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Question dated July 25, 2005: 
I am very interested in the new chelation drugs VK-28, HLA-20 and M30 which when used in combination can remove iron from the brain and even prevent more iron build up. I have learned that the Technion-Israel Institute of Technology has already received US and World patents and they are negotiating with marketing companies. How can I get information on clinical trials? How can I find out how much longer before they get FDA approval? Will these drugs be available in other countries before they are available in the U.S.A.?
 
Reply from Moussa Youdim, Ph.D. - Professor and Director, Technion-Rappaport Family Faculty of Medicine, Haifa, Israel 
Yes we have developed the compounds in question. They are not ready for clinical studies. At the present we have done significant amount of work on their cytotoxicity in the laboratory studies and we are now performing animal toxicity . We are in negotiation with several companies but nothing has been fully established. I think it will be a few years before we can say they will be in the clinic. It may be that FDA may give us approval at a much shorter time as an orphan drug of need.
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Questions on Deep Brain Stimulation (DBS) dated July 20, 2005:
My son was diagnosed with HSS about 4 years ago. He  no longer does anything for himself and suffers really bad dystonia. Our pediatrician has told us about Deep Brain Stimulation. Please, could you tell me more about this procedure.

My son was diagnosed with HSS at 10 years, and recently we have been offered Deep Brain Stimulation as a course of treatment. Could you give us your views on this?
 

Answer from Dr. Susan Hayflick:

Some individuals with NBIA have benefited from DBS for a limited amount of time. This is an active area of research, so relatively little is known about the benefits and risks in NBIA at this time. We need to follow children for several years to evaluate DBS in the NBIA disorders and these studies have only recently begun.
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Question dated February 28, 2005: Our Son is 15, he was diagnosed with HSS at 8 based on his MRI which had shadowing on the basal ganglia.  He had development delays beginning at 10 mos. and never walked independently.  He has been in a wheel chair since he was 9.  With early onset and rapid progression I believe our Son has the classic form of the disease.  However, I've read on the website that it is believed in the classic form of the disease the individual has no pantothenate.  However, our Son had testing for vitamin and mineral levels when he was 13.  At that time he had been taking 500 mg of B5 daily.  The testing showed his level of Patothenate was in range.  Is this a contradiction in the diagnosis?  Is it possible higher doses of B5 would help him?
Reply from Allison Gregory, a genetic counselor who works with Dr. Susan Hayflick at OHSU: People with PKAN have mutations in a gene that codes for an enzyme called pantothenate kinase 2.  An enzyme takes a product, like a vitamin, and converts it into something else.  In this case, the pantothenate kinase enzyme takes pantothenate and turns it into something else.  So, it is not surprising that your son had normal levels of this vitamin.  The thing that is missing is the enzyme that processes this vitamin.  So, I do not think his diagnosis is in question at all.

There is some speculation that higher doses of B5 can help some PKAN patients, mainly atypical patients and not those with classic disease. The theory is that those with atypical disease may have some enzyme that works, and that by flooding their systems with a ton of B5, maybe some of it will get pushed through.  This has not been studied scientifically yet, but some of our patients think it helps.

Below are our instructions for trying it, if you want to give it a shot.  Just be mindful that it can cause stomach upset, and your son may not be able to tell you about this very easily if it is happening.

I recommend a trial of high dose vitamin B5 (also called pantothtenate or pantothenic acid) in patients with NBIA/PKAN. Since no toxicity has been reported in normal individuals even with doses of 5-10 grams by mouth per day, we are suggesting starting at 250 mg by mouth per day and increasing to 2-5 grams by mouth per day. We recommend increasing the dose each week by 500 mg per day until a daily dose of 2-5 grams is reached. I use calcium pantothenate but other forms may be fine.
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Question dated August 23, 2004: My son Joshua is aged 13 years. He has been prescribed Tetrabenzine after reading an article on this website. My doctor has no knowledge about Hallervorden-spatz syndrome apart from what we have shared with him as our only other child Stuart had the same syndrome but sadly passed away 5 years ago. My question is please what is the highest dosage you are able to give? Joshua has just had to have a Trachostomy as breathing became harder for him and 4 weeks ago stopped breathing and had to be resuscitated But since he came out of the hospital 4 days ago the spasms and sweats have increased dramatically. Please can you help. Joshua is also on Clonazepam 15mls three times a day and just started on Diazepam 4mls three times a day, but with all this medication still gets very stiff and sweaty, he has even been biting his bottom lip and made it swollen and sore. I would appreciate any information you can give me so I can pass this onto Joshua’s Pediatric doctor. Yours sincerely very concerned mother.
 
