Batten Disease Symptoms & Diagnosis

Updated on June 18th, 2019

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    In 1903, Dr. Frederick Batten examined two sisters with unusual symptoms of cerebral degeneration and progressive macular dystrophy and described his findings in a medical report.

    When first discovered, physicians considered this genetic disease a single disorder, but over the years, researchers have unearthed a whole family of lysosomal storage disorders and now also call this inherited pediatric neurodegenerative disease neuronal ceroid lipofuscinosis (NCL).

    We research the latest medical literature on genetic disorders. In this article, we will review the best information we could find about Batten disease.

    What Is Batten’s Disease?

    Batten’s disease is primarily a children’s disease. Batten disease in adults is rare. We now know that what Dr. Batten discovered was juvenile neuronal ceroid lipofuscinosis 1.

    Since his time, scientists have found many other genetic mutations, with each NCL disorder matching a specific chromosome. Each mutation is unique, affected by individual factors such as the age of onset, the range of severity, the symptoms, and so on.

    Researchers classify neuronal ceroid lipofuscinosis diseases by their genetic cause and label them as CLN (i.e. ceroid lipofuscinosis, neuronal). They also attach the number of genetic subtypes to a specific chromosome.

    So, for example, CLN6, a neuronal ceroid lipofuscinosis disorder maps to chromosome 15. So far there are ten of these genetic classifications, running from CLN1 to CLN10

    Types of Batten Disease

    The most frequent types are Infantile NCL, Late Infantile NCL, Juvenile NCL, and Adult NCL

    Infantile NCL — This is also called San Santavuori-Haltia disease, affects infants between 6 months to 2 years of age.

    Symptoms like microcephaly, myoclonic jerks, and seizures lead to a failure to thrive.

    Although these severe symptoms appear in quick succession, a child may live up to middle childhood.

    Late Infantile NCL  This is also called Jansky-Bielschowsky disease, Batten disease CLN2, and Tpp1 Batten disease. It affects children between 2 and 4 years of age.

    Despite symptoms like ataxia (impaired coordination), seizures,visual impairment, delays in language development.and mental deterioration, a child may live to 12 years of age.

    Physicians also refer to Late Infantile NCL as Tpp1 Batten disease because children with this disease either do not have the TPP1 enzyme or it isn’t working properly. In brain and eye cells, the TPP1 enzyme is a degradative enzyme found in lysosomes.

    If these enzymes don’t break down metabolites, waste materials build up in brain and eye cells and cause cognitive and visual symptoms.

    Juvenile NCL — Juvenile NCL, affects children between 5 and 8 years of age.

    Despite symptoms like seizures, speech impairments, mobility problems, cognitive difficulties, impaired vision. ataxia, and seizures, a child may live into their teenage years, with some even living into early adulthood or into their thirties.

    This disorder is also called Batten disease CLN3, Batten-Mayou disease, Batten-Spielmeyer-Vogt disease, CLN3-related neuronal ceroid-lipofuscinosis, juvenile Batten disease, Juvenile cerebroretinal degeneration, juvenile neuronal ceroid lipofuscinosis, and Spielmeyer-Vogt disease.

    Adult NCL — This is also called Kufs disease 2, affects adults before their forties. Although the symptoms are like those experienced by children, they are milder and do not include blindness. Life expectancy is short.

    How Does Batten Disease Affect the Brain?

    Learning and remembering become increasingly difficult because the disease disrupts the functions of the neuron and glial cells of the brain and the neuroglial cells of the central nervous system. As the disease progresses, cognitive losses may culminate in dementia.

    Batten Disease Causes

    There are over 50 varieties of lysosomal storage disorders (LSDs) 3. When lysosomes in neurons and central nervous system (CNS) cells malfunction, they cause cause neurological problems. Lysosomes are organelles in the cytoplasm of cells that secrete a degradative enzyme to destroy waste metabolites.

    When they don’t function properly, waste metabolites do not get flushed out of cells and drained out of the body through the lymphatic system.

    The growing mass of metabolites trigger an alarming cascade of nervous system symptoms.. For instance, a child with Batten disease will first experience personality changes. Seizures and blindness will follow.

    Then, cognitive decline may set in. Later, as the ability to learn progressively decreases, it may lead to dementia. Eventually, a child may also lose the ability to walk and become bedridden.

    Is Batten Disease Hereditary?

    This disease is hereditary and can affect many family members. But an offspring will only get the gene only if both parents are healthy carriers, with a 1-in-4 chance of getting it. Healthy carriers have the mutated gene but are not affected by it.

    How Is Batten Disease Inherited?

    This disease is an autosomal recessive inherited disorder. Since two chromosomes from healthy carriers are necessary for Batten disease inheritance, a child must get one copy from the father and one from the mother.

    Disease-Causing Mutations

    There are at least 10 different categories of mutations, ranging from CLN1 to CLN10. Many factors characterize these mutations — like the age of onset, the gene, the gene subtype, the symptoms, the severity of the symptoms, the rate of symptom progression, and so on.

    Can Batten Disease Be Prevented?

    Medical science cannot prevent Batten disease.

    Batten Disease Risk Factors

    A child may get the disease from parents who are either healthy carriers or who have Batten’s disease.

    How Common Is Batten Disease?

    Batten’s disease is rare. Only 2-to-4 babies out of 100,000 in the United States get it.

    Batten Disease Diagnosis

    An ophthalmologist doing a routine eye examination of a child might discover Batten disease eye, unusual ocular problems symptomatic of Batten disease like Bull’s eye maculopathy 4 or optic nerve apathy.

    Once Batten disease is suspected, the child is usually referred to a specialist in genetic diseases–who may use a wide variety of medical tests to confirm a diagnosis like DNA analysis, enzyme analysis, urinalysis, brain scans, skin biopsies, and blood tests.

