Table 1 General description of CLN2 disease, statements and consensus data

Within CLN2, two forms of disease evolution exist; classical CLN2 is where symptoms start earlier, between the ages of 3 and 5 years and the symptoms evolve faster. While Non-classical CLN2 has a much slower disease evolution and symptoms appear as behavioural disorders, movement disorders and ataxia rather than seizures and blindness

41

C

82

Classical CLN2 disease is currently also known as late infantile ceroid lipofuscinosis (LINCL). The classical term Jansky–Bielschowsky disease has a historical value. Batten disease is the umbrella/category term and should be used to regard to all NCL and for clarity for the individual disorders refer to the associated gene

40

D

82

Several phenotypes exist within the spectrum of TPP1-deficiency-related diseases. While one (classic CLN2 disease) is far more common than the others, there is overlap in care/ treatment and patient support

41

C

82

These Guidelines will cover the whole spectrum of disorders caused by mutations in CLN2/TPP1, including those with phenotypes not typically classed as NCL

25

NA

80