User talk:Paigeha/sandbox

Article Section TopicsLrl437 (talk) 20:52, 6 November 2016 (UTC)Lacey

Paige's Edits

Paige's edits will go here. — Preceding unsigned comment added by Mgrp73 (talk • contribs) 20:59, 6 November 2016 (UTC)

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Treatment: Batten disease is a terminal illness, with no cure. Palliative treatment is symptomatic and supportive, however, there are possible treatments available to help alleviate symptoms.[3] Drugs to control seizures may benefit some patients, and physical and occupational therapy can help with motor problems that develop.[3] Ongoing research is studying anti-inflammatory drugs to treat the effects on vision that often develop with the disease.[3]Ongoing Research

Ongoing Studies: There are many current studies being done to develop treatments for patients with Batten disease.

Gene Therapy-Researchers have studied the effectiveness of gene therapy in slowing the progression of symptoms of the disease. They used an adeno-associated virus that included the gene that encodes tripeptidyl peptidase 1 into the brains of canines that have the disease. They saw that symptoms of the canines progressed much slower and that they always lived longer when given the gene therapy treatment.[1]

Enzyme Replacement Therapy-There are many studies involving replacing the deficient enzyme with human product. One study treated mice by giving them tripeptidyl peptidase 1 via the ventricular system of the brain.[5] Side effects of the disease were blessed when treated with the enzyme, specifically the tremors that are characteristic of the disease.[5] Enzyme replacement therapy has also been studied is other animal models including the monkey and canine.[3][5]

Stem Cell Therapy- Stem cell transplantation is used to treat patients with other diseases similar to Batten disease. Researchers are currently studying the most effective use of stem cells for in patients with the disease, as well as what kind of stem cells, hematopoietic stem cells, neural stem cells, and induced pluripotent stem cells, would provide the most success in treating the symptoms of the disease.[3] One study transplanted human stem cells into the brains of mice with no PPT1 enzyme and found that the mice showed improvements in the disease course which could potentially lead to treatment in human patients.[6]

^ Jump up to: a b Katz, Martin L.; Tecedor, Luis; Chen, Yonghong; Williamson, Baye G.; Lysenko, Elena; Wininger, Fred A.; Young, Whitney M.; Johnson, Gayle C.; Whiting, Rebecca E. H. (2015-11-11). "AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease". Science translational medicine. 7 (313): 313ra180. doi:10.1126/scitranslmed.aac6191. ISSN 1946-6234. PMC 4968409Freely accessible. PMID 26560358. Jump up ^ Hawkins-Salsbury, Jacqueline A.; Cooper, Jonathan D.; Sands, Mark S. (2016-11-27). "Pathogenesis and Therapies for Infantile Neuronal Ceroid Lipofuscinosis (infantile CLN1 disease)". Biochimica et biophysica acta. 1832 (11): 1906–1909. doi:10.1016/j.bbadis.2013.05.026. ISSN 0006-3002. PMC 4573397Freely accessible. PMID 23747979. ^ Jump up to: a b c d e f Geraets, Ryan D.; Koh, Seung yon; Hastings, Michelle L.; Kielian, Tammy; Pearce, David A.; Weimer, Jill M. (2016-04-16). "Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis". Orphanet Journal of Rare Diseases. 11. doi:10.1186/s13023-016-0414-2. ISSN 1750-1172. PMC 4833901Freely accessible. PMID 27083890. Jump up ^ "Batten Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)". www.ninds.nih.gov. Retrieved 2016-11-15. ^ Jump up to: a b c d Chang, Michael; Cooper, Jonathan D.; Sleat, David E.; Cheng, Seng H.; Dodge, James C.; Passini, Marco A.; Lobel, Peter; Davidson, Beverly L. (2008-02-12). "Intraventricular Enzyme Replacement Improves Disease Phenotypes in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis". Molecular Therapy. 16 (4): 649–656. doi:10.1038/mt.2008.9. ISSN 1525-0016. ^ Jump up to: a b Tamaki, Jacobs, Dohse, Cooper, Reitsma, He D, Tushinski, Belichinko, Salehi, Mobley, Gage, Huhn,Tsukamoto, Weissman, Uchida (2009). "Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis". Cell Stem Cell. 5: 310–319.

