General description

Neuronal ceroid lipofuscinosis (NCL) is a group of inherited neurodegenerative lysosomal storage disorders caused by mutations in one of at least 14 identified CLN genes. These disorders are characterized by the accumulation of autofluorescent lipopigments within neuronal cells, primarily affecting the brain and retina, leading to progressive neurodegeneration.

NCL was traditionally classified into infantile, late infantile, juvenile, and adult-onset forms, but it is now divided into 13 recognized subtypes (CLN1-CLN14, excluding CLN9). The clinical presentation varies depending on the genetic subtype, but common symptoms include developmental regression, seizures, visual impairment, motor dysfunction, and behavioral abnormalities. The most frequent form, CLN3-related NCL, typically presents in childhood with progressive vision loss due to retinal degeneration, followed by cognitive decline, seizures, and movement disorders such as ataxia and parkinsonism.

Diagnosis is confirmed through genetic testing or by identifying characteristic intracellular deposits in neuronal cells using electron microscopy of tissue samples from rectal or skin biopsies.

References

1. Biswas, A., et al. "Expanding the neuroimaging phenotype of neuronal ceroid lipofuscinoses." American Journal of Neuroradiology 41.10 (2020): 1930-1936.