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Batten disease

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Definition

noun

A neurodegenerative disorder characterized by an excessive accumulation of lipofuscin in cells and tissues due to a pathological mutation in gene (e.g. CLN3 gene, in juvenile type of the disease)


Supplement

Neuronal ceroid lipofuscinosis is a neurodegenerative disorder wherein there is an excess of lipofuscin in cells. Lipofuscin is a pigmented lipid granule and a residue of lysosomal digestion. Neuronal ceroid lipofuscinosis is classified into ten types according to the associated gene. All forms of neuronal ceroid lipofuscinosis is sometimes collectively called as Batten disease. However, the juvenile form (or type 3) of neuronal ceroid lipofuscinosis, in particular, is often the one regarded as the Batten disease. The juvenile form is associated with CLN3 gene. In humans, the gene is located on chromosome 16 and codes for battenin, a transmembrane protein that takes part in lysosomal function.

The condition is inherited in an autosomal recessive pattern. This means that the individual has two copies of the defective gene and therefore manifests symptoms associated with the disease. A carrier of the disease would have only one copy of the defective gene and therefore may not show symptoms.

Batten disease starts at the age of five to eight years. Some of the symptoms include seizures, ataxia, vision impairment, and clumsiness.


Synonym(s):

  • juvenile neuronal ceroid lipofuscinosis
  • neuronal ceroid lipofuscinosis type 3
  • Spielmeyer-Vogt-Sjögren-Batten disease
  • Batten-Mayou disease
  • Vogt-Spielmeyer disease
  • juvenile Batten disease

See also: