Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations.
Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the <i>CLN3</i> gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death.
The aim of the present study is to substantiate the assertion that paroxysmal non-epileptic attacks resembling PSH also occur in patients with Juvenile Neuronal Ceroid Lipofuscinosis (JNCL, Batten disease), which is the most common neurodegenerative disease in children.
Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is a hereditary progressive neurodegenerative disease well documented among Caucasians, but such clinical data and genetic characterization is lacking among Asian populations.
We sought to test a novel, hybrid, single- and multi-site clinical trial design in the context of a trial for Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 disease), a very rare pediatric neurodegenerative disorder.