Lacey's Edits

Topics: Gene Name/ Protein Name & Normal Gene Function

-My focus will be on mutations in the CLN3 gene because it is associated with juvenile NCL (the most prevalent form of Batten disease).

Articles

Jill M. Weimer, Elizabeth Kriscenski-Perry, Yasser Elshatory, David A. Pearce (2002). "The Neuronal Ceroid Lipofuscinoses: Mutations in Different Proteins Result in Similar Disease". NeuroMolecular Medicine. 1: 111–124.

Jalanko Anu, Braulke Thomas (2009). "Neuronal ceroid lipofuscinoses". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1793: 697–709.

The NCLs

Neuronal ceroid lipofuscinoses (NCLs) are a family of diseases which are inherited in an autosomal recessive manner. Collectively referred to as Batten disease, the NCLs are responsible for the majority of neurodegnerative diseases that affect children. Specifically, the frequency of this disease is approximately 1 per 12,500 individuals. The specific type of NCL is characterized by the age of symptomatic onset and genetic mutation involved. Currently, it has been found that mutations in ten genes lead to the development Batten disease.[5]

Batten disease has an autosomal recessive pattern of inheritance. NCL diseases[edit | edit source]

Infantile Neuronal Ceroid (INCL): CLN1 encodes for the protein PPT1 which functions as a lysosomal enzyme.[6]

Late Infantile NCL (LINCL): CLN2 encodes for the protein TPP1 which serves as a lysosomal enzyme.[6]

Juvenile NCL (JNCL): CLN3 encodes for CLN3, a lysosomal transmembrane protein.[6]

Adult NCL: CLN4 has no known associated protein.[6]

Finnish Variant of Late Infantile NCL (fLINCL): CLN5 encodes for CLN5, a soluble lysosomal protein.[6]

Variant of the Late-Infantile NCL: CLN6 encodes for the protein CLN6, which serves as a transmembrane protein of the endoplasmic reticulum.[6]

Turkish Variant of Late Infantile NCL: CLN7 or MFSD8, encodes for MFS8 which functions as a lysosomal transmembrane protein.[6]

Northern Epilepsy: CLN8 encodes for CLN8, a transmembrane protein of the endoplasmic reticulum.[6]

Late Infantile NCL: CLN10 or CTSD encodes for CTSD which is a lysosomal protein which a variety of functions.[6]

Infantile Osteopetrosis: CLCN7 encodes for CLC7.[6]

Juvenile NCL (JNCL): CLN3 mutation[edit | edit source]

The CLN3 gene is located on the short arm of chromosome 16 at gene position 12.1 (16p12.1) and mutations within this gene are the major cause of juvenile NCL. More specifically, 73% of Batten disease cases are due to a 1.02 kb deletion within this gene, CLN3. This deletion causes a frameshift which produces a truncated mutant gene product of only 181 amino acids in length when compared to the wild-type gene product of 438 amino acids in length. Normal functioning CLN3 encodes for a hydrophobic transmembrane protein that is mainly localized to the lysosome; however, the 181 amino acid mutant gene product was instead found to primarily localize to the endoplasmic reticulum and Golgi apparatus. The precise function of the CLN3 gene product remains unknown.[5]

Cassidy's Edits

Cassidy's edits will go here. Topics: Types of Mutations/ Future Directions Cpc7c9 (talk) 21:15, 6 November 2016 (UTC) Focusing primarily on the gene CLN3 mutations — Preceding unsigned comment added by Cpc7c9 (talk • contribs) 21:17, 6 November 2016 (UTC)

Articles:

http://www.sciencedirect.com/science/article/pii/S0887899415303581 Cpc7c9 (talk) 21:18, 6 November 2016 (UTC)

Types of Mutations — Preceding unsigned comment added by 161.130.188.26 (talk) 01:35, 28 November 2016 (UTC)

Types of Mutations

CLN1: another name for it is PPT1, encodes for palmitoyl-protein thioesterase 1 which is an enzyme that isn't active enough in.

CLN 2: also known as TPP1, makes tripeptidyl peptidase which is a mix of acid and protease that breaks down proteins. In Late Infantile NCL, it isn't active enough.

