Parents of children with a rare neurodegenerative disease say they are in disbelief they could within months lose access to the only approved treatment that slows the condition's progress. CLN2 Batten ...
CLN2 Batten disease is an incurable genetic disorder that causes rapid decline in a child's ability to walk, talk and see. Phoebe, from Coventry, said daughter Flory's doses of Brineura ...
Batten disease is a rare genetic disorder affecting 3 in 100,000 babies in the U.S., causing neurodegeneration, seizures, blindness, and early death, with an average life expectancy of 10-12 years.
Two years ago, Beatrice Cieslik was diagnosed with CLN2 type Batten disease - a rare degenerative condition which causes seizures, blindness, dementia, and difficulty with mobility and speech.
However, CLN2 mutation analysis has failed to identify some clinically diagnosed “late-infantile” NCL cases. This study was conducted to further characterize genetic heterogeneity in families ...
Also known as Batten disease, CLN2 is a progressive condition caused by the deficiency of the enzyme tripeptidyl peptidase 1. This results in the abnormal storage of proteins and lipids in neurons ...
Nine-year-old Charleigh Pollock was diagnosed with a neurological disorder known as Batten disease, or CLN2, in 2019. She developed seizures and mobility loss and began to decline rapidly ...
Ollie, 14, and Amelia Carroll, 11, are among 36 children in the UK receiving treatment for the heartbreaking neurodegenerative Batten disease, also known as CLN2. NHS England must decide before ...