Batten disease

A rare, fatal autosomal recessive neurodegenerative disorder

Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), is a group of rare, fatal, inherited disorders of the nervous system that typically begin in childhood. It is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses.

Overview

Batten disease is characterized by the accumulation of lipopigments in the body's tissues. These lipopigments are made up of fats and proteins. The name of the disease comes from the British pediatrician Frederick Batten, who first described the juvenile form of the disease in 1903.

Symptoms

The symptoms of Batten disease vary depending on the specific type and age of onset, but they generally include:

• Progressive vision loss leading to blindness
• Seizures
• Movement disorders
• Dementia
• Behavioral changes
• Loss of motor skills

Types

Batten disease is classified into several types based on the age of onset and the specific genetic mutation involved:

• Infantile NCL (INCL): Symptoms appear between 6 months and 2 years of age.
• Late Infantile NCL (LINCL): Symptoms appear between ages 2 and 4.
• Juvenile NCL (JNCL): Symptoms appear between ages 5 and 8.
• Adult NCL (ANCL): Symptoms appear in adulthood.

Genetics

Batten disease is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagnosis

Diagnosis of Batten disease involves a combination of clinical evaluation, genetic testing, and laboratory tests. These may include:

• Electroencephalogram (EEG)
• Magnetic resonance imaging (MRI)
• Genetic testing
• Enzyme assay

Treatment

Currently, there is no cure for Batten disease, and treatment is symptomatic and supportive. Management may include:

• Anticonvulsant medications to control seizures
• Physical therapy
• Occupational therapy
• Educational support

Prognosis

The prognosis for individuals with Batten disease is poor, as it is a progressive and fatal disorder. The rate of progression and life expectancy vary depending on the type of Batten disease.

Research

Research is ongoing to find better treatments and ultimately a cure for Batten disease. This includes studies on gene therapy, enzyme replacement therapy, and other potential therapeutic approaches.

Related pages

• Neurodegenerative disease
• Genetic disorder
• Seizure disorder