Here are some more Questions and Answers:

 

From Amanda (wres_206@noeca.ohio.gov) we have:

>Hi my name is Amanda Simmms and I am doing a report on Huntingtons disease and I need to know which part of the brain does this disease effect? If you can answer this for me I would be greatful. Thank you.

 

Dear Amanda;

The primary areas of the brain that are affected in Huntington's disease are the caudate nuclei and the putamina.

From Leona (leona lambert <moleona@hotmail.com) we have:

>Dear Dr. Dubinsky

>Hi, my name is Leona Lambert from Bainville, Montana, and I'm doing a project in math were we have to look up certain diseases and I picked Huntinton's Disease, and I saw you web-site, and thought you could help. Would you please send me the following information: What are the symptoms? How frequent does it occur? The probability that a parent may pass the disease onto their children? and Is there a cure for this disease. My e-mail address is moleona@hotmail.com. Thanks, I would appritiate a response as soon as possible. Hope you have some information for me.

>Thanks,

>Leona

Dear Leona;

Most of your questions can be answered if you read the site more closely. The symptoms are descrined in great detail there.

For the other questions:

The chance that the gene will be passed on from a parent to a child is 50% for each child.

There is currently no treatment for HD, just symptomatic treatment.

From Elise (thekings@nbnet.nb.ca) we have:

>Hi

>My name is Elise and I am from New Brunswick, Canada. I am in 2nd year Nursing at UNB and was wondering if you could tell me what type of disorder is Huntington's Disease? (ie, chromosomal, single gene..etc)

>Thank You

>Elise

 

Dear Elise;

You may want to spend some more time reading our web site about HD.

HD is an autosommal dominant disorder due to an unstable trinucleotide repeat of the INIT 15 region on chromosome 4.

From Heather Anne Ayer(<110359@carlow.edu) we have:

>Hello- I am currently a junior in college and I am doing a research assignment on HD for my Genetics class. We need to find twenty different sources (and believe me your sight is already one of mine) I was wondering if you knew any good sources that I could use that deal with strictly the GENETICS of HD. Basically all the ones I have found say the same thing. Thank you for your time Heather A. Ayer

>email : 110359@juliet.carlow.edu OR h_ayer@hotmail.edu

 

Dear Heather;

Try going to the National Library of Medicine (www.nlm.nih.gov) and running a MedLine search on HD. Also you can go to the OMIN site (link is on my page) for the HD gene and more information.

From Jos Verwimp (jos.verwimp@skynet.be) we have:

>I'm a student from Belgium. I want to ask you which different psychiatric therapys are commenly used for Huntington's Disease ? I hope you can help me. Thanks!

People with Huntington's disease frequently have problems with depression, anxiety, and obsessions. As the disease progresses many also have problems with, delusions, paranoia and hallucinations.

The medications used in the treatment of the psychiatric manifestations of HD are similar to those used for people who do not have HD. The main exception is that when there are significant problems with paranoia oneof the newer more selective antipsychotics (quetiapine HCl or respiridone) work better than the older medicaitons (e.g., haloperidol).

Good look on your report.

From Francine Ouattara (francineouattara@yahoo.com) we have:

>Hello, my name is Francine and I am doing a research paper on HD. I am looking for some kind of informations that I couldn't find on any magazines or newspapers. Ok,my questions are mostly about race. Who are the most likely to get HD? Black or White? and what are the statistics if you have any? Thank you very much and i hope to receive the informations the soonest!

>Francine

 

Dear Francince,

HD has been reported in all ethnic and racial grouips with the possible exceptions of Australian Aborigines and African Bushmen. In these groups the disease may not have been recognized. There is a significant founder effect from the ancestor with the original mutation for each pedigree. Where the founder has been a male, often times he was a traveler and fathered many children with many different women.

From Nyssa (dnkts@ibm.net) e have:

>hi there

>I have just thought up this big question, if you had huntington's and had no drugs, would it be painful, besides the thought that you cannot control your actions?

>thanks,

>nyssa

>a freshman in Kuala Lumpur, malaysia

 

Dear Nyssa;

Your question is very insightful. Being aware that you can not control your actions can be very distressing. Being in a supportive environment is the best resource for dealing with HD. The movements and the disease itself are not painful. However, with any condition characterized by excessive movements and clumsiness, there is a propensity to injure oneself when falling or hitting against an object (e.g. bed, table, door way) and there is also the development of joint and muscle problems from the constant movement.

I hope that this answers your question.

