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Neuronal Ceroid Lipofuscinosis 4

ANCL


Presentation

  • 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]
  • Patient 6, however, presented an atypical progression of disease.[scielo.br]
  • Poster session presented at: The 12th Annual WORLD Symposium; February – March 2016; San Diego, CA.[cln2connection.com]
  • 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]

Treatment

  • Research Grants & Projects Periventricular leukomalacia: neuroimaging, neuropathology, and clinical features Neuronal ceroid lipofuscinosis: molecular diagnosis and pathogenesis Ataxia telangiectasia: pathogenesis of neurodegeneration Chemical chaperon treatment[researchmap.jp]
  • 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]
Sex distribution
Age distribution

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]

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