Answer from Dr. Susan Hayflick: I have no direct experience with using tetrabenezine in any of the NBIA disorders. If your child is not on baclofen, his doctors should consider starting this since it is the most consistently beneficial medication for treating patients with this group of disorders.
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Question dated June 6, 2004: Our Son is 14 years old and was diagnosed with Classic HSS when he was 7 years. Some symptoms he exhibits that we never see in the description of HSS are severe sweating and difficulty in the warm weather.  He doesn't tolerate the heat well and if he does go swimming in the summertime, even in fairly warm water, he gets cooled off very quickly and takes a long time to get warm again. Just after birth he was in an incubator overnight because his body temp was too low. He always seems warm to the touch and sweats heavily at night and somewhat during the day depending on the weather temperature.  Are these symptoms seen in other HSS patients?
 
Answer from Dr. Susan Hayflick: I am not aware of a specific problem with temperature regulation in any forms of NBIA. The sweating may be from the exertion of dystonic muscle spasms, but that would not explain the difficulty warming him up. Could this be a family trait separate from his disease?
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Question dated December 2, 2003: What is the average age in which a person with NBIA lives?
 

Answer from Allison Gregory, a genetics counselor at OHSU who works with Dr. Susan Hayflick: Although it seems like there should be a simple answer to your question, it is actually quite complicated. This is because there are various subtypes of NBIA, and each one is a little different. For example, some people have "atypical," or "late-onset" NBIA, where they may not have symptoms or receive a diagnosis until their teens or twenties. I know one woman with this type of NBIA who is in her sixties now and doing pretty well. 

Other kids have the "classical" type that usually starts when they are babies or young children. Their lifespans are still variable, depending on what types of problems they develop. These kids generally live to their late teens or into their twenties. 

NBIA is also so rare that we don't have a very big denominator when we think about calculating an "average" lifespan. I hope this addresses your question. Please let us know if you have more.
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Question dated November 6, 2003: My brother who is 28 was recently diagnosed with NBIA. He has the "eye of the tiger" sign, but has had no genetic testing. We are exploring treatment options and way to slow the progression. He has only mild symptoms with increased tone and frequently falls. He is being treated in Little Rock, AR by a neurologist, but this is her first case of NBIA. We have read several reports and articles regarding diet and nutritional supplements. Should we try to decrease his intake of iron? Have you found any helpful treatments? Thank you for your help.
 
Answer from Dr. Susan Hayflick: First, I would recommend that he have the PANK2 genetic test. This will confirm the diagnosis. Limiting dietary iron will only lead to systemic iron deficiency and probably does not impact brain iron content, so I do not recommend this. Since he has later onset NBIA, he may benefit from high doses of pantothenate. Though this has not been proven to be therapeutic, it is also without significant risks.
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Question dated August 14, 2003: I have a friend, that has this terrible genetic disease. What kind of new medications are you giving your patients?
 
Answer from Dr. Susan Hayflick: To my knowledge, there are no *new* medications that are helpful in PKAN or NBIA. I would recommend that this patient's neurologist be asked to review their current medications to be sure that the specific drugs and doses are optimal.
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Question dated July 11, 2003: I am sending some details of my friend's son in India, clinically diagnosed as having Hallervorden-Spatz syndrome. Could you please give your opinion regarding his condition? Age: 3 years. Problems: fine tremors, ataxia, delayed mile stones, flat foot, aggressive behavior, adamant child, falls frequently while walking or turning in sitting position. M.R.I - absent rostrum of corpus callosum, calcified globus pallidus, left commusire smaller than right E.R.G - abnormal retinal function Ophathalmology opinion macular lesion in retina. Advised -- No Definitive treatment available. Pantothenic acid 2 tsf b.d. (not available in India) P.A.N.k.-2 test for 100% confirmation. (Not available in India).
 
