In most patients with juvenile Batten disease, motor impairments are already apparent at the time of diagnosis and…
Articles by Joana Carvalho, PhD
Fycompa (perampanel) may be considered as an add-on therapy to control myoclonus (quick, involuntary muscle jerks) in…
Loss of the Tpp1 gene is associated with brain inflammation and nerve cell dysfunction, possibly due to oxidative stress — the cellular…
Patients experiencing typical symptoms of late-infantile neuronal ceroid lipofuscinoses (LINCL) should be tested for the presence of genetic defects in…
Scientists have discovered a new mutation in the CLN3 gene associated with Juvenile Batten disease. The study, “…
A team of Italian researchers suggests that CLN3 disease, also known as juvenile Batten disease, should be included…
New mutations have been found in PPT1 and TPP1, the two genes associated with neuronal ceroid lipofuscinoses…
Genetic mutations in the CLN8 gene block the transport of lysosomal enzymes to lysosomes, the cellular compartments that digest and recycle…
A genetic deletion in the CLN3 gene impairs the normal function of genes involved in the production of a type of…
Using a species of amoeba as a model organism, researchers have found chemical modifications in the CLN5 protein — whose…