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About Batten Disease

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Batten Disease is the common name for a group of diseases  called the Neuronal Ceroid Lipofuscinoses (NCLs).   They are rare, genetic, progressive neurodegenerative diseases that occur in children and adults worldwide.  Batten Disease is the main paediatric neuro-degenerative disorder in the UK. 

It affects 1:30,000 births and there are approximately 200 affected children and young adults in the UK. They are born apparently healthy, develop epilepsy, and lose their sight, speech, mental and motor abilities before dying between the ages of 5-30. There are 3 main types of Batten Disease, affecting children at different ages depending on which defective gene has been inherited, traditionally called Infantile, Late Infantile and Juvenile Batten Disease. There is also a congenital form and other variants of the disease. There is much research into all types, but no cure at present.

 

Forms of NCL

 

NCL Type

Gene

Age at onset

 

Infantile (INCL)
Santavuori-Haltia

 

 

CLN1

 

6 months - 2 years

 

Late Infantile (LINCL)
Jansky-Bielschowsky

 

 

CLN2, CLN5, CLN6 and CLN7

 

2-4 years

 

Juvenile (JNCL)
Batten or Spielmeyer-Vogt

 

 

CLN3

 

5-9 years

 

Adult
Kuf's or Parrys

 

 

CLN4

 

Before the age of 40