Answer from Dr. Susan Hayflick: From the clinical description, I am uncertain of the diagnosis. Genetic testing is now offered in Europe and Asia. For information on these laboratories, please contact Jason Coryell, MS, CGC or Allison Gregory, MS, CGC at OHSU by email: coryellj@ohsu.edu or gregorya@ohsu.edu.
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Question dated February 24, 2003: After years of doctors insisting there was nothing wrong with a child who has a speech impediment, poor coordination and her nerves seem to seize up, my niece has been diagnosed with what they think is  Hallervorden-Spatz syndrome. She is 8 years old, but her condition seems to be getting better. The medication given to her was making her much worse so we stopped this. Is it possible for the disease to revert to regenerative rather than degenerative? Have you heard of any cases like this as we want to do the best for her. Could they have got it wrong and be giving us the incorrect treatment? is there a specialist we can go to in the UK or abroad to sort the diagnosis out to improve her quality of life?
 
Answer from Dr. Susan Hayflick: In my experience, patients with PKAN and other forms of NBIA do not have significant periods of improvement in their disease. If a drug is causing problems, then discontinuing the drug may result in improvement. This is different than the disease actually improving.

There are few physicians anywhere in the world who have experience with many NBIA patients. A pediatric neurologist who is well-trained and has access to international scientific journals that allow them to remain current in their knowledge is usually the best local resource for diagnosing and managing disease. If they have specific questions, often they can contact specific doctors to answer these or they can place their questions on an international listserve to get input from a large number of neurologists. Several of the medical literature references at the NBIA Disorders web site provide valuable information.
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Question dated February 14, 2003: My son is 5 years old and has developed dystonia and spasticity, that is progressing.  One neurologist has suggested NBIA could be the cause and that only time will tell.  He has had 2 MRI's reported as normal, a normal opthamology exam and numerous other tests with normal results.  Is it possible that the MRI would be normal but one could still have NBIA?
 
Answer from Dr. Susan Hayflick: Since NBIA is a group of disorders, some forms may show MRI changes only late in the disease course. The one form that can be tested for by genetic analysis is PKAN. In PKAN, it would be quite unusual for the MRI to be normal and for the child to have serious problems. We are still learning a great deal about the various forms of NBIA, including PKAN, so there is no substitute for a good pediatric neurologist to help sort out the most sensible diagnostic studies to be done on any given patient.
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Question dated January 31, 2003: My son is 13 years old with Classic HSS.  He has been on Vitamin B5 at 250 mg twice a day for approximately 9 mos.  We just increased this to 500 mg twice a day.  I have read that to properly assimilate Vitamin B5 it should be taken with Vitamins A, C, E, and B Complex.  While my son takes a multi-vitamin, the dosage of A, E, and B Complex are less than the US daily recommended. Would it be safe to add A, E, and B Complex in amounts greater than the US daily recommended dosage and by what percent?  My Son weighs approximately 58#.
 
Answer from Dr. Susan Hayflick: My suggestion would be to keep the amounts of all vitamins other than vitamin B5 at the US daily recommended levels. Vitamins come through good nutrition as well as vitamin supplements. It is important not to exceed amounts of certain fat-soluble vitamins, specifically vitamins A and E. For the water-soluble vitamins (most of the others, including B5), the excess is excreted in the urine. There may be a more specific role for other vitamins in the treatment of PKAN, and we will be investigating these.
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Question dated January 2, 2003: My son is 4 years old, and is suspected to have HSS. My son had the "eye- of- the- tiger" sign on his 2 year old(MRI), but it disappeared at 3 years old. Have you found another patient like this?
 
