Batten disease, otherwise known as Neuronal Ceroid Lipofuscinosis, is the name given to a family
of rare genetic conditions of the nervous system. There are over 400 variants in 13 different genes
known to cause Batten disease and consequently, several different forms of the condition. The
exact symptoms, time of onset, and severity vary by the form, but most develop in childhood.
Common symptoms include seizures, vision loss, cognitive and motor decline, and dementia. As
new therapies are being developed, its become imperative to diagnose the condition as early as
possible. Three forms of Batten disease, referred to as CLN1, CLN2, and CLN10 disease, are
caused by loss-of-function variants in the genes encoding lysosomal enzymes PPT1, TPP1 and
cathepsin D, respectively. Enzymatic assays can be used to diagnose these different forms. In
these assays, patient samples are mixed with a synthetic substrate. The substrate can be cleaved
by the corresponding enzyme, releasing a fluorescent molecule which can then be detected. A
single enzymatic assay is performed for each of the three enzymes listed earlier to help provide a
rapid and reliable diagnosis. Which of the following results would suggest a diagnosis of CLN2
disease?.
Batten disease otherwise known as Neuronal Ceroid Lipofusci.pdf
1. Batten disease, otherwise known as Neuronal Ceroid Lipofuscinosis, is the name given to a family
of rare genetic conditions of the nervous system. There are over 400 variants in 13 different genes
known to cause Batten disease and consequently, several different forms of the condition. The
exact symptoms, time of onset, and severity vary by the form, but most develop in childhood.
Common symptoms include seizures, vision loss, cognitive and motor decline, and dementia. As
new therapies are being developed, its become imperative to diagnose the condition as early as
possible. Three forms of Batten disease, referred to as CLN1, CLN2, and CLN10 disease, are
caused by loss-of-function variants in the genes encoding lysosomal enzymes PPT1, TPP1 and
cathepsin D, respectively. Enzymatic assays can be used to diagnose these different forms. In
these assays, patient samples are mixed with a synthetic substrate. The substrate can be cleaved
by the corresponding enzyme, releasing a fluorescent molecule which can then be detected. A
single enzymatic assay is performed for each of the three enzymes listed earlier to help provide a
rapid and reliable diagnosis. Which of the following results would suggest a diagnosis of CLN2
disease?
