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

From: Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Statement Responders Evidence level Consensus %
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