual probably has heard the term but doesn't know what the scan actually does. I would also recommend a link for pathophysiology, again the average reader probably doesn't know what this means. I enjoyed the pictures added to explain the inheritance, many times explaining such a process is confusing, but as they say, a picture says a thousand words. For the current research section, I would recommend explaining it a little more. I know it is still going on, but have they come up with any conclusion with the information they have currently collected? Again I don't know if this is at all accessible right now since it is still being studied, but if it is, I think it would be a good addition to the article. Overall great job! Josecarlos44 (talk) 15:28, 21 April 2015 (UTC)

Response

Thanks so much for your input! It included a lot of valuable advice on how we could improve our page; our group found all of it extremely helpful. We agreed that there was some extraneous information (particularly about the myelin) that we ended up cutting out for the sake of clarity. We also re-read the article checking and correcting for spelling and grammar and found the grammatical errors you noticed. Thanks for the catch! Additionally, we also added wiki links for "MRI" and "pathophysiology" like you suggested. In terms of the section on current research; this short paragraph was already there prior to our work. However, we decided to keep it since it provided some interesting information. Unfortunately, because there was a lot of really good information on this topic and almost nothing written on the page about symptoms, causes, pathophys, or treatment, we decided to focus more on those topics. We did keep our eye out for information relevant to this section while doing our research, but nothing stood out as new, different, or conclusive. Thanks again for your suggestions, they were extremely helpful and relevant! KateSage (talk) 01:00, 23 April 2015 (UTC)

The article contained valuable information on the topic. I was able to learn plenty of leukodystrophy. However, I do think it can be improved. To make the article well written, I suggest going back to the “Pathophysiology” section as some of the sentence structures were not written clearly. I also think it be better if you included the word leukodystrophy in greek earlier in the intro rather than later. I found the “Types” section confusing. If you could clarify that a bit more or give some explanation of what that section is about,that would be great. After reviewing Vanishing White Matter Disease in a Spanish Population article, I would consider it as a secondary source. I noticed that in your wiki page you only cited one thing using the article, but the article had valuable information that could have been used. For example, you could mention about the MRI-based approach to the diagnosis of leukodystrophies made by Schiffmann and Van der Knaap in 2009, the evidence they found between siblings with leukodystrophy, and how molecular genetic studies confirm 90% of affected patients. The article also talked about eIF2B5 gene and the wiki page did not mention this gene. I suggest citing more on the wiki page using this article. I know the group had plenty of information on leukodystrophy to work with, but citing more on the Vanishing White Matter Disease in a Spanish Population article and going back and re-reading the wiki page will make the page a good article for Wikipedia. Dfernandez14 (talk) 00:30, 13 April 2015 (UTC)

Response

Thank you for reviewing our article and providing feedback! We have reviewed the "Pathophysiology" section and made any changes we thought were needed to improve the sentence structure and overall flow of the article. We also took your advice and moved the greek definition of leukodystrophy earlier in the article. We also clarified the "types" section to make it evident that that section specifies the different types of leukodystrophies. Regarding the Vanishing White Matter Disease in a Spanish Population article, Vanishing White Matter Disease is a certain type of leukodystrophy that we did not focus on in terms of causes as we focused on more prominent types of leukodystrophies. Vickimu2015 (talk) 00:40, 23 April 2015 (UTC)

The article is nicely written and formatted well. The language is concise and to the point, while still giving appropriate explanation for topics that most readers would not already have an understanding of. The effective use of wikilinks and pausing to define a new idea provide the reader with a smooth transition through the more nitty-gritty parts of the article. The grammar seems to me to be in order, though a quick read through might prove useful to catch a few places where single words may have been missed. The list containing the known types of leukodystrophy is a very nice addition to the top of the page, especially since many people going to this page may have a specific disease in mind. I feel that the authors effectively gave an overview on the basics of the disease that are common to the different subtypes of the disease. The article is very informative and the information provided enough to get a good background and a start to learning the intricacies of a specific subset of leukodystrophy.

