Ceroid lipofuscinois, neuronal 5, late infantile

Ceroid lipofuscinosis, neuronal 5, late infantile
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Seizures, vision loss, motor deterioration
Complications	N/A
Onset	Late infancy
Duration	Progressive
Types	N/A
Causes	Genetic mutation in the CLN5 gene
Risks	N/A
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic and supportive care
Medication	N/A
Prognosis	Poor
Frequency	N/A
Deaths	N/A

Ceroid lipofuscinosis, neuronal 5, late infantile (CLN5) is a rare, inherited neurodegenerative disorder that belongs to a group of conditions known as neuronal ceroid lipofuscinoses (NCLs). These disorders are characterized by the accumulation of lipopigments (lipofuscin) in the body's tissues, leading to progressive neurological impairment.

Genetics

CLN5 is caused by mutations in the CLN5 gene, which is located on chromosome 13. This gene encodes a protein that is involved in lysosomal function, although its exact role is not fully understood. Mutations in the CLN5 gene disrupt normal lysosomal activity, leading to the accumulation of ceroid lipofuscin in neurons and other cells.

Clinical Presentation

The onset of CLN5 typically occurs in late infancy, usually between the ages of 4 and 7 years. The initial symptoms often include:

• Seizures
• Progressive vision loss
• Decline in motor skills
• Cognitive deterioration

As the disease progresses, affected individuals may experience:

• Loss of speech
• Loss of mobility
• Behavioral changes
• Early death, often in the second decade of life

Diagnosis

Diagnosis of CLN5 is based on clinical evaluation, family history, and genetic testing. The presence of characteristic symptoms, along with the identification of mutations in the CLN5 gene, confirms the diagnosis. Additional tests, such as electroencephalogram (EEG) and magnetic resonance imaging (MRI), may be used to assess neurological function and brain structure.

Treatment

Currently, there is no cure for CLN5. Treatment is primarily supportive and focuses on managing symptoms. This may include:

• Antiepileptic drugs to control seizures
• Physical therapy to maintain mobility
• Occupational therapy to assist with daily activities
• Vision aids for those with visual impairment

Prognosis

The prognosis for individuals with CLN5 is poor, with progressive neurological decline leading to early death. Research is ongoing to better understand the disease and develop potential therapies.

Research

Research into CLN5 and other forms of NCL is focused on understanding the underlying mechanisms of the disease and developing targeted treatments. Gene therapy and enzyme replacement therapy are areas of active investigation.

Also see

• Neuronal ceroid lipofuscinosis
• Lysosomal storage disease
• Genetic disorder
• Neurodegenerative disease