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Mysterious neurodegeneration: What is neuropathic lipofuscinosis? Learn the secrets of this rare disease!
Neurosphingolipofuscinosis (NCL) is a group of rare neurodegenerative diseases caused by excessive accumulation of lipofuscin in body tissues. These substances, lipofuscin, are made up of fat and protein, and appear greenish-yellow when viewed under an ultraviolet microscope. Accumulation of sphingolipofuscin occurs primarily in nerve cells and multiple organs, including the liver, spleen, myocardium, and kidneys, leading to a progressive loss of motor and mental function.
According to statistics, the incidence of sphingolipofuscinosis is slightly higher in the United States and Northern Europe, with an incidence of approximately one case per 10,000 people.
Typical symptoms and manifestations
NCL is characterized by a progressive loss of motor and mental abilities accompanied by severe intracellular accumulation of lipofuscin. According to age and when symptoms appear, they can be divided into four categories:
- Early infantile form (INCL): Vision loss usually occurs before the age of 2 years, followed by a vegetative state at age 3 years, and confirmed brain death at age 4 years.
- Late-onset infantile form: usually develops between 2 and 4 years of age, is accompanied by epilepsy and visual deterioration, and the longest life expectancy is 10 to 12 years.
- Juvenile form (JNCL or Batten disease): Appears between the ages of 4 and 10, with vision loss, seizures, and mental deterioration, and life expectancy is about 20-30 years.
- Adult-onset (ANCL or Kuf's disease): Symptoms are usually milder, begin around age 30, and are fatal in about 10 years.
Genetic inheritance
Childhood NCL is usually an autosomal recessive disease, meaning that when both parents carry the defective gene, their children have a one in four chance of being affected. The most common known associated genetic variant is in the CLN3 gene. Adult-onset NCL can be divided into autosomal recessive (Kufs type) and less common autosomal dominant (Parry type) forms.
Many experts believe that the complex of symptoms of sphingolipofuscinosis is often collectively referred to as Batten disease.
Diagnostic Methods
Because vision loss is an early and common symptom, ophthalmologists often first suspect NCL. The diagnosis of NCL requires consideration of the patient's medical history and multiple test results. Commonly used tests include:
- Tissue sampling: Inspection of the skin or other tissues for typical NCL deposits, which have shapes specific to each type of NCL.
- EEG: This test can detect abnormalities in nerve activity in the brain to diagnose epilepsy.
- Imaging tests: such as CT or MRI, can show structural changes in the brain.
Currently, there is no recognized treatment that can cure or alleviate the symptoms of NCL, but epilepsy can be controlled with anti-epileptic drugs. In addition, physical therapy, speech therapy, and occupational therapy can help people maintain as much function as possible. Several experimental therapies are being studied.
On April 27, 2017, the U.S. FDA approved cerliponase alfa (Brineura), the first therapeutic drug specifically for NCL.
Like many rare diseases, our understanding of sphingolipofuscinosis is still evolving, with new research and treatments constantly being proposed. In the face of such a disease, how can our society provide support and understanding so that patients and their families can gain hope and help?
