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Batten's syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Batten's syndrome is a recessively inherited neurodegenerative condition involving a lysosomal storage defect. It is caused by abnormal storage of cerebral lipofuscins.

There are a number of other names that are used to refer to this condition, depending on the age of onset:

  • Haltia-Santavuori syndrome, for the infantile type
  • Jansky-Bielschowsky syndrome, for the late infantile type
  • Spielmeyer-Vogt syndrome, for the juvenile type

In addition this condition is sometimes known as familial amaurotic familial idiocy or as lipofuscinosis.

The gene involved in this syndrome is on chromosome 16.

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