CLN3: This mutation is the most common and a part of juvenile NCL. This enzyme encodes for battenin, this is mainly found in the cell membrane within lysosomes. As of now this protein has an unknown cause. CLN3 protein is the most common mutation in Battens disease. It is involved in transportation of proteins, communication from cell to cell, and chemical signal transmission (Uusi-Rauva K et al., 2012). When there is a mutation in CLN3 it deletes roughly 1000 base pairs (Uusi-Rauva K et al.,2012). This deletion causes a disruption in the normal function of lysosomes within the cell.

CLN5: which causes variant Late Infantile NCL, product, function is still not known for this protein.

CLN6: which also causes Late Infantile NCL, linclin is the protein that it encodes for. Found in the cell membrane, specifically in the endoplasmic reticulum. Function still unknown.

MFSD8:(also known as CLN7) seen in variant Late Infantile NCL, protein that is a member of major facilitator superfamily that transports different substances throughout the cell membrane. Function is unknown.

CLN8: a mutation in this area can lead to mental retardation and cause seizures that lead to epilepsy.This gene is also found in the cell membrane endoplasmic reticulum. Function of the protein is still unknown.

CTSD, also known as CLN10, involved with Congenital NCL, cathepsin D is the protein that it encodes for. This lysosomal enzyme breaks down proteins. Having a deficiency is cathepsin D creates this disorder. http://www.ninds.nih.gov/disorders/batten/detail_batten.htm ```` — Preceding unsigned comment added by 72.35.174.50 (talk) 17:04, 25 November 2016 (UTC) ````

https://ghr.nlm.nih.gov/gene/CLN3#conditions

Future Directions

As of now there are no current treatments for Batten disease, but there is hope in future research endeavors. By using an animal model of NCL, scientists are able to study the fats and proteins that build up in protein subunit c. The protein used is found in the mitochondria of the cell which produce energy for the cell. Researchers are trying to understand what protein has to do with NCL. They are also trying to interpret why this protein builds up inside the cell that shows the disease. Studies are in the process of uncovering why variants in gene mutations lead to fat-protein deposits. Another area that needs improved research is treatment in disorders. Scientists are using sheep and dog models as well as genetically made mouse models. More simple models are of great use to scientists because it is easier to see the function of NCL proteins. Researchers believe that both simple organisms and complex organisms have the same function. Mouse models will be most effective due to being able to genetically modify them. Human cell research is being used to currently to uncover the research found in models and applying them to people with NCL disorders. Researchers are most recently used as iPS cells. Next Generation Sequencing now allows scientists to screen larger populations of more human-like animals (Pinnapureddy et al., 2015). Sheep are being used for studies because they are close in size to humans, have a similar physiology, and are also outbred like humans (Pinnapureddy et al., 2015). Other options that could be available are enzyme replacement therapy, gene therapy, and stem cell therapy. These therapies would be used to deficiency in proteins and NCL (Wager et al., 2016). http://www.ninds.nih.gov/disorders/batten/detail_batten.htm ```` — Preceding unsigned comment added by 72.35.174.50 (talk) 17:09, 25 November 2016 (UTC) ```` https://ghr.nlm.nih.gov/gene/CLN3#conditions https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557632/

Matthew's Edits

Symptoms addtions Mgrp73 (talk) 21:40, 29 November 2016 (UTC)

Due to the wide variety of symptoms that present in affected individuals, it is difficult for medical professionals to diagnose a patient with Batten disease. The symptoms associated with the disease could be attributed to something more common especially if the individual is very young at the onset of symptoms. With multiple genes attributed to a NCL phenotype, it is difficult to pinpoint the exact diagnose without initial identification of a possible NCL syndrome and consequently completing more testing to confirm the diagnosis. The disease shows genetic and allelic heterogeneity. Prognosis of symptoms and life course depend on at what age symptoms begin to arise in affected individuals.

More acne present in individuals with Batten disease.

Females experience menarche at an earlier age than unaffected individuals.

Recent research has shown that there are significant cardiac symptoms that can cause death in affected individuals. Patients with Batten disease commonly show deeply inverted T waves in analysis of electrocardiograms. Affected individuals also have shown ventricular hypertrophy and reduced sinus node automaticity. Females are afflicted by these cardiac symptoms at around age 14 while males are affected at age 20.

Gender Differences additions Mgrp73 (talk) 21:40, 29 November 2016 (UTC)

Although the disease presents itself around a year earlier in males on average than in females, recent research has shown that females with Batten disease have a quicker progression in symptoms that end in earlier average age of death. In this study, females were described to show a worse overall quality of life characterized by rapid progression of functional capabilities and loss of the ability to function independently.

Frequency of Occurrence additions Batten disease's occurrence ranges world-wide from 1.3-7.0 affected individuals per 100,000 births. The range exists because the disease is more common among Finland, Sweden, and other northern European countries. Batten disease also has a greater rate of occurrence in Newfoundland and the rest of Canada.

History additions General practitioner Dr. Otto Christian Stengel was the first to provide a clinical description of afflicted patients in 1826. Stengel was from a small community in Norway where Batten disease is more common today than in most other places in the world. Dr. Bernard Sachs, an American neurologist, described a similar phenotype that was grouped into the same disease as was originally described by Stengel. After more research this disease was specified as a different disease and is known today as Tay-Sachs disease. There were a number of diseases that were identified in the early 20th century. Batten and Vogt detailed phenotypes of affected individuals that began presenting symptoms as infants and juveniles. One of those diseases was originally known as Spielmeyer-Vogt-Sjögren-Batten disease, but was later shortened to Batten disease.

Ivan's Edits

Ivan's edits will go here. — Preceding unsigned comment added by Mgrp73 (talk • contribs) 21:01, 6 November 2016 (UTC)

Focus on Molecular Explanation and Diagnosis. Igvgy5 (talk) 20:15, 22 November 2016 (UTC)

I edited the beginning of the Diagnosis section. https://www.dovepress.com/juvenile-neuronal-ceroid-lipofuscinosis-batten-disease-current-insight-peer-reviewed-fulltext-article-DNND Igvgy5 (talk) 20:15, 22 November 2016 (UTC)

Added another piece to Diagnosis. Same reference. Igvgy5 (talk) 20:32, 22 November 2016 (UTC)

Completed all of diagnosis. I don't know how you want me to send it. Can you see all my work on my profile or do I have to send it all to you? It's alot Igvgy5 (talk) 22:42, 22 November 2016 (UTC)

Batten disease is a very rare disease. Like most uncommon NCL diseases. Batten disease occasionally goes misdiagnosis resulting in medical mistreatment, increases in medical expense, and increases in family stress. Nevertheless, Batten disease can be diagnosed if properly detected. Vision loss is the most common detection of Batten disease. In many instances, Batten disease is initially seen by an optometrist or ophthalmologist during an eye exam because one of the first signs is vision loss. Even though it is also seen in a variety of other diseases as well, a loss of ocular cells should be a warning sign of Batten Disease potentially being present. If Batten Disease is a possible diagnosis for an individual, a variety of tests are run to confirm including:

Blood or urine tests. These tests can detect abnormalities that may indicate Batten disease. For example, elevated levels of a chemical called dolichol are found in the urine of many individuals with NCL. The presence of vacuolated lymphocytes—white blood cells that contain holes or cavities (observed by microscopic analysis of blood smears)—when combined with other findings that indicate NCL, is suggestive for the juvenile form caused by CLN3 mutations. Igvgy5 (talk) 00:33, 27 November 2016 (UTC)

Batten disease is a very rare disease. Like most uncommon NCL diseases. Batten disease occasionally goes misdiagnosis resulting in medical mistreatment, increases in medical expense, and increases in family stress. Nevertheless, Batten disease can be diagnosed if properly detected. Children are more prevalent, and should be more suspected for having juvenile Batten disease. Vision lossimpairment in children or in general is the most common detection of Batten disease. In many instances, Batten disease is initially seen by an optometrist or ophthalmologist during an eye exam. Even though it is also seen in a variety of other diseases as well, a loss of ocular cells should be a warning sign of Batten Disease potentially being present. If Batten Disease is a possible diagnosis for an individual, a variety of tests are run to confirm including:

Blood or urine tests. These tests can detect abnormalities that may indicate Batten disease. For example, elevated levels of a chemical called dolichol are found in the urine of many individuals with NCL. The presence of vacuolated lymphocytes—white blood cells that contain holes or cavities (observed by microscopic analysis of blood smears)—when combined with other findings that indicate NCL, is suggestive for the juvenile form caused by CLN3 mutations. Igvgy5 (talk) 00:36, 27 November 2016 (UTC)

Added reference

Remove and added content. Blood or urine tests. These tests can detect abnormalities that may indicate Batten disease. For example, elevated levels of a chemical called dolichol are found in the urine of many individuals with NCL. The presence of vacuolated lymphocytes—white blood cells that contain holes or cavities (observed by microscopic analysis of blood smears)—when combined with other findings that indicate NCL, is suggestive for the juvenile form caused by CLN3 mutations.