Looking at source #25, about the current research, it is clear that the information written in the section corresponds well with the source. The source itself is very interesting and exciting research that may have a significant impact in the medical world in the near future. Bscheidt (talk) 19:18, 12 April 2015 (UTC)

Response to Review

Thank you for your feedback and providing us with ways to improve our article. We did a quick read through our article to fix the grammar mistakes that we caught. We also adjusted a few sentences to fix their structure and we also took out a few sentences that did not belong. Thank you again for your input. Morzelek (talk) 00:45, 23 April 2015 (UTC)

The article in general seems to be well written. The language is not too technical, and in cases where topics may have been ambiguous to non-scientific readers there was a brief description provided for clarity. I was glad to see that there was not a focus on each individual disease, but more so on the group of diseases. This feature made the article more concise. However, the individual diseases seemed to focus on the defects and damages at the cellular and brain levels, with a really big focus on genetics. One thing that would have made this more practical would have been to include how people’s daily lives are affected by these diseases, and what happens phenotypically. After reviewing the source about Adult-onset Autosomal Dominant Leukodystrophy (source 2), I would have liked to see more information about it, maybe even its own section. It gave a lot of relevant information about localized brain regions that show more or less damage to white matter. It also shows how findings specific to this disorder prevent it from being confused with diseases such as multiple sclerosis. It would have been interesting to see this topic expanded more. But, as far as references in general, I was able to see that you used sources that were specific to what you wanted to add to the article, which were articles pertaining to pathophysiology and each of the individual diseases that fall under this somewhat broad topic. The only images that would contribute to this page would ones of people have the disease, mainly showing the lifestyle changes necessary to live with these disorders.Nqualls (talk) 05:06, 14 April 2015 (UTC)

Response

Thanks so much for your input, our group thought your suggestions were really helpful and insightful. In terms of the phenotype of people with leukodystrophy, and how their daily lives are affected, this is something we tried to achieve through our "Symptoms" section. We included the symptoms people experience on a daily basis and we thought these symptoms spoke for themselves in terms of how they affect the lifestyles of individuals living with leukodystrophy. In response to your last comment, it was also challenging to find pictures of this since the visible, physical changes in a person can only be seen via an MRI, and we included this at the beginning of the page. We would have liked to add more from that article as well, but since the majority of the information from that article was specific to Adult-Onset Leukodystrophy, we thought it would be better suited to that disease's specific wikipedia page. Instead, we tried to focus broadly on the category of leukodystrophy in general, but decided to provide split them up for the pathophysiology since they all were very unique. Thanks again for all your comments and suggestions, we found all of them very relevant and helpful in making our page better! Thanks! KateSage (talk) 01:13, 23 April 2015 (UTC)

Secondary Reviews

This article is extremely descriptive and impressive. Each section has a lot of information that pertains to the subject of Leukodystophy. Because the article is so detailed and in depth, some of the information provided does happen to become very technical. There are a few sentences within the 'Pathophysiology' section that were a little difficult to read through because of the complexity of the different diseases listed. However, the format of the 'Pathophysiology' is great because of how each different disease is sectioned off. With that being said though, all of the words that were in need of more information had hyperlinks already provided. All of the sections were direct with all of the information provided and none of the information appears to be useless or unnecessary, nothing appeared to be repetitive. All of the pictures provided are great and make the page appear even more interesting and informative. Each section has the correct amount of detail and the page as a whole flows as one unit. Good research and good writing! MadelineJuliette (talk) 16:43, 7 April 2015 (UTC)

I think this article is really well done because the language is kept clear and easy to read. There are a few sentences in the intro which appear to be missing an occasional word that would make it easier to read (ex. The paragraph that starts as "The majority of types involve the inheritance.." might be better if you say the majority of leukodystrophy types as it is a little unclear what types is referring too). I'd also just go back though and make sure you have commas where they need to be. The article is well-structured and I like the public awareness section; that's really neat. Good job! MekMU (talk) 03:56, 8 April 2015 (UTC)

Secondary Review 3

Well done overall. The "symptoms and clinical features" section is a bit hard to read simply because of the wording, so I might attempt to clarify it a bit. In general your writing is a bit more embellished than necessary, and I think that adds bit of confusion. Try to keep it simple (cut down on the long sentences, transition words, etc.). You have really good explanations of things to help the layperson understand.