From Marianna Horz (heatherly@tamu.edu) we have:

>Hi Dr. Dubinsky,

>Hello, my name is Marianna Horz and I am from College Station, TX (Texas A&M University). I was just reading through your site and was so amazed at how much information I was able to find. I just wanted to say thanks, it is a great thing! I am writing a paper and just had one quick question. I understand that there is no known treatment for HD, but I need to know why there isn't one. What is the reason that scientists are having problems coming up with a cure. I realize this is an akward question, but my professor wants me to write it in my paper. I f you have any information, please let me know. Thanks, Marianna Horz.

>My e-mail address is heatherly@tamu.edu

Dear Ms. Horz,

Thank you for the kind review of my site. In 1983 the marker for the HD gene was located. In 1993 the gene was cloned. By 1998 three different gene products were defined and their modes of action have been defined. Now we have to find out how to block the effects of the HD allele while preserving the function of the normal INIT 15 allele. This is quite difficult and is why there is no cure yet for HD.

From Frances (flancy@gurlmail.com) we have:

>Mr. Dubinsky:

>I am a seventh-grader and in my elective class, we are doing a mock trial between a company and a man of thirty years with HD. The man did not know he had HD until he agreed to a genetic test. (He was adopted when he was young) Now the company does not want him. I need to know:

>Should he keep working?

>Is there any difference between Asians with HD and other races with HD? What chances does his six-month old son have of inheriting the disease? What is the best way to treat this disease event though he hasn't shown the symptoms yet? What are the chances of the symptoms occuring very soon, say 1-3 years?

>Thanx so much,

>Frances

>PS. My email is flancy@gurlmail.com

Dear Frances;

This would be a very interesting case to try. The company has screened for genetically based neurodegenerative disease( or disease, who knows what else they tested for?) apparently without adequate consent or information to the job applicant. Then they discriminated in hiring him based on the genetic test. The company's best bet is to take out their checkbook and then the potential employee retires in wealthy luxury.

It is against the law to test for genetically based diseases without the consent of the person being tested. There is abundant medical literature showing the potential harm (e.g., suicide risk, depression) when a person is tested for the HD gene with their knowledge and while participating in counseling about whether or not they have HD. This breach of employment law is similar to when a personnel officer is interviewing a woman who is noticably pregnant. The personnel officer can not ask the following questions: when are you do? how soon will you return to work after you give birth? and why should I hire you if you are going to stay home with your baby anyway?

The age of onset question is difficult to answer. Based on the number of CAG repeats the expected age of onset can be calculated within a 10 - 15 year range or longer depending on the number of repeats.

HD is clinically the same no matter what the ethnic background of the person is.

His son has a 50% chance of inheriting the HD gene from his father.

Currently there is no treatment that will forestall the onset of HD.

I hope that this help you in your trial. Please let me know the verdict.

Yours,

From Bruce Collier (collierb@terrier.brevard.k12.fl.us) we have:

>In the discussion of the genetics of Huntington's Disease I have not seen any mention of condition resulting from the homozygous gene pair for Huntington's. Is that a lethal condition? Is there any distinction between the heterozygous and homozygous configuration?

>Thank you.

>M. Bruce Collier

 

Dear Bruce;

Your question is very insightful. The homozygous condition is felt to be clinically and phenotypically the same as the heterozygous condition.

From Karen Andrea Allicock <antigone@UDel.Edu) we have:

>I am a student at the University of Delaware. My friend and I are working on a debate on Huntington's disease. My friend e-mailed you previously about an activity for the prsentation. I know that if one parent carries the HD gene, their offspring have a 50-50 chance of inheriting the HD gene. My question is what are the offspring's chances of inheriting the gene if both parents carry the gene?

>Also, we were a bit unclear on how the cognitive problem activity with the loud music was supposed to be carried out. It would be appreciated if you e-mailed me back as soon as possible with this information. Thank You!!

>Karen Allicock

>antigone@udel.edu

Dear Karen;

The music is too make it hard to concentrate on the task at hand. Two different types of music both played at loud volume make it difficult for people with normal cognitive abilities to concentrate.

For the inheritance question: If both parents are heterozygous for the HD gene (one HD allele and one normal allele), each child has a 75 % of getting HD (50% heterozygous and 25% homozygous. Clinically heterozygotes and homozygotes for HD look the same.

Good luck on your presentation.

From (sfrs1@bellatlantic.net) we have:

>I am a student at university of Delaware and I have to do a debate on Huntington's disease. I was looking for a class activity to show the other students how huntington's disease affects the brain. I do not know if you have any suggestions.