Skin or tissue sampling:. The doctorPerformed canby examineextracting a small piece of tissue, which then is examined under an electron microscope. TheThis powerfulhelps magnificationand ofallows thedoctors microscopeto helps the doctor spotdetect typical NCL deposits. These deposits are common in tissues, such as skin, cellsmuscle, especially thoseconjunctiva, fromand sweatrectal. glandsThis type of diagnostic technique is beneficial, however other invasive tests are more advantagoues for diagnosing Batten disease.

Electroencephalogram (EEG). An EEG uses special patches placed on the scalp to record electrical currents inside the brain. This helps doctors see telltale patterns in the brain's electrical activity that suggest an individual has seizures. Igvgy5 (talk) 01:17, 28 November 2016 (UTC)

Added reference. Blood or urine tests. These tests can detect abnormalities that may indicate Batten disease. For example, elevated levels of a chemical called dolichol are found in the urine of many individuals with NCL. The presence of vacuolated lymphocytes—white blood cells that contain holes or cavities (observed by microscopic analysis of blood smears)—when combined with other findings that indicate NCL, is suggestive for the juvenile form caused by CLN3 mutations.

Skin or tissue sampling: Performed by extracting a small piece of tissue, which then is examined under an electron microscope. This helps and allows doctors to detect typical NCL deposits. These deposits are common in tissues, such as skin, muscle, conjunctiva, and rectal.This type of diagnostic technique is beneficial, however other invasive tests are more advantagoues for diagnosing Batten disease.

Electroencephalogram (EEG). An EEG uses special patches placed on the scalp to record electrical currents inside the brain. This helps doctors see telltale patterns in the brain's electrical activity that suggest an individual has seizures Igvgy5 (talk) 01:18, 28 November 2016 (UTC)

Add content Blood or urine tests. These tests can detect abnormalities that may indicate Batten disease. For example, elevated levels of a chemical called dolichol are found in the urine of many individuals with NCL. The presence of vacuolated lymphocytes—white blood cells that contain holes or cavities (observed by microscopic analysis of blood smears)—when combined with other findings that indicate NCL, is suggestive for the juvenile form caused by CLN3 mutations.

Skin or tissue sampling: Performed by extracting a small piece of tissue, which then is examined under an electron microscope. This helps and allows doctorsphysicians to detect typical NCL deposits. These deposits are common in tissues, such as skin, muscle, conjunctiva, and rectal.This type of diagnostic technique is beneficial, however other invasive tests are more advantagoues for diagnosing Batten disease.

Electroencephalogram (EEG). An EEG uses special patches placed on the scalp to record electrical currents inside the brain. This helps doctors see telltale patterns in the brain's electrical activity that suggest an individual has seizures. Igvgy5 (talk) 01:18, 28 November 2016 (UTC)

Change and added content. Batten disease is a rare disease. Since it is a uncommon disease. Batten disease may result in misdiagnosis, which in turn cause increases in medical expenses, increases in family stress, and increases in the chance of using incorrect forms of treatment. Neverthless, Batten disease can be diagnosed if properly detected. Vision impairment is the most common observable symptom to detect the disease. Children are more prevalent, and should be suspected more for juvenile Batten disease. Children or someone suspected to have Batten disease, should initially be seen by an optometrist or ophthalmologist. A fundus eye examination that aids in the detection of common vision impairment abnormalities, such as granularity of the retinal pigment epithelium in the central macula will be performed.Even though it is also seen in a variety of other diseases as well, a loss of ocular cells should be a warning sign of Batten Disease potentially being present. If Batten Disease is the suspected diagnosis, a variety of tests are conducted to help accurately confirm its ascertainment including:

Blood or urine tests. These tests can detect abnormalities that may indicate Batten disease. For example, elevated levels of a chemical called dolichol are found in the urine of many individuals with NCL. The presence of vacuolated lymphocytes—white blood cells that contain holes or cavities (observed by microscopic analysis of blood smears)—when combined with other findings that indicate NCL, is suggestive for the juvenile form caused by CLN3 mutations.

