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Adult neuronal ceroid lipofuscinosis

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Other Names: Adult NCL; Kuf's disease; ANCL; Neuronal ceroid lipofuscinosis 4; CLN4 disease, adult autosomal dominant; Kufs disease

Adult neuronal ceroid lipofuscinosis is a rare condition that affects the nervous system.

onset

Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood.

Types

There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic cause, mode of inheritance and certain symptoms:

  • Type A is characterized by a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy); dementia; difficulties with muscle coordination (ataxia); involuntary movements such as tremors or tics; and dysarthria.
  • Type B shares many features with type A; however, affected people also experience behavioral abnormalities and do not develop myoclonic epilepsy or dysarthria.

Epidemiology

CLN4 disease is a rare disorder, but its prevalence is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide.

Cause and inheritance

Type A

It is caused by changes (mutations) in the CLN6 or PPT1 gene and is inherited in an autosomal recessive manner.

Type B

It can be caused by mutations in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner.

Signs and symptoms

People with CLN4 disease often develop seizures and uncontrollable muscle jerks (myoclonic epilepsy), a decline in intellectual function (dementia), problems with coordination and balance (ataxia), tremors or other involuntary movements (motor tics), and speech difficulties (dysarthria). The signs and symptoms of CLN4 disease worsen over time, and affected individuals usually survive about 15 years after the disorder begins.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

  • Abnormal pyramidal sign
  • Abnormality of extrapyramidal motor function
  • Ataxia
  • Dementia(Dementia, progressive)
  • Generalized myoclonic seizure
  • Motor deterioration(Progressive degeneration of movement)
  • Myoclonus
  • Orofacial dyskinesia
  • Psychotic episodes

5%-29% of people have these symptoms

  • Optic atrophy
  • Visual loss(Loss of vision)

Diagnosis

Diagnosis is usually done by performing genetic analysis (e.g. Sequencing, Genotyping) when there is reason to suspect Kufs disease. Clinicians may order such tests when the common phenotypes of Kufs disease are observed in patients in order to confirm the diagnosis.

Treatment

Treatment options for adult neuronal ceroid lipofuscinosis are limited to therapies that can help relieve some of the symptoms.

Prognosis

Unfortunately, the long-term outlook (prognosis) for people with adult neuronal ceroid lipofuscinosis is generally poor. The symptoms tend to become worse over time, resulting in a shortened life expectancy. Most sources state that a person with adult neuronal ceroid lipofuscinosis usually lives about 10 years after the symptoms begin.

NIH genetic and rare disease info

Adult neuronal ceroid lipofuscinosis is a rare disease.


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