Jansky–Bielschowsky disease

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Jansky–Bielschowsky disease
Synonyms	Late infantile neuronal ceroid lipofuscinosis, CLN2 disease
Pronounce	N/A
Specialty	Neurology, Genetics
Symptoms	Seizures, vision loss, motor deterioration, cognitive decline
Complications	N/A
Onset	Childhood
Duration	Progressive
Types	N/A
Causes	Mutations in the TPP1 gene
Risks	Family history of the disease
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Other forms of neuronal ceroid lipofuscinosis
Prevention	N/A
Treatment	Symptomatic treatment, enzyme replacement therapy
Medication	N/A
Prognosis	Poor
Frequency	Rare
Deaths	N/A

Jansky–Bielschowsky disease is a rare, neurodegenerative disorder characterized by progressive vision loss, intellectual disability, and motor dysfunction. It is a variant of Batten disease, which is a group of disorders known as neuronal ceroid lipofuscinoses (NCLs).

Symptoms

The symptoms of Jansky–Bielschowsky disease typically begin between ages 5 and 10. The first signs of the disease are usually vision problems, including blindness, due to degeneration of the retina. This is followed by intellectual disability, loss of motor skills, and seizures.

Causes

Jansky–Bielschowsky disease is caused by mutations in the CLN3 gene. This gene provides instructions for making a protein that is found in many tissues and organs, but its function is not well understood. Mutations in the CLN3 gene lead to a shortage (deficiency) of the CLN3 protein, which disrupts the normal functioning of cells, particularly cells in the brain and retina.

Diagnosis

Diagnosis of Jansky–Bielschowsky disease is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include blood tests, urine tests, skin or tissue sampling, and detailed neurological and ophthalmological evaluations.

Treatment

There is currently no cure for Jansky–Bielschowsky disease. Treatment is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of specialists, including pediatricians, neurologists, ophthalmologists, and other healthcare professionals.

Prognosis

The prognosis for individuals with Jansky–Bielschowsky disease is poor. Most individuals with the disease live into their teens or early twenties.

See also

• Batten disease
• Neuronal ceroid lipofuscinoses
• CLN3