Epilepsy was present in 93.3% of patients, of whom 86.6% presented with neurodevelopmental involution. Fundus findings ranged from normal to pigmentary/atrophic abnormalities. [scielo.br]

Clinical presentation is heterogeneous as is onset, which renders the diagnosis hard to make. [radiopaedia.org]

Poster session presented at: The 12th Annual WORLD Symposium; February – March 2016; San Diego, CA. [cln2connection.com]

Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. [rarediseases.info.nih.gov]

Although there were no unexpected serious adverse events that were unequivocally attributable to the AAV2CU hCLN2 vector, there were serious adverse effects, the etiology of which could not be determined under the conditions of the experiment. [liebertpub.com]

(See Etiology.) [1, 2, 3] Classification The neuronal ceroid lipofuscinoses (NCLs) originally were defined by their age of onset and clinical symptoms. [emedicine.medscape.com]

In fact, the juvenile form of NCL is the most prevalent one throughout the world; except for Finland, where the CLN1 (the etiologic locus of INCL) has a comparative higher incidence 3,9,15. [scielo.br]

Worldwide epidemiological data do not exist, but a higher incidence of NCL has been observed in northern countries 5. [scielo.br]

Epidemiology Occurrence in the United States Estimates suggest that approximately 25,000 families in the United States are affected with a form of NCL. [emedicine.medscape.com]

The epidemiology of progressive intellectual and neurological deterioration in childhood. Arch Dis Child. 2010;95:361–4. [ncbi.nlm.nih.gov]

Pathophysiologically, NCLs have been attributed to lysosomal lipofuscin ceroid deposits 1 and are caused by enzymatic dysfunction 2, 3 consequent to autosomal recessive genetic mutations. To date, 14 genes have been linked to NCL. [scielo.br]

In mice carrying a PPT1 mutation, NtBuHA prevented neuronal cell loss, mitigated behavioral deterioration and increased survival rates. [natureasia.com]