Skin or tissue sampling: Performed by extracting a small piece of tissue, which then is examined under an electron microscope. This helps and allows physicians to detect typical NCL deposits. These deposits are common in tissues, such as skin, muscle, conjunctiva, and rectal.This type of diagnostic technique is beneficial, however other invasive tests are more advantagoues for diagnosing Batten disease. Measurement of enzyme activity. Measurement of the activity of palmitoyl-protein thioesterase involved in CLN1, the acid protease involved in CLN2, and, though more rare, cathepsin D activity involved in CLN10, in white blood cells or cultured skin fibroblasts (cells that strengthen skin and give it elasticity) can be used to confirm or rule out these diagnoses.

DNA analysis. If families where the mutation in the gene for CLN3 is known, DNA analysis can be used to help confirm the diagnosis or for the prenatal diagnosis of this form of Batten disease. When the mutation is known, DNA analysis can also be used to detect unaffected carriers of this condition for genetic counseling. If a family mutation has not previously been identified or if the common mutations are not present, recent molecular advancedadvances have made it possible to sequence all of the known NCL genes, increasing the chances of finding the responsible mutation(s).

==Treatment== Igvgy5 (talk) 01:20, 28 November 2016 (UTC)

Changed reference. Measurement of enzyme activity. Measurement of the activity of palmitoyl-protein thioesterase involved in CLN1, the acid protease involved in CLN2, and, though more rare, cathepsin D activity involved in CLN10, in white blood cells or cultured skin fibroblasts (cells that strengthen skin and give it elasticity) can be used to confirm or rule out these diagnoses.

DNA analysis. DNA analysis can be used to help confirm the diagnosis of Batten disease. When the mutation is known, DNA analysis can also be used to detect unaffected carriers of this condition for genetic counseling. If a family mutation has not previously been identified or if the common mutations are not present, recent molecular advances have made it possible to sequence all of the known NCL genes, increasing the chances of finding the responsible mutation(s).

==Treatment== Igvgy5 (talk) 01:21, 28 November 2016 (UTC)

Change content and add reference Computed tomography (CT) or magnetic resonance imaging (MRI). Diagnostic imaging can help doctors look for changes in the brain's appearance. CT uses x-rays and a computer to create a sophisticated picture of the brain's tissues and structures, and may reveal brain areas that are decaying, or “atrophic,” in persons with NCL. MRI uses a combination of magnetic fields and radio waves, instead of radiation, to create a picture of the brain.

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DNA analysis. DNA analysis can be used to help confirm the diagnosis of Batten disease. When the mutation is known, DNA analysis can also be used to detect unaffected carriers of this condition for genetic counseling. If a family mutation has not previously been identified or if the common mutations are not present, recent molecular advances have made it possible to sequence all of the known NCL genes, increasing the chances of finding the responsible mutation(s). Igvgy5 (talk) 01:22, 28 November 2016 (UTC)

Rephrase content and add reference. Electroencephalogram (EEG). EEG is a techinque that uses special probes that are attached on to the individuals scalp. It records electrical currents/signals, which allow medical experts to analylze electrical pattern activity in the brain. Assist in observing if the patient has seizures.

Electrical studies of the eyes. TheseAs testsmentioned, whichvision includeloss visualis the most common characteristic of Batten disease. Visual-evoked responses and electroretinograms, canare effective test for detectdetecting various eye problemsconditions common in childhood NCLs.

Computed tomography (CT) or magnetic resonance imaging (MRI). Diagnostic imaging can helptest doctorsallow lookphysicians forto changesbetter invisualize the brain's appearance of the brian. MRI imaging test uses magentic fields and radio waves to help create images of the brain. CT scan is another type of imaging test that uses x-rays and a computercomputers to create a sophisticateddetailed pictureimage of the brain's tissues and structures,. andBoth maydiagnostic imaging test can help reveal brain areas that are decaying, or “atrophic,” in persons with NCL.