Answer from Dr. Susan Hayflick: I have never seen the eye of the tiger sign disappear, so I would need to see the MRI films in order to confirm  this information.
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Question dated December 27, 2002: My 7 year old nephew has been diagnosed with HARP Syndrome. I am having trouble finding information about the disease. Can you please tell me the difference between Harp Syndrome and HSS, because the they seem to have the same outcome?
 
Answer from Dr. Susan Hayflick: We now know that HARP syndrome and PKAN are the same condition with the same range of outcomes. Not all patients with PKAN have identical symptoms or follow the same disease course. Most patients diagnosed in the past with HARP seem to have the childhood onset rapidly progressive (classic) form of PKAN.
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Question dated February 1, 2002: I am a caregiver to a beautiful 15 yr old girl with HSS. She has been tube fed for about 2 years, has not spoken for about the same, and has lost the ability to walk on her own for 1 ˝ years. She is just now starting to have trouble with her throat muscles. It seems like she chokes on her own saliva. I know that every patient is different, but do you have any idea, about how long she has before she need to have the tube put in her throat to assist in breathing? She has lost her breath twice for about 7 seconds.
 
Answer from Dr. Susan Hayflick: This is difficult to predict because the rate of disease progression varies over time and with each child. Could be weeks, months or years. A ENT, pulmonologist or swallowing specialist might be able to assess this patient and advise about any needed interventions.
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Question dated April, 2001: I recently read an article in our local paper regarding Huntington's Disease which sounds much like HSS. It stated that the gene mutation consists of too many repeats of the amino acid glutamine. My question is-- We had thought of trying amino acids for our l4 yr old son along with his hyperbaric oxygen treatments, as so many other parents have been doing. Would this be somehow harmful to our son with HSS?  Also, how closely related to Huntington's is HSS?
  
Answer from Dr. Susan Hayflick: Amino acids are the building blocks of proteins, which is most of what makes up a piece of chicken or fish or beef. For kids fed through a feeding tube who are on a commercial formula, the needed amino acids for growth and health are in that formula. Supplemental amino acids will probably do no harm but they can be expensive. Don't be swindled by special amino acid preparations!

Huntington disease (HD) is an adult onset neurodegenerative disorder that has movement abnormalities, similar to HSS. While there is a general increase in brain iron in HD, it is very different from what is seen in HSS.  HD is a dominant disease and the gene is on the number 4 chromosome. I would say that HD is similar to HSS since both are genetic neurodegenerative movement disorders, but they differ greatly in their features, including age of onset, parts of the brain involved, gene and probable mechanism of disease.
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Question dated July, 2000: I have yet to see this "To tell or not to tell?" issue discussed and would like to know what help is available for the emotional state of children suffering with HSS. My niece and nephew, ages 14 and 11, respectively, have been diagnosed with HSS for 4 years now. Neither have been told about their disease, although it is likely that the older child has some knowledge of her changes, especially since her onset was later, and she had been in "regular" classrooms and had a normal physical life until age 8. The parents don't believe that the kids are aware of their rapidly worsening condition, and are not discussing it with either child. Both children are cheerful, loving and alert, and I realize that confirmed acknowledgment may distress the children no matter how it is presented to them. However, we've seen in the past 18 months one child regress from running and playing to constant wheelchair assistance (the older) and the other go from walking with assistance to almost constant seizures. Is it possible that they are not aware of these changes in their bodies? What is the general emotional and or mental state of HSS children in these stages?
 
