What is Batten Disease
Batten disease is a lysosomal storage disorder that’s caused by a buildup of lipopigments in the patient’s body tissues.
Batten disease is also known as Kufs disease or neurological ceroid lipofuscinosis (NCLS)
It is a group of multiple sclerosis (MS) conditions marked by vision loss and seizures, as well as severe motor and cognitive problems.
Batten disease or neuronal ceroid lipofuscinoses (NCL) disease occurs when brain cells begin to proliferate abnormally, due to genetic factors, environmental influences, or certain medications.
These abnormal brain cells produce a protein called v glutathione (VGH).
When the body produces an excess amount of this chemical, it leads to excess production of free radicals, or oxidative stress.
What Causes Batten disease?
Batten disease is an autosomal recessive disease, caused by the abnormal growth of the brain and spinal cord tissues that affect the processing of nerve signals.
Batten disease is a broad term used for inherited diseases of the nervous coordination system, also known medically as neuronal ceroid lipofuscinoses (NCLs).
It occurs when the specific gene causing this abnormality is defective in both the father and mother of the victim.
The optic nerve, which is affected in most cases, passes through the area where the affected nerves are located.
In most patients with this condition, the optic nerve becomes infected, and it leads to the death of the brain neurons.
This leads to seizures, decreased vision, and other symptoms common to MS.
If left untreated, the disease can progress and affect the function of the eyes, as well as other areas of the body.
Triggers of Batten Disease
A variety of different genetic disorders are believed to cause Batten disease, the same way batten disease can trigger other diseases, for example, Dementia.
Some examples of the disorders that can cause Batten’s disease are the following.
- Cystic fibrosis
- Klinefelter-Arden disease
- Familial dysautonomia
- Neurectomy of the cerebellum
- Parkinson’s disease
- Hereditary optic atrophy
- Multiple sclerosis
Environmental risk factors that have been implicated in relation to this disorder are the following.
- Heavy metals
- Electromagnetic radiation
Neuroimmune disorders, such as multiple sclerosis and other neurologic disorders, and chronic viral infections such as hepatitis B and shingles, are also believed to have some effective link with this disorder.
Batten disease also shares many of the same risk factors as other neurogenic diseases such as Parkinson’s and Huntington’s.
Symptoms of Batten disease
The symptoms of this disease type are varied but generally include the following.
- Severely decreased vision
- Decreased muscle and joint function
The brain cells of affected individuals are often affected in a similar way, and thus there can be difficulty recovering from these symptoms.
Because the symptoms of this neurodegenerative disorder can mimic those of more serious illnesses, it is absolutely critical that anyone whose family has a history of stroke or cardiac problems check with their doctor before taking their medicine.
In fact, most symptoms of Batten disease will not appear until one person is diagnosed with either a heart problem or a stroke, and then those afflicted with this neurodegenerative disorder are often misdiagnosed as having influenza or other viral illnesses.
These stressors cause numerous symptoms, including neurological damage.
Vision loss is often seen in individuals with Batten’s disease.
Diagnosis of Batten Disease
This type of genetic abnormality is usually caused by something called a gene mutation, which is essentially a change to the DNA strand.
Two copies of the genes that cause autosomal recessive are usually caused by genetic abnormalities on one copy of the chromosome, while only one copy is caused by a mutation on the other copy.
Due to the tendency for autosomal recessive disorders to cause diseases only when one of the chromosomes is mutated, it can be difficult to determine whether or not a particular person carries two copies of the genetic disorder.
A simple DNA test called a DNA test can sometimes help to determine if a person does or doesn’t carry one copy of the disorder.
Batten’s disease can have many different symptoms. In addition to the changes in mental status that come with the loss of motor skills, many of these symptoms are similar to those of other forms of dementia and Alzheimer’s disease.
Because many of these symptoms overlap in time, researchers often conduct multi-study studies in an attempt to determine whether or not two separate diseases are actually being represented by the same type of symptoms.
Studies that directly compare symptoms between two groups of patients with the same disease are particularly useful because it gives researchers an idea of how widespread the disorder is and what kind of symptoms may be expected in a patient given their situation.
Treatment of Batten’s disease
Batten’s disease is considered a very serious condition, and treatment should be administered promptly upon detection.
Because most cases of Batten disease are not diagnosed until much later in life, it can have a number of devastating effects on victims.
In many instances, the victim will go undiagnosed until he or she shows signs of having a stroke or other cardiac problems.
Medical imaging studies can sometimes help point doctors in the right direction, but it is important that patients be aware of what to look for at home, as well.
Although there is currently no cure for these disorders, medications used to treat these neurological disorders are available to improve the chances of prolonging the lives of sufferers.
Medications used to treat Parkinson’s and Huntington’s disease are known to relieve symptoms of both neurogenic disorders, while Batten’s disease only affects one area of the body.
While medications for both types of neurogenic disorders can cause similar side effects, it may be beneficial to begin treatment of Batten’s disease with these medications first, in order to minimize the possible side effects of these drugs.
The most common genetic defect in humans is the autosomal recessive inheritance of two copies of chromosome number 11.