Measurement of enzyme activity. Measuring enzymatic activity specific to Batten disease, may help confirm or rule out certain diagnoses caused by different mutations. Elevated levels of palmitoyl-protein thioesterase is involved in CLN1. Acid protease is involved in CLN2. Cathepsin D is involved in CLN10. Igvgy5 (talk) 01:25, 28 November 2016 (UTC)

Change content and added reference

Add content

• CLN1 or PPT1, encodes an enzyme called palmitoyl-protein thioesterase 1 that is insufficiently active in Infantile NCL.
• CLN2 or TPP1, produces an enzyme called tripeptidyl peptidase 1—an acid protease that degrades proteins. The enzyme is insufficiently active in Late Infantile NCL (also referred to as CLN2).
• CLN3 mutation is the most prevalent and major cause of Juvenile NCL. The gene encodes a hydrophobic integeral membrane protein called CLN3 or battenin. whichBattenin is found in the membranes of the cell (most predominantly in lysosomes and in related structures called endosomes). The protein’s function is currently unknown.
• CLN5, which causes variant Late Infantile NCL (vLINCL, also referred to as CLN5), produces a lysosomal protein called CLN5, whose function has not been identified.
• CLN6, which also causes Late Infantile NCL, encodes a protein called CLN6 or linclin. The protein is found in the membranes of the cell (most predominantly in a structure called the endoplasmic reticulum). Its function has not been identified. Igvgy5 (talk) 04:09, 29 November 2016 (UTC)

Cause

Batten disease is caused by genetic mutations that cause lipofuscins to accumulate within the body's tissues. TheseLipofuscin are substances consistconsisting of fats and proteins andthat form certain distinctive deposits that cause the symptoms and can be seen under an electron microscope. The diagnosis of Batten disease is based on the presence of these deposits in skin samples as well as other criteria. Eight genes have now been identified that cause different types of Batten disease in children or adults, more having yet to be identified. Of Twothe of theseeight genes, two encode enzymes. The function of most of these genes is still unknown. The identification of these genes opens up the possibility of gene replacement therapy or other gene-related treatments. Batten disease is very rare and occurs in an estimated 2 to 4 out of every 100,000 births in the United States.

Genetics

• CLN1 or PPT1, encodes an enzyme called palmitoyl-protein thioesterase 1 that is insufficiently active in Infantile NCL.
• CLN2 or TPP1, produces an enzyme called tripeptidyl peptidase 1—an acid protease that degrades proteins. The enzyme is insufficiently active in Late Infantile NCL (also referred to as CLN2).
• CLN3 mutation is the most prevalent and major cause of Juvenile NCL. The gene codes forencodes a hydrophobic integeral membrane protein called CLN3 or battenin,. which is found in the membranes of the cell (most predominantly in lysosomes and in related structures called endosomes). The protein’s function is currently unknown.
• CLN5, which causes variant Late Infantile NCL (vLINCL, also referred to as CLN5), produces a lysosomal protein called CLN5, whose function has not been identified.
• CLN6, which also causes Late Infantile NCL, encodes a protein called CLN6 or linclin. The protein is found in the membranes of the cell (most predominantly in a structure called the endoplasmic reticulum). Its function has not been identified. Igvgy5 (talk) 04:08, 29 November 2016 (UTC)

Diagnosis

Batten disease is a rare disease. Since it is a uncommon disease. Batten disease may result in misdiagnosis, which in turn cause increases in medical expenses, increases in family stress, and increases in the chance of using incorrect forms of treatment. Neverthless, Batten disease can be diagnosed if properly detected. Vision impairment is the most common observable symptom to detect the disease. Children are more prevalent, and should be suspected more for juvenile Batten disease. Children or someone suspected to have Batten disease, should initially be seen by an optometrist or ophthalmologist during an eye exam because one of the first signs is vision loss. Even though it is also seen in a variety of other diseases as well, a loss of ocular cells should be a warning sign of Batten Disease potentially being present. If Batten Disease is a possible diagnosis for an individual, a variety of tests are run to confirm including:

Blood or urine tests. These tests can detect abnormalities that may indicate Batten disease. For example, elevated levels of a chemical called dolichol are found in the urine of many individuals with NCL. The presence of vacuolated lymphocytes—white blood cells that contain holes or cavities (observed by microscopic analysis of blood smears)—when combined with other findings that indicate NCL, is suggestive for the juvenile form caused by CLN3 mutations. ← Previous editNext edit → Igvgy5 28 EDITS Igvgy5 (talk) 00:37, 27 November 2016 (UTC)