Re: Hellervorden-spatz disease

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Hallo Elize, the name of the disease is: Hallervorden sparrow syndrom. I searched for it and here is what I found.NBIA/HSS With friendly permission of Wood, foundress and chairman of the NBIA Disorders Association we have among other things on the there Website text which can be found „What is Hallervorden sparrow syndromes? “translates into German. They can reread the entire translation under “information of the NBIA Disorders Association” on our website or under www.nbiadisorders.org. The illness - which is NBIA? Name - frequency - iron in the brain - causes Excursion: Genetics - process - symptoms Name: NBIA or Hallervorden sparrow syndrome? The Hallervorden sparrow syndrome was described for the first time 1922 by the Giessener neurologist Julius Hallervorden and the citizen of Berlin neuro pathologist Hugo sparrow and designated after these two physicians. Above all Hallervorden (and possibly also sparrow) was involved in terrible way in the euthanasia crimes during the Hitler time. Due to his requirements from brain fabric to research purposes numerous mentally ill humans were executed, among them many children. After becoming known these circumstances also abroad increasingly demands were raised to rename the Hallervorden sparrow syndrome particularly in the USA, where the study of this rare illness made considerable progress in the last years. The new name is to express, which mechanisms of the illness to be the basis. At the same time it should be generic term for their different forms. The American group of self-helps renamed itself in the meantime officially in NBIA Disorders Association. NBIA stands for Brain Iron Accumulation for neuro degeneration with. (= nerve degeneration with accumulation of iron in the brain). In Germany also the name Neuroaxonale Dystrophie (NAD) is common. Frequency: How often occurs NBIA/HSS? It becomes estimated that there is per 1 million humans approx. 1-3 NBIA/HSS concerning. Nobody knows exact numbers. Possibly at present some hundred humans are world-wide to it get sick. In any case one is NBIA one of the rarest diseases at all and belonged thereby to the so-called „orphan diseases “. That means „diseases became an orphan “. Because humans, who suffer from such diseases, are the Waisenkinder of the medicine supply. A safe diagnosis can be placed with the living patient at all only since about 15-20 years with the help of the Kernspintomografie MRT recently for a majority of the cases of illness also molecular-genetically. There such rare illnesses like NBIA/HSS until today only in the later stage, possibly also not at all or incorrectly being however sometimes diagnosed, it is difficult to judge whether the estimations are really correct over the frequency of NBIA. A dark number is to be accepted, also for Germany. Here vague estimations proceed meanwhile from up to 20 diagnosed patients. NBIA/HSS there are both sexes in all parts of the world, is equally concerned. Iron in the brain: What is NBIA (HSS)? NBIA (HSS) is a so far incurable neurological illness. For all forms of NBIA - and at the latest by a pathological investigation ascertainable - a abnorme iron storage is characteristic in the globe pallidus and in the Substantia nigra. Those are deep parts inside the brain, which belong to the basal ganglia (master ganglia). The basal ganglia steer movements and muscle tension (= muscle tonus). Casually formulated one could say: they set rust with NBIA. In connection with the poisonous iron deposits form so-called free radicals, which lead to progressive degeneration of the nervous system. Therefore NBIA belongs into the group of the neurodegenerative diseases. Since the brain range is destroyed, which steers the movements, above all movement disturbances belong to the characteristics of the clinical process. Causes: The genes and the metabolisms Newest research results of the Oregon Health & Science University (OHSU) in the USA put the conclusion close that NBIA/HSS only one illness does not designate, but a comprehensive term for a group of illnesses is: · NBIA with PKAN: Concerning with errors (so-called mutations) in the gene PANK 2 on Chromosom 20 place the largest patient sub-group. This gene was decoded in the summer 2001 - perhaps a milestone on the way to an effective therapy. Somewhat completely surprising stepped with this decoding to light. The iron deposits are not the actual cause of NBIA, but even consequence of a disturbance in the metabolism of the Pantothensäure (= Vitamin B 5). The gene PANK 2 codes the enzyme PANtothen Kinase (PANK), which plays a key role in the Coenzym A synthesis. Mutations in PANK 2 lead either to a complete absence of the Pantothen Kinase or cause a clear lack of the enzyme activity. With the functioning Pantothen Kinase Cystein is usually used. Prevent or if Genmutationen disturb this metabolic procedure, now the unnecessary Cystein enriches itself and begins to bind iron which leads to the characteristic