About batten disease

What is batten disease?

Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatty, granular substances (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body that may result in progressive deterioration (atrophy) of certain areas of the brain, neurological impairment, and other characteristic symptoms and physical findings.

The symptoms of Batten disease usually become apparent between 5 and 15 years of age when progressive loss of vision, seizures, and progressive neurological degeneration develop. In some cases, initial symptoms may be more vague and include clumsiness, balance problems and behavioral or personality changes. Batten disease is inherited as an autosomal recessive trait and occurs most in families of Northern European or Scandinavian ancestry and is found worldwide.

For years, the term Batten disease was used to describe the chronic juvenile form of NCL (JNCL). Recently, some researchers have begun using the term Batten disease to encompass all types of neuronal ceroid lipofuscinoses.

What are the symptoms for batten disease?

Over time, Batten disease damages the brain and nervous system. There are four main types of this condition. These are their common symptoms:

There are four major types of Batten disease. The type will determine the age when symptoms occur and how fast they develop. There is no cure for these disorders but a treatment for one of the forms (CLN2 disease) has been approved by the U.S. Food and Drug Administration in 2017 (See below).  

What are the causes for batten disease?

Batten disease is the common name for a group of lysosomal storage disorders called neuronal ceroid lipofuscinoses. There are 14 forms of the disease, and they primarily affect the eyes and the central nervous system. The diseases can be classified into four groups: infantile, late-infantile, juvenile, and adult-onset forms. Patients commonly present progressive cognitive and visual impairments, epileptic seizures, and deterioration of motor skills and balance issues.

1. A lysosome is a cell organelle that plays a crucial role in the breakdown and recycling of endogenous and internalized molecules, nutrient sensing, calcium, and bio-metal homeostasis. Specifically, in neurons, it is responsible for cell growth, axonal transport, and synaptic homeostasis.
Lysosomes have a wide variety of enzyme systems that carry out the processes involved in the functions of the organelle.
2. The causative genetic mutations lead to functional defects in or deficiency of proteins involved in the functioning of the endolysosomal system.
3. These proteins can be soluble lysosomal or cytosolic enzymes or insoluble transmembrane proteins.
4. The phenotype resulting from these defects is the pathognomonic accumulation of a yellow-brown autofluorescent pigment called ceroid lipofuscin that leads to dysregulated autophagy, progressive glial activation, and neuronal cell death within the nervous system.

Vision loss,Seizures,Delay and eventual loss of skills previously acquired,Dementia,Abnormal movements
Lysosomal storage disorder
Cerliponase alfa for CLN2,Antiseizure drugs,Muscle relaxants,Antidepressants, and levodopa for symptoms

What are the treatments for batten disease?

Batten disease represents a group of childhood neurodegenerative diseases that are characterized by abnormal accumulation of an auto-fluorescent pigment called ceroid lipofuscin. It is caused by genetic mutations that disrupt the endolysosomal system and commonly begins to present with clinical manifestations at the age of about six years.
Based on the age of onset of the clinical manifestations, the diseases were classified into four groups: infantile, late-infantile, juvenile, and adult-onset forms. Common symptoms include vision loss, seizures, delay and eventual loss of skills previously acquired, dementia, and abnormal movements.

1. Currently, there is only one drug that has received approval from the Food and Drug Administration (FDA). Cerliponase alfa, approved in 2017, is a recombinant form of the enzyme affected in CLN2 disease. It has been demonstrated to delay the progression of retinal pathology and other neurological deficits.
2. Other medicines such as antiseizure drugs, muscle relaxants, antidepressants, and levodopa help to manage the symptoms.
3. With the advances in therapeutics, prospective cures are giving hope to patients in the future.
4. Gene therapy mediated by adenovirus in many clinical trials has shown improved tolerability.
5. Various small molecules, RNA-based therapeutics, and stem cell therapies are under clinical trials. 6. They can be expected to gain approval in the future.

Asymptomatic, unless rupture in the vessels,Thunderbolt headaches,Nausea,Vomiting when ruptured
Breakdown of arterial wall integrity in brain

What are the risk factors for batten disease?

Batten disease is usually referred to as a wide class of fatal, rare, inherited disorders of the nervous system. Batten disease is also called neuronal ceroid lipofuscinoses (NCL). In such disorders, a defect in a specific gene stimulates a cascade of issues that are likely to interfere with the competency of the cell to recycle definite molecules. The disease possesses different forms that have similar symptoms and features but are evident to vary in age and severity when the symptoms first appear. Each form is triggered by a mutation in a different gene.

Risk Factors
1. Batten disease was primarily referred to as the juvenile-onset form of neuronal ceroid lipofuscinoses (NCL). However, the term Batten disease is increasingly used to depict all types of neuronal ceroid lipofuscinoses (NCL).
2. Children are highly vulnerable to developing Batten disease if their parents possess this disease.
3. Additionally, children whose parents are carriers of the neuronal ceroid lipofuscinoses (NCL) gene that stimulates Batten disorder are at high risk for this disorder.
4. For an infant having Batten disease, both parents must pass a copy of the faulty gene that triggers this disease. Batten disease affects the body’s competency to break down and eliminate cellular waste.
5. The sugars, lipids and proteins building within the body affects the brain cells, thereby, restricting the functional mechanism of the body.

Asymptomatic, unless rupture in the vessels,Thunderbolt headaches,Nausea,Vomiting when ruptured
Breakdown of arterial wall integrity in brain

Is there a cure/medications for batten disease?

Batten disease is a class of fatal genetic disorders. There are usually 13 types, and it is evident to affect the body's competency to eliminate cellular waste such as proteins and lipids. In this condition, the accumulation of cellular waste takes place in the cells. The buildup is likely to trigger vision loss, seizures, issues with coordination and thinking, and sometimes death. Healthcare professionals are examining different promising medications that can reduce the pace of progression of symptoms, thereby enhancing the child’s quality of life.

Cure and medications
1. There is only one FDA-approved treatment currently. This is only for children with Batten disease.
2. Children receive infusions of a drug called cerliponase alfa, such as Brineura, every two weeks.
3. The healthcare providers inject the drug directly into the fluid surrounding the brain of the child.
4. The medicine is likely to decrease the loss of the ability to walk or crawl.
5. Conversely, the medicine is incompetent to reduce other definite symptoms of Batten disease.
6. Thus, researchers are examining different promising treatments for the disease.
7. These include stem cell transplants, medications, and gene therapy to replace the faulty gene.
8. Until specific treatments for Batten disease are available, the healthcare providers emphasize treating the symptoms of the disease.
9. Hence, it can be noted that there is no cure for Batten disease to date.
10. Children having this disease have a team of healthcare providers to address different symptoms of the disorder.
11. The team may prescribe drugs to prevent hallucinations or medications from controlling seizures or epilepsy.
12. Occupational and physical therapy can also help relieve muscle spasticity in certain children, retaining mobility in the long run.

Asymptomatic, unless rupture in the vessels,Thunderbolt headaches,Nausea,Vomiting when ruptured
Breakdown of arterial wall integrity in brain

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