Full Text of HR0424 096th General Assembly
HR0424 96TH GENERAL ASSEMBLY
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| HOUSE RESOLUTION
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| WHEREAS, First described in 1826, more than 170 years ago, | 3 |
| Batten Disease (Neuronal Ceroid Lipofuscinoses), thought to be | 4 |
| one of the most common neurodegenerative diseases, remains an | 5 |
| unsolved mystery today, a puzzling disease that assures its | 6 |
| victims of only one consistent manifestation, early death; and
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| WHEREAS, An inherited, degenerative, neurological disease, | 8 |
| Batten Disease may affect persons of any age, but primarily | 9 |
| affects infants, toddlers, and school age children, beginning | 10 |
| unexpectedly and leading to a progressive loss of brain | 11 |
| function that later destroys bodily functions, eventually | 12 |
| leaving the victim totally helpless; and
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| WHEREAS, Whether in the case of infantile (Santavnori), | 14 |
| late infantile (Jansky, Bielschowsky), juvenile (Batten, | 15 |
| Spielmeyer, Sjogren), or adult type (Kuf, Parry), the early | 16 |
| symptoms of Batten Disease are confusing ones; it strikes | 17 |
| without warning, affecting vision, and causing seizures or | 18 |
| convulsions; and
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| WHEREAS, Possibly most frustrating of all is the fact that | 20 |
| Batten Disease is rarely diagnosed immediately, often being | 21 |
| mistaken for epilepsy or mental retardation, even | 22 |
| schizophrenia; and once diagnosed, there is no satisfactory |
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| treatment and no cure; the clinical course of the disease | 2 |
| includes a marked decline in cognitive function; personality | 3 |
| and behavior changes; loss of communication and motor skills; | 4 |
| poor circulation; decrease in muscle mass; hyperventilation; | 5 |
| hallucinations, and, finally, deterioration to a vegetative | 6 |
| state that ends in death; and
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| WHEREAS, Batten Disease is named after the British | 8 |
| pediatrician who first described it in 1903; also known as | 9 |
| Spielmeyer-Vogt-Sjogren-Batten Disease, it is the most common | 10 |
| form of a group of disorders called Neuronal Ceroid | 11 |
| Lipofuscinoses (or NCLs); and
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| WHEREAS, Although Batten Disease is usually regarded as the | 13 |
| juvenile form of NCL, it has now become the term to encompass | 14 |
| all forms of NCL; and
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| WHEREAS, The forms of NCL are classified by age of onset | 16 |
| and have the same basic cause, progression and outcome but are | 17 |
| all genetically different; over time, affected children suffer | 18 |
| mental impairment, worsening seizures, and progressive loss of | 19 |
| sight and motor skills; eventually, children with Batten | 20 |
| Disease/NCL become blind, bedridden, and unable to communicate | 21 |
| and it is presently always fatal; Batten Disease is not | 22 |
| contagious or, at this time, preventable; and |
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| WHEREAS, The first probable instances of this condition | 2 |
| were reported in 1826 in a Norwegian medical journal by Dr. | 3 |
| Christian Stengel, who described 4 affected siblings in a small | 4 |
| mining community in Norway; although no pathological studies | 5 |
| were performed on these children, the clinical descriptions are | 6 |
| so succinct that the diagnosis of the Spielmeyer-Sjogren | 7 |
| (juvenile) type is fully justified; and
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| WHEREAS, More fundamental observations were reported by F. | 9 |
| E. Batten in 1903, and by Vogt in 1905, who performed extensive | 10 |
| clinicopathological studies on several families; | 11 |
| retrospectively, these papers disclose that the authors | 12 |
| grouped together different types of the syndrome; and
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| WHEREAS, Furthermore Batten, at least for some time, | 14 |
| insisted that the condition that he described was distinctly | 15 |
| different from Tay-Sachs Disease, the prototype of a neuronal | 16 |
| lysosomal disorder now identified as GM2-Gangliosidosis type | 17 |
| A; around the same time, Spielmeyer reported detailed studies | 18 |
| on three siblings, suffering from the Spielmeyer-Sjogren | 19 |
| (juvenile) type, which led him to the very firm statement that | 20 |
| this malady is not related to Tay-Sachs Disease; subsequently, | 21 |
| however, the pathomorphological studies of Schaffer made these | 22 |
| authors change their minds to the extent that they reclassified | 23 |
| their respective observations as variants of Tay-Sachs | 24 |
| Disease, which caused confusion lasting about 50 years; and
