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Batten disease

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Autosomal recessive for all the childhood variants of NCL (neuronal ceroid lipofuscinoses), however it is thought that some of the rare adult forms (Kuf's disease) can be inherited in an autosomal dominant way.

Prenatal diagnosis
Prenatal diagnosis is available in the UK within the National Health Service for families in which the histology and genetics are known for an affected child. At present this covers types caused by mutations in the genes CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10. Prenatal diagnosis is done using a chorionic villus sample which is split and sent for ultrastructural analysis, DNA mutation testing (all types) and enzyme analysis (CLN1, CLN2, CLN10/CTSD).

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Medical text written January 2008, Batten Disease Family Association. Approved January 2008 by Dr Ruth Williams, Consultant Paediatric Neurologist, Guy's Hospital, London, UK and Sara Mole, Reader in Molecular Cell Biology, University College London, UK.

 

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