News

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…

Use of gemfibrozil shows promise in mouse model of juvenile Batten

Use of the cholesterol medication gemfibrozil — a fat-lowering therapy — reduced brain inflammation and improved motor function in a mouse model of juvenile Batten disease, a new study reports. These therapeutic benefits were mediated by the activation of peroxisome proliferator-activated receptor-alpha, known as PPAR-alpha. This receptor protein…