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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…
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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…
Columnist Laura King Edwards shares a lesson with readers about how to persevere when life presents us with difficult obstacles.
Becoming educated and informed about Batten disease is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of our columnists’ words of wisdom to help you along on your journey.
There is no cure for Batten disease yet, but there are treatments that can help manage the disease. Learn more about the approved and experimental therapies here.
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