Presentation
Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. [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]
Entire Body System
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Falling
Morphologische und biochemische Untersuchungen über einen Fall von juveniler amaurotischer Idiotie (Neuronale Ceroid-Lipofuszinosis). Verh. Deutsch. Ges. Path. 55:427, 1971. [ Links ] 6. [scielo.br]
Workup
Other Pathologies
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Gliosis
Radiographic features Radiographic features are nonspecific and include mainly generalized brain atrophy and white matter changes probably induced by Wallerian degeneration and gliosis 2. [radiopaedia.org]
One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. [scielo.br]
Treatment
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]
Etiology
Although there were no unexpected serious adverse events that were unequivocally attributable to the AAV2 CU hCLN2 vector, there were serious adverse effects, the etiology of which could not be determined under the conditions of the experiment. [liebertpub.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]
Epidemiology
Worldwide epidemiological data do not exist, but a higher incidence of NCL has been observed in northern countries 5. [scielo.br]
Pathophysiology
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]
Prevention
In mice carrying a PPT1 mutation, NtBuHA prevented neuronal cell loss, mitigated behavioral deterioration and increased survival rates. [natureasia.com]