    How Do You Test for Batten Disease?

    Doctors can test batten disease in the following ways:

    • A blood test will reveal vacuoles in lymphocytes. It will also reveal elevated levels of the biochemical dolichol.
    • A skin biopsy will reveal excess pigments inside cells.
    • An MRI will reveal brain decay or shrinking.
    • An EEG will reveal the signature brain patterns of seizures.
    • An electroretinogram will reveal eye conditions associated with NCL.
    • An enzyme analysis will reveal abnormal activity of acid protease, CathepsinD, and palmitoyl-protein thioesterase, three enzymes associated with Batten disease.

    Genetic Testing for Batten Disease

    DNA analysis is an excellent way to test for Batten disease. Genetic testing can identify the exact gene responsible for the condition, discover mutated genes in the parents, reveal NCL disease before a child is born, and detect signs of epilepsy.

    Does Batten Disease Occur in Children?

    Doctors consider batten disease a children’s disease, with infantile NCL appearing as early as 6 months, but certain rare types of NCL disease can also appear in adolescence or adulthood.

    Batten Prenatal Diagnosis

    Doctors can detect Batten disease in the womb by taking a chorionic villus sample from the mother. If a fetus has this progressive encephalopathy, electron microscopy will reveal a major mutation 5.

    Batten Disease Treatment Options

    Because no Batten disease cure is currently available attending physicians limit treatment to reducing the severity of the symptoms and their rate of progression.

    According to Batten Disease News, the most effective treatment therapies to ease symptoms are the use of enzyme replacement therapy, anticonvulsant medications, and immunosuppressants. Some experimental therapies like gene therapy and stem cell therapy may also provide symptomatic relief.

    Genetic Counseling for Batten Disease

    Genetic counseling can provide guidance on Batten disease treatment options for people who have Batten disease but show no symptoms, for couples who are healthy carriers and plan to have a baby, or for parents of a child with Batten disease.

    Prognosis

    Over time, symptoms intensify. For instance, vision may blurs to the point of blindness, motor skills deteriorate to the point of immobility, and cognitive decline to the point of dementia.

    Is Batten Disease Fatal?

    Batten disease death occurs because current science cannot stop the progression of severe symptoms.

    Life Expectancy of Batten Disease Patients

    Most children with the disease don’t grow into adults and adults who get it have short life spans.

    Is There a Cure for Batten Disease?

    There is no known cure for Batten disease.

    Batten Disease Outlook

    Palliative care like occupational therapy, physical therapy, and drug therapy can reduce the severity of the symptoms and increase life expectancy. Eventually, those with the disease will eventually need a full-time nurse.

    What to Do If You Suspect Your Child Has Juvenile Batten Disease?

    If you suspect your child has juvenile Batten disease, find a specialist in rare genetic diseases.

    A specialist will recommend a battery of tests like blood tests, urine tests, enzyme tests, and skin biopsies to confirm or disconfirm your suspicions. He or she may also recommend taking images with an MRI scan, CT scan, or EEG scan.

    Conclusion

    Physicians often use batten disease to describe all forms of neuronal ceroid lipofuscinosis (NCL) diseases, although some prefer to restrict the term to just the particular variation Dr. Batten discovered — juvenile neuronal ceroid lipofuscinosis.

    NCLs are sometimes also referred to as Batten-Spielmeyer-Vogt disease.

    This inherited group of diseases manifests during childhood, starting in infancy or showing up during the middle years of childhood. Rare variations occur during adolescence or adulthood.

    The neurological symptoms of the disease arise because waste metabolites accumulate in the cells of the brain and central nervous systems. In CLN2 Batten, doctors suspect the missing or damaged TPP1 enzyme disrupts the recycling of metabolites.

    In CLN3 Batten, the chief suspect is a mutation in the gene that encodes the cln3 protein involved in proper lysosomal functionality.

    At present, science cannot stop Batten disease progression. Palliative treatments can only ease the symptoms and slow down the disease’s rate of progression.

    Despite these overwhelming obstacles, organizations like Batten Disease Foundation are boldly spearheading initiatives to organize funds to improve research into Batten’s disease and vaccines.

    Their Batten disease blog has juvenile batten disease stories along with news about various fundraising drives. Another organization making huge strides to raise awareness and fund research is Batten Disease Support Research Association.

    Additionally, Batten disease awareness is growing in the media.

    FOX 59 article reported how Nathan Milto was the oldest living Batten’s disease survivor and a Batten Disease News article reported a Batten disease clinical trial that was enrolling patients to assess the efficacy of gene therapies.

    Referenced Sources

    1. “Juvenile Neuronal Ceroid Lipofuscinosis (Batten-Mayou) Disease. Ophthalmologic Diagnosis and Findings.”
      Seeliger, M, K Rüther, E Apfelstedt-Sylla, W Schlote, M Wohlrab, and E Zrenner. 1997.
    2. “Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6.”
      Arsov, Todor, Katherine R. Smith, John Damiano, Silvana Franceschetti, Laura Canafoglia, Catherine J. Bromhead, Eva Andermann, et al. 2011.
    3. “Lysosomal Storage Disorders.” Nih.Gov. Landes Bioscience. 2013.
      Ole Kristian Greiner-Tollersrud, and Thomas Berg. 2013.
    4. “Batten Disease: Features to Facilitate Early Diagnosis.”
      Collins, J. 2006.
    5. “Prenatal Diagnosis of Batten’s Disease.”
      Munroe, P B, J Rapola, H M Mitchison, A Mustonen, S E Mole, R M Gardiner, and I Jarvela. 1996.