The cerebellum is a region of the brain that regulates motor control and coordination. In NCL disease, a substance called lipofuscin accumulates in this area. Lipofuszin is a type of pigment that causes the accumulation of waste in cells. This accumulation disrupts the functions of neurons and leads to regression in cognitive and motor abilities. NCL usually shows symptoms in childhood.
What is NCL disease?
NCL, or “cerebellum loss” as it is also known, is a brain disease. It is possible to give the following answer to the question of what NCL stands for:
NCL stands for “Neuronal Ceroid Lipofuscinosis”. NCL disease is a genetically inherited disorder and is usually passed from parents to children.
We can give the following answer to the question of what cerebellum loss is:
NCL disease is a group of diseases caused by excessive accumulation of fat and protein in the brain and other tissues. This buildup can cause cognitive decline, motor decline, epilepsy, vision loss, and other problems. NCL diseases are the most common degenerative brain diseases in childhood.
“What causes NCL disease?” It is possible to say the following for the question:
The cause of NCL disease is due to genetic mutations. NCL diseases can be inherited as autosomal recessive, autosomal dominant or X-linked recessive.
What are the symptoms of NCL disease (cerebellum loss)?
NCL disease has led families and healthcare professionals to seek genetic counseling and support. Awareness of this disease, genetic testing and early diagnosis are important. Researchers continue to work to improve treatments for such rare diseases, and these efforts hold promise for future generations. Symptoms of NCL disease are as follows:
- Cognitive and motor decline
- Epilepsy
- vision loss
Symptoms of cerebellum loss may vary depending on the type of disease and the age of the child. In general, the symptoms of NCL disease are as above. Diagnosis of NCL disease basically starts with family history and physical examination. If NCL is suspected in these 2 findings, blood and urine tests, brain imaging and EEG methods are used.
What are the types of NCL disease?
There are different types of a group of genetic disorders also known as NCL or cerebellum wasting. Genetic mutations underlie NCL, and these mutations lead to different subtypes of the disease. Some basic types of NCL, for which 14 different gene mutations have been identified so far, are as follows:
- Infantile NCL (Santavuori-Haltia Type): It usually begins between 6 months and 2 years of age and is characterized by loss of motor skills, vision problems and seizures in children.
- Late Infantile NCL (Jansky-Bielschowsky Type): It occurs between the ages of 2 and 4, and during this period, regression in motor skills, lack of coordination, visual problems and seizures are observed.
- Juvenile NCL (Batten Disease): It begins between the ages of 5 and 15. This type is marked by decreased school performance, behavioral changes, seizures, and vision problems.
- Adult NCL (Kufs Disease): It usually begins after the age of 30 and includes decline in motor abilities, cognitive problems, speech difficulties and seizures.
- Uldrich Disease (Parakurtinoyl-ALS Variant): This type has symptoms similar to motor neuron disease and usually begins in adulthood.
How is NCL disease treated?
NCL disease is a progressive disease that causes excess fat and protein accumulation in the brain and other tissues. NCL diseases are the most common degenerative brain diseases in childhood. Is there a cure for NCL disease? The answer to the question is “no”. Unfortunately, there is no cure for NCL disease.
Research on new treatments for NCL disease is ongoing. There is no cure for NCL disease, but treatments are available to manage symptoms and improve quality of life. These treatments include medications to treat seizures, therapies to support cognitive function, and treatments to manage vision loss.
Is NCL disease fatal?
NCL disease is a fatal disease. The average life expectancy for NCL disease varies depending on the type of disease.
The cause of death in NCL disease is the progression of brain damage. Brain damage impairs cognitive, motor and behavioral functions. Eventually, this damage becomes severe enough to impair respiratory and heart function and lead to death.
Is cerebellum wasting related to consanguineous marriage?
Cerebellar atrophy does not always occur due to consanguineous marriage, but consanguineous marriage is a risk factor that may cause cerebellum atrophy. This is because consanguineous couples share the same genes more often. This increases the likelihood that a mutation in the same gene will be inherited from both parents and increases the risk of cerebellar atrophy.