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1
HOUSE RESOLUTION

 
2     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
 
7     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
 
13     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
 
19     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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1 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
 
7     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
 
12     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
 
15     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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1     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
 
8     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
 
13     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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1     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
 
10     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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1     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
 
4     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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1     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
 
8     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
 
13     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
 
23     WHEREAS, Adult NCL may be inherited as an autosomal

 

 

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1 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
 
12     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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1     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
 
7     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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1     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
 
22     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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1 as they arise; at the same time, physical and occupational
2 therapy may help patients retain function as long as possible;
3 and
 
4     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
 
9     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
 
15     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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1     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
 
9     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
 
17     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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1     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
 
5     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
 
11     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
 
15     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
 
21     RESOLVED, That a suitable copy of this resolution be
22 presented to the Batten Disease Research and Support

 

 

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1 Association as a symbol of our support.