Jansky-Bielschowsky disease

=Jansky-Bielschowsky Disease = Jansky-Bielschowsky disease, also known as Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL), is a rare, inherited neurodegenerative disorder that primarily affects children. It is one of the forms of Neuronal Ceroid Lipofuscinosis (NCL), a group of disorders characterized by the accumulation of lipopigments in the body's tissues.

Clinical Features

The disease typically presents between the ages of 2 and 4 years. Initial symptoms often include:

• Progressive loss of motor skills
• Seizures
• Visual impairment
• Cognitive decline

As the disease progresses, children may experience:

• Loss of speech
• Muscle rigidity
• Dementia

Pathophysiology

Jansky-Bielschowsky disease is caused by mutations in the CLN2 gene, which encodes the enzyme tripeptidyl peptidase 1 (TPP1). This enzyme is crucial for the breakdown of certain proteins within lysosomes. Mutations lead to the accumulation of lipofuscins, which are autofluorescent storage materials, in neurons and other cells.

Diagnosis

Diagnosis is based on clinical presentation, genetic testing, and sometimes enzyme activity assays. MRI and EEG may show characteristic patterns, but genetic testing for mutations in the CLN2 gene is definitive.

Treatment

Currently, there is no cure for Jansky-Bielschowsky disease. Treatment focuses on managing symptoms and may include:

• Anticonvulsants for seizures
• Physical therapy
• Supportive care

Recently, enzyme replacement therapy with cerliponase alfa has been approved for use in some patients, which may slow disease progression.

Prognosis

The prognosis for children with Jansky-Bielschowsky disease is poor. Most affected individuals do not survive beyond their teenage years.

Research

Ongoing research is focused on gene therapy, enzyme replacement, and other potential treatments to slow or halt the progression of the disease.

See Also

• Neuronal Ceroid Lipofuscinosis
• CLN2 gene
• Lysosomal storage disorders
• Mole, S. E., Williams, R. E., & Goebel, H. H. (2011). The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford University Press.
• Schulz, A., Kohlschuetter, A., Mink, J., Simonati, A., & Williams, R. (2013). NCL diseases clinical perspectives. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1832(11), 1801-1806.

NIH genetic and rare disease info

• NIH info on Jansky-Bielschowsky disease

Jansky-Bielschowsky disease is a rare disease.