Answer from Dr. Susan Hayflick: My response to this is not HSS specific. I think all children should be given information about their disorder/condition/ difference so that they can understand it on their own terms and at their own level.  I encourage parents to talk to their children about what is happening to their bodies (and minds?). Knowledge helps children overcome fears.
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Question dated June, 2000: I work at a unit for five ladies with learning disabilities in London, England.  The lady whom I have been asked to take a special interest in was diagnosed with Hallervorden-Spatz Syndrome. At present this lady is undergoing a series of investigations in the hospital because she has been experiencing incidents of extreme distress.  The incidents can last between half an hour and two and a half hours, and are characterized by the lady becoming very hot, (although there is no raised temperature), seeming to become more rigid in her limbs, and crying out in extreme pain.  The Doctors have discovered impacted feces which they have been treating, but the attacks continue and are becoming worse.  There has been talk of the symptoms being caused by esophageal reflux; however, the treatment of choice for this, omprazole medication, seems to have had no effect, over one month.  The lady's hormone levels have tested normal, and a course of antibiotics with follow-up blood test has seemed to rule out infection.  The neurologists have now (finally!) been called in.  Do your Doctors have any ideas what can be the matter and how should we treat it? The lady has severe learning disabilities and is unable to communicate her distress verbally, and so we can't ask her to describe her symptoms more fully.
 
Answer from Dr. Susan Hayflick: The episodes of distress and pain that are described are very typical of the later stages of HSS, in my experience.  I think that they are part of the disease and are episodes of extreme dystonia, which is itself very painful.
It is not that there is something wrong that is causing pain and this results in the dystonia.  At least that is my read of what is happening.

Having said this, it is extremely important to seek a cause of pain in a person with HSS who is showing new distress or acutely worse dystonia. There is a high risk for bone fractures from the low bone density and the muscle spasms in people with HSS.  Always consider an occult (hidden) cause of pain (like bone break or intestinal bleed).

We have tried medicines to ease pain, like morphine, during these episodes of extreme dystonia, and there is only limited benefit.  I have been very disappointed with treatments for these distressing episodes.
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Question dated March, 1999: My daughter has scoliosis and also her feet turn in and she can no longer wear shoes. Are these considered typical problems of HSS as part of the disease, or is it just because she no longer walks and is in a wheelchair? Do many HSS children suffer from these two problems?
  
Answer from Dr. Susan Hayflick: Your daughter's scoliosis and foot changes are mostly related to her no longer walking. Physical therapy to maintain range of motion can slow the progression of these contractures, but they almost always occur. The scoliosis can compromise her breathing if it becomes severe since we rely on the movement of our rib cage to help us breathe. Scoliosis limits movement of the rib cage. Some of the foot and other joint problems can also result from the severe dystonia. Be sure that the therapists have recently taken a good look at the wheelchair to be certain it is providing her with the full amount of back support that she needs. This won't prevent the scoliosis, but it will probably slow the progression or delay it.
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Question dated March, 1999:  Recently, I was in correspondence with a woman whose husband, son and daughter had all been diagnosed with HSS, but after her daughter's death they did an autopsy and said it was Pallidonigroluysian Atrophy instead.  My question is, what is Pallidonigroluysian Atrophy and how is it similar to HSS?  How can doctors differentiate so there is not a mistaken diagnosis?
 
Answer from Dr. Susan Hayflick:  Pallidonigroluysian Atrophy or Dentatopallidonigroluysian Atrophy (DRPLA, as it's best known) is not, in my opinion, very much like HSS, except that they can both be tough to diagnose. DRPLA does not have iron in the basil ganglia and substantia nigra usually and does have a DNA based direct test to establish the diagnosis. DRPLA is rare worldwide but rather more common in Japan. DRPLA is later in onset than classical HSS. It may be that this thing that so many doctors call HSS, that causes iron to collect in the brain but does not present until adulthood and is quite different from the typical childhood onset disorder is similar to DRPLA, but still distinct. For the classical childhood HSS, there are no convincing cases of dominant inheritance (like this family). For the adult onset form, there may be dominant families. DRPLA is caused by an expansion of the DNA that makes up the DRPLA gene. The gene actually gets bigger and this somehow causes disease. These are called trinucleotide repeat/triplet repeat/or trinucleotide expansion diseases and includes Huntington disease, fragile X syndrome, Friedreich's ataxia and many others. We have explored the possibility that HSS is a trinucleotide repeat disorder, but currently have no evidence that it is.
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