Related rhesus macaques show NCL-like lysosomal storage disease

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A new Veterinary Pathology report describes a naturally occurring lysosomal storage disease consistent with neuronal ceroid lipofuscinosis, or NCL, in five related captive rhesus macaques at the California National Primate Research Center. According to the article abstract, the affected macaques showed progressive cognitive and motor decline plus an atypical musculoskeletal phenotype, including coarse facial features. Histopathology found neuronal cytoplasmic vacuolation, especially in the cerebellum and brainstem, and storage material with classic NCL-like features, including autofluorescence and positive staining with Sudan black and luxol fast blue. The finding appears notable because NCL is best known as an inherited lysosomal storage disorder in people and has also been described in other animal species, but reports in rhesus macaques are uncommon. (cnprc.ucdavis.edu)

Why it matters: For veterinary professionals, especially those in laboratory animal medicine, pathology, and neurology, this case series broadens the differential diagnosis for progressive neurologic disease in nonhuman primates. NCLs are a group of inherited lysosomal storage disorders marked by accumulation of autofluorescent storage material within lysosomes and progressive neurodegeneration, and naturally occurring animal models have been important to understanding disease biology and therapy development. A related cluster in a managed colony also raises practical questions around pedigree review, colony surveillance, genetic workup, and breeding management, particularly if a heritable variant is eventually identified. (pubmed.ncbi.nlm.nih.gov)

What to watch: Watch for any follow-up genetic characterization of the affected family line, which would determine whether this cluster becomes a more formal nonhuman primate model for NCL research. (frontiersin.org)