Batten disease study from Argentina shows regional data is key
Researchers find CLN7 form of disease may be more common in Latin America
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A study that found CLN7 disease, a form of Batten disease, may be more common in Latin America than in other parts of the world highlights the importance of global data, according to its authors.
Differences in the types of Batten disease that are most common across regions “underscore the need for regional data to inform diagnostic and therapeutic strategies,” the researchers said. They said their findings “emphasize the importance of incorporating Latin American cohorts into international [Batten disease] research initiatives and registries.”
The study, “Expanding the genotypic landscape of the neuronal ceroid lipofuscinoses: clinical and molecular findings from a tertiary-care center in Argentina,” was published in Seizure.Â
Batten disease, also known as neuronal ceroid lipofuscinosis, encompasses a group of rare genetic disorders that disrupt the ability of cells to get rid of molecular waste. There are more than a dozen different types of Batten disease, each caused by mutations in different genes. These disorders are generally characterized by similar symptoms such as neurological problems, vision loss, and seizures. However, specific manifestations, such as age of onset, can vary widely across types and even among people with the same disease type.
Scientific research into rare genetic disorders like Batten disease is not evenly distributed worldwide. Generally, this research tends to focus more heavily on resource-rich nations like the U.S., whereas less wealthy countries are often neglected. To date, there has been little research on how Batten disease manifests among people in Latin America.
Researchers look at kids in Argentina
Aiming to fill the research gap, a team of scientists in Argentina reported data from 19 children with various types of Batten disease who were seen at a specialty clinic in the country between 2000 and 2025.
Prior studies conducted in North America and Europe found the most common forms of Batten disease to be CLN2 disease (caused by mutations in the TPP1 gene) and CLN3 disease (caused by mutations in the CLN3 gene). In this cohort from Latin America, the most common type of Batten disease was CLN7 disease, caused by mutations in the MFSD8 gene.
CLN7 disease affected seven of the 19 kids in the Argentinian study. The next most common subtype was CLN2, which affected six kids. Even though CLN3 has been reported to be more common in other parts of the world, only one of the 19 patients in this study had this form of Batten disease.
“This distribution diverges from global data, where CLN2 and CLN3 are typically the most common [Batten] forms, particularly in Northern Europe and North America,” the researchers wrote.
Both CLN7 and CLN2 diseases are generally classified as forms of late-infantile Batten disease, meaning that symptoms develop between ages 2 and 4. In this study, all CLN2 patients fit this pattern, with initial symptoms such as seizures developing around age 2 or 3.
But among patients with CLN7 disease, there was much greater variability. Some of these patients followed the typical late-infantile pattern, with symptoms developing around toddlerhood. But some CLN7 patients also developed symptoms earlier, with delays in speech development before age 2. At the same time, other CLN7 patients did not experience any notable symptoms until later in childhood, around age 6. Typically, Batten disease with onset before age 2 is classified as infantile Batten disease, whereas onset after age 4 is classified as juvenile Batten.
“In our cohort, all patients with CLN2 disease presented with the late-infantile form,” the researchers wrote. “In contrast, patients with CLN7 disease showed greater [variability in age of onset], including infantile-, late-infantile-, and juvenile-onset forms.” Specific symptom patterns also varied more in CLN7 patients, the researchers said, consistent with previous studies indicating that this particular form of Batten disease can vary widely in its presentation.
The researchers said their study expands scientific understanding of Batten disease in Argentina, emphasizing the need for further research to better understand how the disease affects people in Latin America and other underrepresented regions worldwide.
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