One particular problem that people with HD have is a cognitive problem: not being able to follow a sequence of instructions against a noisy background.

One idea would be to develop a list of instructions for a task that must be done in order. Scramble the order of the cards slightly (keep the beginning and end the same but rearrange the middle) and then have them try to complete the task against a background of two different and unpopular loud pieces of music.

Please let me know how this works out.

From Miep Gies (heyakitty@hotmail.com) we have:

>Dear Dr.ummmmm(I don't know your name), I found your site on Huntington's disease very helpful, but I just have few questions for a school project.

>1)Is there a Scientific name for Huntington's Disease? 2)Do you have any statistics on Huntington's Disease? 3)Do you by any chance have any pictures of people that have Huntington's Disease that I may use for my project? If so, will you please email them to me?

>Thank you!

>Emily Wang

 

Dear Emily;

My name is Richard Dubinsky, and my name is found at the bottom of most of the pages of the web site.

The scientific name for the disease is Huntington's disease.

The statistics can be found in the web site, esp. the school report page and unfortunately I do not have any photographs of people with HD on the site.

Good luck Emily,

From Darcey Perin (perin@indiana.edu) we have:

>Dr. Dubinsky,

>I am currently a student at Indiana University, taking a topics class in Neural Bases of Human Behavior. While writing a paper on Huntington's Disease, I happened upon your page. Although I am done with my report, I am interested in what you wrote about grandchildren having a 25% chance of getting the gene (or lack there of) responsible for the onset of Huntington's Disease. In my lecture class we were told that HD does not skip generations. If your parents have the disease, you have a 50% chance of getting it, if you do not have the disease your children are not at risk. I am just curious as to which is correct, or if I just read your answer incorrectly. I am not in a hurry for an answer, but would be greatful if you could email me the information I am asking for, as soon as you have the time. I will be unable to go back to your site, due to finals and papers due soon, so if you could email me personally, I'd apprieciate it.

>Thank you.

>Darcey A. Perin

Dear Darcey;

The risk for each child is 50% the risk for each grandchild is 25% UNTIL it is known whether the parent of that grandchild has the gene or not. If they have the gene then the grandchild's risk becomes 50%, if not the grandchild's risk is 0%.

You are correct in that there are nor skip generations. A person is gene positive at the time of conception, but often times is not symptomatic until after they have decided to have children. If a person who is gene positive dies after they have had children, but before they were old enough to be symptomatic of HD, then there would be the appearance of a skip generation.

In reply: Darcey Perin <dperin@indiana.edu>

Thanks for getting back to me, and clarifying the 25% heredity factor. I understand what you meant now.

Thanks again.

Darcey Perin

From (SPZeroBC@aol.com) we have:

>Hello, I am a n eighth grader doiung a research paper on genetic diseases.

>Can you please answer these two questions?

>1> What are the specific treatments or drugs given to the patients for their symptoms?

>2> What are some of the tests scientists are running to find the cure or the gene at faults' normal function?

>Thankyou

I assume that you are asking these questions in relation to Huntington's disease.

For the choreiform movements: haloperidol, tetrabenzine (not available in the US), clonazepam.

For depression: selective serotonin reuptake inhibitor class of antidepressants (e.g. Paxil).

For paranoia and hallucinations: haloperidol, quetiapine, respiridone.

For anxiety: alprazolam, clonazepam.

Treatment must be individualized for each person with HD.

Research is being concentrated on the gain of function that the HD gene imparts to the cells in the nervous system. This additional function eventually leads to the death of the neurons in the caudate and putamen.

Good luck on your report.

From Garth (thegarth@erols.com) we have:

>Mr. Dubinsky,

>Thanks for taking the time to answer my question! I'm a senor in hich school in Washington, DC, and I need some help with a genetics project. In a 5+ page report, I am trying to explore the ethical and moral aspects of Huntingtons. I think that the best way that I could explore this topic is with an eye to the future and possible problems/solutions. Currently, I am interested in issues such as health-care ethics (what should be done to keep HMOs from excluding HD high-risk cases), employment discrimination (I know that this is illegal, yet it is inevitable in a society increasingly focused on perfection). Can you suggest any other aspects that I might want to explore? I'm sorry that this is a broad topic, but I am having trouble finding interesting and relevant specifics.

>Thanks, Garth

>P.S-> It's great that you have set up a page for students worldwide to learn about this disease.

