An exploration of the diagnostic journey of children with Neuronal Ceroid Lipofuscinosis (NCL)

A retrospective examination of the diagnostic journey of Australian and New Zealand children with Neuronal Ceroid Lipofuscinosis (NCL) or Batten disease. Neuronal Ceroid Lipofuscinosis (NCL) or Batten disease, is a group of predominantly recessively-inherited neurodegenerative diseases that mostly affect children. It is the most common genetic cause of dementia in children, yet a rare cause of dementia in adults. Although NCL remains life-limiting, clinical trials are in development for specific disease types. NCL has a low Australian and New Zealand incidence, but a devastating impact on affected children and their families. Currently, neither country participates in an international NCL patient registry that leaves these families isolated from potential research and therapeutic agents.