AndersonKM (talk) 16:12, 10 April 2015 (UTC)

Secondary Review 4

Overall, I think your group did a fantastic job. Your group excellently explained the information in a simple enough way that would allow for a lay reader to understand. Additionally, your formatting of the page is excellent, as it allows for a reader to quickly find the information that he/she may need. You also make great use of illustrations that provide meaningful information to accompany the text. I think your group more than fulfills the six good article criteria. I enjoyed learning more about Leukodystrophy, and I think that your group is in good shape for this project.

Semaj311 (talk) 19:27, 12 April 2015 (UTC)

Secondary Review 5

I thought the entire article was really good. You guys wrote so that everything was clear, but you managed to do so in a collegiate manner. All the info was useful and easily understood even with the technical content of the article. Maybe put a bit of information about each type of leukodystrophy so that the reader can make more connections on you page. 9635wilmota (talk) 22:47, 13 April 2015 (UTC)

Secondary Review 7

I was really impressed with the article overall. I decided to put some focus on reading the pathophysiology since that was a section you all improved. First of all I think the section was really well organized. The lead paragraph of the section very introduces everything else. Also you guys had great use of wikilinks- anything potentially confusing or complicated is linked out so readers can understand all the terminology.Medstudentleigh (talk) 02:50, 14 April 2015 (UTC)

Secondary Review 5

I was impressed with the content of the article overall. As I was reading through it, I thought that you guys did a very good job expressing the complicated nature of the information with out running risk of being too technical. The sections are divided up well and I like the public awareness part a lot! Great idea to do. I would suggest as a group really thinking if you do indeed need every section; I know you guys said in the author's notes that there was a lot of info available- but the article is pretty long. For example, the intro seems lengthy. For the most part, wiki short intros like that are a few sentences. See if that area could be simplified. One other thing that concerned me was that there were only 3 sources mentioned? Maybe I misread that, but maybe try and add some more due to the large content you have in your article... it seems disproportionate. All in all I think that this is a very good first draft- all the necessarily info is definitely there, it is just a matter of trimming stuff down and doing a through editing. Nice job! Mady mads (talk) 02:30, 13 April 2015 (UTC)

Secondary Review 6

The article overall was very good! The introduction provided a lot of information for readers to understand what this disorder does. The information in each of the sections is simple and easy to understand. This would make readers have an easier time to read. The images are perfect for each of the section. All in all, this article is very well organized! Each section is very well explained and provided a lot of information for readers. lusanity1 (talk) 21:48, 12 April 2015 (UTC)

I am a scientist in the field of leukodystrophy research and edited the "Current Research" section to highlight programs funded by the National Institutes of Health (NIH) located in the United States. Leukodystrophy research is broad in scope and the NIH websites provide information about many ongoing programs. This can be quite useful for the general readership as well as people with specific interest in the field as a whole. All the NIH websites contain carefully vetted material. — Preceding unsigned comment added by Jhacia (talk • contribs) 05:03, 29 October 2020 (UTC)

Confusion in the recessive forms

In editing the article (and this subject is not too familiar to me), there seems to be some inconsistency in the way the various types are being referred to as autosomal vs x-linked, particularly with Krabbe Disease. Fresh eyes are needed to verify if the article is mischaracterizing inheritance patterns. Quisqualis (talk) 07:04, 25 December 2022 (UTC)

FOLR1 mutations can cause leukodystrophy, too

Hi! I wonder if a mention could be made of Cerebral folate deficiency due to mutations in the FOLR1 gene - the disease often presents with leukodystrophy. Cheers, -CopperKettle (talk) 05:26, 10 October 2023 (UTC)