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| WHEREAS, In 1913-14, M. Bielschowsky delineated the Late | 2 |
| Infantile form of NCL; however, all forms were still thought to | 3 |
| belong in the group of "familial amaurotic idiocies", of which, | 4 |
| Tay-Sachs was the prototype; in 1931, the Swedish psychiatrist | 5 |
| and geneticist, Torben Sjogren, presented 115 cases with | 6 |
| extensive clinical and genetic documentation and came to the | 7 |
| conclusion that the disease which we now call the | 8 |
| Spielmeyer-Sjogren (juvenile) type is genetically separate | 9 |
| from Tay Sachs; and
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| WHEREAS, Departing from the careful morophological | 11 |
| observations of Spielmeyer, Hurst, and Sjovall and Ericsson, | 12 |
| Zeman and Alpert made a determined effort to document the | 13 |
| previously suggested pigmentary nature of the neuronal | 14 |
| deposits in certain types of storage disorders; | 15 |
| simultaneously, Terry and Korey and Svennerholm demonstrated a | 16 |
| specific ultrastructure and biochemistry for Tay Sachs | 17 |
| Disease, and these developments led to the distinct | 18 |
| identification and also separation of the NCLs from Tay Sachs | 19 |
| Disease by Zeman and Donahue; at that time, it was proposed | 20 |
| that the Late Infantile (Jansky-Bielschowsky), the Juvenile | 21 |
| (Spielmeyer-Vogt), and the adult form (Kufs) were quite | 22 |
| different from Tay-Sachs Disease with respect to chemical | 23 |
| pathology and ultrastructure and also different from other | 24 |
| forms of sphingolipidoses; and
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| WHEREAS, Subsequently, it was shown by Santavuori and | 2 |
| Haltia that an infantile form of NCL exists, which Zeman and | 3 |
| Dyken had included with the Jansky Bielschowsky type; and
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| WHEREAS, There are four main types of NCL, including two | 5 |
| forms that begin earlier in childhood and a very rare form that | 6 |
| strikes adults; the symptoms are similar but they become | 7 |
| apparent at different ages and progress at different rates: | 8 |
| Infantile NCL (Santavuori-Haltia disease): begins between | 9 |
| about 6 months and 2 years of age and progresses rapidly; | 10 |
| affected children fail to thrive and have abnormally small | 11 |
| heads (microcephaly); also typical are short, sharp muscle | 12 |
| contractions called myoclonic jerks; initial signs of this | 13 |
| disorder include delayed psychomotor development with | 14 |
| progressive deterioration, other motor disorders, or | 15 |
| seizures; the infantile form has the most rapid progression | 16 |
| and children live into their mid childhood years; | 17 |
| Late Infantile NCL (Jansky-Bielschowsky disease): begins | 18 |
| between ages 2 and 4; the typical early signs are loss of | 19 |
| muscle coordination (ataxia) and seizures along with | 20 |
| progressive mental deterioration; this form progresses | 21 |
| rapidly and ends in death between ages 8 and 12; | 22 |
| Juvenile NCL (Batten Disease): begins between the ages of 5 | 23 |
| and 8 years of age; the typical early signs are progressive | 24 |
| vision loss, seizures, ataxia, or clumsiness; this form |
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| progresses less rapidly and ends in death in the late teens | 2 |
| or early 20s, although some may live into their 30s; | 3 |
| Adult NCL (Kufs Disease or Parry's Disease): generally | 4 |
| begins before the age of 40, causes milder symptoms that | 5 |
| progress slowly, and does not cause blindness; although age | 6 |
| of death is variable among affected individuals, this form | 7 |
| does shorten life expectancy; and
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| WHEREAS, Batten Disease/NCL is relatively rare, occurring | 9 |
| in an estimated 2 to 4 of every 100,000 births in the United | 10 |
| States; the diseases have been identified worldwide; although | 11 |
| NCLs are classified as rare diseases, they often strike more | 12 |
| than one person in families that carry the defective gene; and
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| WHEREAS, Childhood NCLs are autosomal recessive disorders; | 14 |
| that is, they occur only when a child inherits two copies of | 15 |
| the defective gene, one from each parent; when both parents | 16 |
| carry one defective gene, each of their children faces one in | 17 |
| four chance of developing NCL; at the same time, each child | 18 |
| also faces a one in two chance of inheriting just one copy of | 19 |
| the defective gene; individuals who have only one defective | 20 |
| gene are known as carriers, meaning they do not develop the | 21 |
| disease, but they can pass the gene on to their own children; | 22 |
| and
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| WHEREAS, Adult NCL may be inherited as an autosomal |
