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NCL diagnostic protocol
NCL Clinical Symptoms
Light microscopy
Vacuoles in
lymphocytes
Mutation analysis
CLN3
No vacuoles in
lymphocytes
Enzyme analysis
Mutation analysis
PPT1, TPP1 or CTSD
CLN1, CLN2 or CTSD
enzyme deficiency
Not CLN1, CLN2,
CTSD
Electron microscopy
Typical NCL
deposits
Mutation analysis
other NCL genes
CLN3, CLN5, CLN6,
CLN7, CLN8
Typical NCL deposits,
not known NCL gene
Store research samples
DNA, fibroblast cell line
Mutation analysis
novel NCL genes
www.ucl.ac.uk/ncl
March 2007
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