Ashraf Malhas, PhD,  —

A new mouse model of late infantile Batten disease may help to efficiently investigate personalized  therapies, a study suggests. The research, “A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies,” was published in the journal Plos One. Animal models are used often to…

In children with late infantile neuronal ceroid lipofuscinosis 5 (CLN5), cognitive difficulties are early clinical markers of this condition, and severe mutations are associated with a more rapid decline of neurological function, a study has found. The study, “Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5,”…

A deficiency of the progranulin protein leads to abnormalities in lysosomal function and may explain some of the molecular processes involved in Batten disease and other neurodegenerative disorders, researchers say. Their study, “Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency,” was published in…

Disruption of cilia, hair-like structures extending from the surface of cells, may play a role in Batten disease pathology, a mouse study suggests. The study, “Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease,” was published in the…

Neural stem cells derived from people with Batten disease can be used as a “disease model” to evaluate new treatment options for patients, according to researchers. Infantile neuronal ceroid lipofucinosis (INCL or CLN1) and late infantile NCL (LINCL or CLN2), all types of neuronal ceroid lipofuscinoses (NCLs, or Batten…