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| recessive (Kufs) or, less often, as an autosomal dominant | 2 |
| (Parrys) disorder; in autosomal dominant inheritance, all | 3 |
| people who inherit a single copy of the disease gene develop | 4 |
| the disease; as a result, there are no unaffected carriers of | 5 |
| the gene; symptoms of Batten Disease/NCLs are linked to a | 6 |
| buildup of substances called lipopigments in the body's | 7 |
| tissues; these lipopigments are made up of fats and proteins; | 8 |
| their name comes from the technical word lipo, which is short | 9 |
| for "lipid" or fat, and from the term pigment, used because | 10 |
| they take on a greenish-yellow color when viewed under an | 11 |
| ultraviolet light microscope; and
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| WHEREAS, The lipopigments build up in cells of the brain | 13 |
| and the eye as well as in skin, muscle, and many other tissues; | 14 |
| inside the cells, these pigments form deposits with distinctive | 15 |
| shapes that can be seen under an electron microscope; some look | 16 |
| like half-moons (or comas) and are called curvilinear bodies, | 17 |
| others look like fingerprints and are called fingerprint | 18 |
| inclusion bodies, and still others resemble gravel (or sand) | 19 |
| and are called granual osmophilic deposits (grods); these | 20 |
| deposits are what doctors look for when they examine a skin | 21 |
| sample to diagnose Batten Disease; the diseases cause death of | 22 |
| neurons (specific cells found in the brain, retina and central | 23 |
| nervous system); the reason for neuron death is still not | 24 |
| known; and
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| WHEREAS, Because vision loss is often an early sign, Batten | 2 |
| Disease/NCL may be first suspected during an eye exam; an eye | 3 |
| doctor can detect a loss of cells within the eye that occurs in | 4 |
| the three childhood forms of Batten Disease/NCL; however, | 5 |
| because such cell loss occurs in other eye diseases, the | 6 |
| disorder cannot be diagnosed by this sign alone; and
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| WHEREAS, Often an eye specialist or other physician who | 8 |
| suspects Batten Disease/NCL may refer the child to a | 9 |
| neurologist, a doctor who specializes in disease of the brain | 10 |
| and nervous system; in order to diagnose Batten Disease/NCL, | 11 |
| the neurologist needs the patient's medical history and | 12 |
| information from various laboratory tests; diagnostic tests | 13 |
| used for Batten Disease/NCLs include: | 14 |
| Skin or tissue sampling; the doctor can examine a small | 15 |
| piece of tissue under an electron microscope; the powerful | 16 |
| magnification of the microscope helps the doctor spot | 17 |
| typical NCL deposits; these deposits are found in many | 18 |
| different tissues, including skin, muscle, conjunctiva, | 19 |
| rectal, and others; blood can also be used; | 20 |
| electroencephalogram or EEG; an EEG uses special patches | 21 |
| placed on the scalp to record electrical currents inside | 22 |
| the brain; this helps doctors see telltale patterns in the | 23 |
| brain's electrical activity that suggest a patient has | 24 |
| seizures; | 25 |
| Electrical studies of the eyes; these tests, which include |
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| visual-evoked responses (VER) and electro-retinagrams | 2 |
| (ERG), can detect various eye problems common in childhood | 3 |
| Batten Disease/NCLs; | 4 |
| Brain scans; imaging can help doctors look for changes in | 5 |
| the brain's appearance; the most commonly used imaging | 6 |
| technique is computed tomography (CT), which uses x-rays | 7 |
| and a computer to create a sophisticated picture of the | 8 |
| brain's tissues and structures; a CT scan may reveal brain | 9 |
| areas that are decaying in NCL patients; a second imaging | 10 |
| technique that is increasingly common is magnetic | 11 |
| resonance imaging, or MRI; MRI uses a combination of | 12 |
| magnetic fields and radio waves, instead of radiation, to | 13 |
| create a picture of the brain; | 14 |
| Enzyme assay; a recent development in diagnosis of Batten | 15 |
| Disease/NCL is the use of enzyme assays that look for | 16 |
| specific missing lysosomal enzymes for Infantile and Late | 17 |
| Infantile only; this is a quick and easy diagnostic test; | 18 |
| Genetic/DNA testing; each form of Batten disease is the | 19 |
| result of a different gene; genes for eight or the ten | 20 |
| forms have been identified; testing for these is available | 21 |
| for diagnosis as well as carrier and prenatal; and
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| WHEREAS, As yet, no specific treatment is known that can | 23 |
| halt or reverse the symptoms of Batten Disease/NCL; however, | 24 |
| seizures can be reduced or controlled with anticonvulsant | 25 |
| drugs, and other medical problems can be treated appropriately |
