News

Changes in brain metabolites may be biomarkers for CLN3 disease

Changes in the levels of certain metabolites in the brain among people with juvenile Batten disease, also called CLN3 disease, are significantly associated with multiple measures of disease severity, a study showed. Age accounted for many of these metabolite changes. Still, the levels of some brain metabolites — the…

New MFSD8 mutation identified in girl with CLN7 disease

A new mutation in the MFSD8 gene was identified as the cause of CLN7 disease, a form of late-infantile Batten disease, in a young Italian girl with developmental regression and a smaller-than-normal head, a case report shows. “Our case is discussed to highlight the pivotal role of clinical genetics, and of a…