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The neuronal ceroid-lipofuscinoses: from past to present
1Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland. matti.j.haltia@helsinki.fi
Biochimica Et Biophysica Acta
|August 16, 2006
Summary
Neuronal ceroid-lipofuscinoses (NCLs) are inherited brain disorders causing vision loss and neurodegeneration. Recent genetic discoveries are reshaping our understanding of NCL classification and disease mechanisms.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Neuronal ceroid-lipofuscinoses (NCLs) are inherited lysosomal storage diseases and the most common cause of childhood progressive encephalopathies.
- Clinical manifestations include vision loss, neurodegeneration, seizures, and premature death in children, with dementia in adult forms.
Observation:
- Common pathomorphological features across all NCL forms include autofluorescent, lipid-solvent-resistant granule accumulation in nerve cells.
- Progressive and selective neuronal degeneration and loss are characteristic hallmarks of NCL.
Findings:
- NCL storage cytosomes were identified to consist of hydrophobic proteins, specifically mitochondrial ATP synthase subunit c or sphingolipid activator proteins A and D.
- Since 1995, mutations in at least seven genes have been linked to various human and animal NCL forms.
Implications:
- Recent biochemical and molecular genetic findings are revolutionizing the classification and understanding of NCL pathogenesis.
- This review highlights the historical evolution of NCL concepts and the impact of new discoveries on these devastating brain disorders.
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