deposits. Thus an explanation sample for the developing mechanism of the illness reads. Finally lead the absence or the lack of the Pantothen Kinase in connection with the accumulated iron to nervous lesions by oxidative stress. To find out, which processes run off thereby in the body of the patients, and like one them effectively to interrupt could do, that is the task of the research. Pantothenate Kinase Associated neuro degeneration (PKAN) is called these NBIA Erkrankungsform bound to the Chromosom 20, which is thus the basis a disturbance in the metabolism of the Pantothensäure (Vitamin B 5). More than half of all NBIA (HSS) - PKAN has patients. In the MRT (magnet resonance tomography) PKAN patients are to be recognized by the so-called „eye OF the tiger “(tiger eye). It shows bright marks (signal reinforcement) in the globe pallidus, surrounded by dark surfaces (signal reductions). · NBIA without PKAN The causes for the other illness forms of NBIA are still unknown, genetic reasons however probable, since in the families frequently brothers and sisters children are concerned. In the MRT only signal reductions are to be seen, no tiger eye. Excursion: Genetics (in the wording taken out of the German translation of „What is Hallervorden sparrow syndromes? “) „PKAN is a autosomal rezessive illness. Many other forms of the NBIA are probably likewise autosomal rezessiv. With autosomal rezessiven diseases the patient received ever a not functioning gene from both parents. Each humans carry a complete set of the genetic material in the cells of his body. The entire genetic information is contained in 46 Chromosomen. These consist of 23 pairs, whereby a Chromosom of each pair of the nut/mother comes and the other one from the father. Chromosomen are as it were „miniature filing cabinets “for thousands of genes, which control the normal development and function and thus health. Because all are present in pairs our genes (one of the nut/mother and one of the father ererbt), possess we normally from each gene two functioning copies. If a copy of a rezessiven gene carries a change (mutation), the person concerned will be normally still healthy. This person is called „carriers “. Rezessive diseases arise only if both parents are in each case carriers of mutations on the same gene and to their child pass the changed (mutated) gene on. Statistically seen the probability is with 25% that two carriers get an ill child; in 50% the child will likewise be clinically healthy carrier, but, and in 25% the two healthy genes of parents to inherit, thus clinical and genetically normal be. “ Process: The illness runs without exception progressively (progredient), however not continuously; because the patients possibly experience longer phases of a to some extent stable condition (plateau) after short phases of rapid degradation. But the processes are in detail very different and not predictable. However there is reference on it that e.g. infections and accidents could affect the clinical process unfavorably, partially like Initialzündungen for the symptomatology works. In neurology specialized books the speech is today sometimes and from longer processes only in exceptional cases until of the death of most concerning about 10 years after outbreak of the symptoms. This statement thus cannot be generalized. Fact is that the life expectancy is strongly reduced, however many patients longer lives than most physicians dismayed parents with the diagnosis prognosticates. However: Ever in former times NBIA breaks out, around so heavy and more rapidly progressively is often the process. The group of researchers around Mrs. Dr. Hayflick of the OHSU divides the NBIA patients due to newest investigations at 123 patients, with those important relations between the kind of the mutations in the PANK 2-Gen, which radiological findings (MRT) and the clinical process were observed, into three groups: 1. The earlychildlike (classical) illness with fast Progredienz (PKAN) It begins in the first life decade with on the average 3.5 years (3 years). Prevailing ones neurological characteristics are Dystonie, Dysarthrie, Rigor and Choreoathetose. The loss of independent mobility occurs until about 15 years after the occurance of of first symptoms. About two thirds of the concerning suffer from retina degeneration. Only one part of the patients shows signs of mental dismantling, psychiatric symptoms is rare. All patients, with whom the mutations in the PANK 2 - gene on both gene halves to a premature abort of the protein formation lead (two zero-mutations), have in the study of Dr. Hayflick this classical illness form. 2. The late (atypical) illness with slow Progredienz (PKAN) It breaks in the second or third life decade on the average around 13. /14. greetings Monika

"elizemacmillan" <elizemacmillan@...> schrieb:

Has anyone heard of this disease, what is the cause and how do you

treat it (diet etc)

[Guest guest]

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>Hello , thanks a lot for the info, much appreciated!