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| as they arise; at the same time, physical and occupational | 2 |
| therapy may help patients retain function as long as possible; | 3 |
| and
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| WHEREAS, Some reports have described a slowing of the | 5 |
| disease in children with Batten Disease who were treated with | 6 |
| vitamins C and E and with diets low in vitamin A; however, | 7 |
| these treatments did not prevent the fatal outcome of the | 8 |
| disease; and
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| WHEREAS, Support and encouragement can help children and | 10 |
| families cope with the profound disability and losses caused by | 11 |
| NCLs; the Batten Disease Support and Research Association | 12 |
| enables affected children, adults, and families to share common | 13 |
| concerns and experiences; meanwhile, scientists pursue medical | 14 |
| research that will someday yield an effective treatment; and
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| WHEREAS, Within the federal government, the focal point for | 16 |
| research on Batten Disease and other neurogenetic disorders is | 17 |
| the National Institute of Neurological Disorders and Stroke | 18 |
| (NINDS); the NINDS, a part of the National Institutes of Health | 19 |
| (NIH), is responsible for supporting and conducting research on | 20 |
| the brain and central nervous system; the Batten Disease | 21 |
| Support and Research Association and the Children's Brain | 22 |
| Diseases Foundation also provide financial assistance for | 23 |
| research; and
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| WHEREAS, Through the work of several scientific teams, the | 2 |
| search for the genetic cause of NCLs is gathering speed; in | 3 |
| September 1995, The International Batten Disease Consortium | 4 |
| announced the identification of the gene for the juvenile form | 5 |
| of Batten Disease; the specific gene, CLN3, located on | 6 |
| Chromosome 16, has a deletion or piece missing; this gene | 7 |
| accounts for 73% of all cases of Juvenile Batten Disease; the | 8 |
| rest are the result of other defects of the same gene; and
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| WHEREAS, Also, in 1995, scientists in Finland announced the | 10 |
| identification of the gene responsible for the infantile form | 11 |
| of Batten Disease; the gene, CLN1, is located on Chromosome 1; | 12 |
| in September 1997, scientists at the Robert Woos Johnson | 13 |
| Medical School and the Institute for Basic Research, New York, | 14 |
| announced the identification of the gene for the "classic" Late | 15 |
| Infantile form of Batten Disease/NCL; the gene, CLN2, is | 16 |
| located on chromosome 11; and
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| WHEREAS, Scientists have also identified the genes | 18 |
| responsible for Finnish Late Infantile (CLN5), variant Late | 19 |
| Infantile (CLN6), EPMR (CLN8), and Congenital/CTSD (CLN10); | 20 |
| research also continues toward identification of the gene for | 21 |
| the adult form of Batten Disease/NCL, also known as Kufs | 22 |
| Disease; and
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| WHEREAS, Identification of the specific genes for | 2 |
| Infantile, Late Infantile, Variant Late Infantile, and | 3 |
| Juvenile Batten Disease/NCL has led to the development of DNA | 4 |
| diagnostics, carrier, and prenatal tests; and
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| WHEREAS, Scientists have discovered that the Infantile and | 6 |
| Late Infantile diseases are missing key lysosomal enzymes, i.e. | 7 |
| Palmitoyl Protein Thioesterase 1 (PPT1) for Infantile and | 8 |
| Tripeptidyl Peptidase 1 (TPP1) for Late Infantile; knowing that | 9 |
| these enzymes are missing is now leading to the development of | 10 |
| gene replacement and stem cell transplantation therapies; and
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| WHEREAS, Recent studies have shown a link between the | 12 |
| Juvenile form and the body's autoimmune system; although this | 13 |
| link is not yet fully understood, it may eventually lead to a | 14 |
| treatment; therefore, be it
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| RESOLVED, BY THE HOUSE OF REPRESENTATIVES OF THE | 16 |
| NINETY-SIXTH GENERAL ASSEMBLY OF THE STATE OF ILLINOIS, that we | 17 |
| declare June 6-7, 2009 Batten Disease Awareness Weekend in the | 18 |
| State of Illinois and ask people of the State to look at ways | 19 |
| in which they may help to combat this terrible disease; and be | 20 |
| it further
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| RESOLVED, That a suitable copy of this resolution be | 22 |
| presented to the Batten Disease Research and Support |
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| Association as a symbol of our support.
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