What is the definition of Neuronal Ceroid Lipofuscinoses?

Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down through families (inherited).

These are the three main types of NCL:

  • Adult (Kufs or Parry disease)
  • Juvenile (Batten disease)
  • Late infantile (Jansky-Bielschowsky disease)

What are the alternative names for Neuronal Ceroid Lipofuscinoses?

Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs disease; Spielmeyer-Vogt; Haltia-Santavuori disease; Hagberg-Santavuori disease

What are the causes for Neuronal Ceroid Lipofuscinoses?

NCL involves the buildup of an abnormal material called lipofuscin in the brain. NCL is thought to be caused by problems with the brain's ability to remove and recycle proteins.

Lipofuscinoses are inherited as autosomal recessive traits. This means each parent passes on a nonworking copy of the gene for the child to develop the condition.

Only one adult subtype of NCL is inherited as autosomal dominant trait. 

What are the symptoms for Neuronal Ceroid Lipofuscinoses?

Symptoms of NCL include:

  • Abnormally increased muscle tone or spasm
  • Blindness or vision problems
  • Dementia
  • Lack of muscle coordination
  • Intellectual disability
  • Movement disorder
  • Loss of speech
  • Seizures
  • Unsteady walk

What are the current treatments for Neuronal Ceroid Lipofuscinoses?

There is no cure for NCL disorders. Treatment depends on the type of NCL and extent of symptoms. Your health care provider may prescribe muscle relaxants to control irritability and sleep disturbances. Medicines may also be prescribed to control seizures and anxiety. A person with NCL may need lifelong assistance and care.

What are the support groups for Neuronal Ceroid Lipofuscinoses?

The following resources can provide more information on NCL:

  • Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis
  • Batten Disease Support and Research Association -- bdsra.org

What is the outlook (prognosis) for Neuronal Ceroid Lipofuscinoses?

The younger the person is when the disease appears, the greater the risk for disability and early death. Those who develop the disease early can have vision problems that progress to blindness and problems with mental function that get worse. If the disease starts in the first year of life, death by age 10 is likely.

If the disease occurs in adulthood, symptoms will be milder, with no vision loss and a normal life expectancy.

What are the possible complications for Neuronal Ceroid Lipofuscinoses?

These complications can occur:

  • Vision impairment or blindness (with the early-onset forms of the disease)
  • Mental impairment, ranging from severe developmental delays at birth to dementia later in life
  • Rigid muscles (due to severe problems with the nerves that control muscle tone)

The person may become totally dependent on others for help with daily activities.

When should I contact a medical professional for Neuronal Ceroid Lipofuscinoses?

Call your provider if your child shows symptoms of blindness or intellectual disability.

How do I prevent Neuronal Ceroid Lipofuscinoses?

Genetic counseling is recommended if your family has a known history of NCL. Prenatal tests, or a test called preimplantation genetic diagnosis (PGD), may be available, depending on the specific type of disease. In PGD, an embryo is tested for abnormalities before it is implanted in the woman's womb.

REFERENCES

Elitt CM, Volpe JJ. Degenerative disorders of the newborn. In: Volpe JJ, Inder TE, Darras BT, et al, eds. Volpe's Neurology of the Newborn. 6th ed. Philadelphia, PA: Elsevier; 2018:chap 29.

Glykys J, Sims KB. The neuronal ceroid lipofuscinosis disorders. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Elsevier; 2017:chap 48.

Grabowski GA, Burrow AT, Leslie ND, Prada CE. Lysosomal storage diseases. In: Orkin SH, Fisher DE, Ginsburg D, Look AT, Lux SE, Nathan DG, eds. Nathan and Oski's Hematology and Oncology of Infancy and Childhood. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 25.

  • Condition: Neuronal Ceroid Lipofuscinosis Type 2
  • Journal: Journal of child neurology
  • Treatment Used: Cerliponase Alfa
  • Number of Patients: 0
  • Published —
In this study, researchers evaluated the safety and effectiveness of cerliponase alfa for the treatment of neuronal ceroid lipofuscinosis type 2.
  • Condition: CLN2 Disease
  • Journal: Clinical immunology (Orlando, Fla.)
  • Treatment Used: Intracerebroventricular (ICV)-Delivered Cerliponase Alfa Enzyme Replacement Therapy (ERT)
  • Number of Patients: 24
  • Published —
This study evaluated the safety and effectiveness of intracerebroventricular (ICV)-delivered cerliponase alfa enzyme replacement therapy (ERT) (injection directly into the cerebrospinal fluid to bypass the blood-brain barrier) for the treatment of patients with CLN2 disease.