Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. Although the NCLs were historically classified according to their age of onset and clinical features, the most recent classification system is primarily based on their underlying genetic cause. Most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form (neuronal ceroid lipofuscinosis 4B). Treatment options are limited to therapies that can help relieve some of the symptoms.
Causes:
Lipofuscinoses are inherited as autosomal recessive traits. NCLS involves the buildup of an abnormal material called lipofuscin in the brain. NCLS is thought to be caused by problems with the brain’s ability to remove and recycle proteins.
Symptoms
- Abnormally increased muscle tone or spasm (myoclonus)
- Blindness or vision problems
- Dementia
- Lack of muscle coordination
- Intellectual disability
- Movement disorder (choreoathetosis)
- Seizures
- Unsteady walk (ataxia)
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormal electroretinogram | Very frequent (present in 80%-99% of cases) |
| Abnormality of the retinal vasculature | Very frequent (present in 80%-99% of cases) |
| EEG abnormality | Very frequent (present in 80%-99% of cases) |
| Intellectual disability | Very frequent (present in 80%-99% of cases) |
| Mental deterioration | Very frequent (present in 80%-99% of cases) |
| Muscular hypotonia | Very frequent (present in 80%-99% of cases) |
| Ocular albinism | Very frequent (present in 80%-99% of cases) |
| Seizures | Very frequent (present in 80%-99% of cases) |
| Visual impairment | Very frequent (present in 80%-99% of cases) |
| Visual loss | Very frequent (present in 80%-99% of cases) |
Possible Complications
- 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.
Treatments:
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