Neuronal ceroid lipofuscinosis is a group of inherited neurodegenerative diseases that affect people of different ages and ethnicities. Lipopigments accumulate in nerve cells, causing damage and destruction. There is no cure, and patients eventually become dependent on caregivers.
The term “neuronal ceroid lipofuscinosis” refers to a family of inherited neurodegenerative diseases that lead to death. The conditions can occur in infants, children, and adults. Symptoms and life expectancy vary according to the type of disorder and the patient’s age at onset.
These disorders occur when genetic mutations inhibit the production of certain enzymes that break down or reuse proteins in the brain. Lipopigments, which are substances made up of proteins and fats, accumulate in body tissues. They accumulate in nerve cells, where they damage and destroy cell tissue.
The neuronal disorders of ceroid lipofuscinosis are autosomal recessive; in other words, a child must inherit two copies of the faulty gene to develop the condition. This disease affects people of some ethnic backgrounds more than others. People of Turkish, Finnish, Czechoslovakian, Pakistani, or Indian descent are at higher risk than people of other ethnicities.
These disorders are classified according to age of onset. Jansky-Bielschowski disease, for example, occurs in late infancy or early childhood. Patients develop epilepsy or seizures, lack of muscle coordination, vision loss, and mental decline.
Batten disease typically affects children 5-10 years old. Children who have this disorder also suffer from vision loss, seizures, and cognitive impairment. Jansky-Bielschowski disease and Batten disease gradually worsen and eventually lead to death, often before early adulthood. Children who develop symptoms of neuronal ceroid lipofuscinosis before the age of 1 year rarely survive the first decade of life.
Adults develop a version of neuronal ceroid lipofuscinosis called Kufs disease or Parry disease. Symptoms are less severe than those of Batten disease or Jansky-Bielschowski disease. Adults develop many of the same symptoms as children, such as motor coordination problems and seizures, but do not usually lose their vision. Patients who develop the condition in adulthood can expect a relatively normal life expectancy.
Doctors diagnose the neuronal disorders of ceroid lipofuscinosis by performing a series of tests. They do blood tests to measure the levels of enzymes within the body and monitor the levels of electrical activity within the brain by doing electroencephalogram (EEG) tests. They might also do tissue or skin biopsies, genetic testing, or vision screenings.
As of early 2011, there was no specific cure or treatment for neuronal ceroid lipofuscinosis. Doctors prescribe medications to control seizures. Most patients with these disorders eventually become completely dependent on their caregivers as the condition progresses.
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