 

Dear Garth;

There are many ethical areas that you can explore. For example, of the aspect of job discrimination, DNA can be extracted from skin cells let on a fingerprint. Therefore, one can obtain DNA and look at a person's genetic make-up without the overt step of getting a blood or saliva sample. Each of us carries an average of 6 genetic burdens. Some are autosommal dominant and completely penetrant like HD, others are only mildly penetrant like dystonia (DYT1) or some forms of cancer. Question: can or should a potential employer be able to screen and to deny job offerings to qualified candidates who will be subject to genetically based diseases years or decades after their employment?

From the standpoint of having children: Should people with HD or those who are HD gene positive be allowed to have children, even though 50% of their offspring will not have the disease?

Can health care providers (who operate on the concept of shared risk) be allowed to deny coverage, or to offer more expensive rate to those who are at risk, or who will certainly develop genetically based diseases?

Good luck with the report and let me know what happens.

Some more from Karen Andrea Allicock (antigone@UDel.Edu)

>I am the student from the University of Delaware who inquired about Huntington's Disease earlier last week. The activity with the loud, confusing music worked out well. Thank you very much. Now we have another problem. Our class is not a very responsive class. After our presentation, we have to have a ethical discussion on a controversial aspect of Huntington's Disease. Every issue we bring up in class is considered "not controversial enough to discuss" because the class is so one-sided. When I say this I mean the class pretty much has the same view on these topics. Please help. Are there any controversial issues present in the Huntington's Disease area or even the testing area? What would be the hottest topic? What would be the best topic that will bring about different opinions from the class? This is very urgent, so it would be appreciated if you e-mail me back as soon as possible. My class is at 12:30pm eastern time. Thank you so much for your help. It is much appreciated.

>Karen Allicock

>antigone@udel.edu

Dear Karen;

I regret that I was not able to reply to you before your class, but my clinical duties kept me from my Email until 3:25 pm CDT.

A good controversy, sure to always cause a fight, is the idea of presymptomatic testing in either or in a fetus. The latter is only performed if the parents wish to abort the fetus if it is gene positive. So abortion could be the troublesome area.

For the former idea, the genetics community strongly feels that children should not be tested for incurable adult onset diseases. Their need NOT to know strongly over rides their parents need to know. Many parents whose children are at 25 or 50% risk feel that their kids should be tested, even though that knowledge would certainly affect how they are brought up and their outlook on their own future.

Good luck.

From Margaret P. Sims (maggie@virtualdave.com) we have:

thankyou so much for all of your help! i will keep you updated on my grade. i would especially like to stress to you that i appreciate you quick response.

yours, margaret

From Shannon writing under the name of (Kenjames@alltel.net) we have:

>Dear Dr. Dubinsky,

>I'm a seventh grade student duing a science project on Huntington's disease. Your site has helped me out a lot but I have one question. In my science book, it says that only mutations that occur in sex chromosomes can be passed on to the next generation, but HD occurs in an autosomal gene, and it is still passed on. Is my science book wrong? Thanks for you help! Shannon

 

Dear Shannon;

Any mutation(s) of a gene that are present in the spem or egg can be passed on at conception to the next generation. Following are some simple definitions of the types of inheritance:

Autosommal recessive: a mutated gene is inherited from each parent and the two together cause the genetically based disease. If you have one copy of the bad gene and one copy of the good you are a carrier but do not show evidence of the disease (usually).

Autosommal dominant: a single gene from a parent is passed on to a child (each of who has a 50% chance of getting the gene). In many cases if you have the gene you get the disease (if you live long enough, but in some cases the gene is not completely penetrant.

Penetrance: not every gene that is inherited is expressed. In some cases the other allele (the good one) can suppress the bad allele (disease) and the disease is not clinically evident but can be passed on. Some diseases characterized by reduced penetrance are generalized dystonia and Tourette's (the gene has been cloned for dystonia (DYT 1) but not for Tourettes'). HD has complete penetrance. You get the gene, you get the disease.

Sex linked: in this case the mother passes on a bad gene on the X chromosome. She (like her daughters) has two copies of the X chromosome (one from her mom, one form her dad). If she has a bad gene on one X chromosome the other copy can act as a back-up copy and the disease is not present, but she can pass it on. If she passes it one to her son, who has a Y chromosome and no back up copy of an X chromosome, he gets the disease.

I hope that this helps.

school3.html - Yet even more school questions


This page was last updated on January. 14, 1999.


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KUMC PulseThis home page is supported by the Department of Neurology at the Kansas University Medical Center and by the Huntington's disease support groups.


Suggestions and comments are welcome. Please mail them to me at: Dubinsky@kuhub.cc.ukans.edu