Diagnostic Value of Electron Microscopy in a Case of Juvenile Neuronal Ceroid Lipofuscinosis

@article{Englund2001DiagnosticVO,
  title={Diagnostic Value of Electron Microscopy in a Case of Juvenile Neuronal Ceroid Lipofuscinosis},
  author={Birgitta Englund},
  journal={Ultrastructural Pathology},
  year={2001},
  volume={25},
  pages={285 - 288}
}
  • B. Englund
  • Published 1 January 2001
  • Biology, Medicine
  • Ultrastructural Pathology
Neuronal ceroid lipofuscinoses (NCLs) represent a large group of inherited neurodegenerative disorders characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The authors present a case of juvenile neuronal ceroid lipofuscinosis in a 7-year-old boy. Ultrastructural examination of a skin biopsy disclosed deposits of curvilinear profiles and fingerprint-like structures in epithelial cells of sweat glands, endothelial cells, peripheral nerve endings, and… Expand
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References

SHOWING 1-10 OF 11 REFERENCES
The Neuronal Ceroid‐Lipofuscinoses. Recent Advances
TLDR
Advances in both genetics and biochemistry have led to the identification of the genes for the three main subtypes of childhood NCL and their corresponding protein products and to mapping of two additional genes for two variant forms. Expand
Neuronal ceroid-lipofuscinoses in childhood
TLDR
Clinical, neurophysiological and neuroimaging findings in these four NCL forms are reviewed including also management and diagnostic aspects. Expand
Batten Disease: Four Genes and Still Counting
  • S. Mole
  • Biology, Medicine
  • Neurobiology of Disease
  • 1998
TLDR
Light is shed on the molecular basis of the neuronal ceroid lipofuscinoses and suggests that the primary defect in the NCLs lies in lysosomal proteolysis, the first example of this type of disease. Expand
Neuronal ceroid-lipofuscinoses in childhood.
  • J. Rapola
  • Medicine
  • Perspectives in pediatric pathology
  • 1993
Battens disease: past, present and future
  • Am J Med Genet
  • 1988
Account of a singular illness among four siblings in the vicinity of RÎ ros
  • Trans Eyr Christiania
  • 1982
Uber familiÌ re amaurotische Idiote
  • Neurol Zbl
  • 1905
Uber familiÌ re amaurotische Idiotie und verwandtl Krankenheitsbilder
  • Montasschr Psychiat Neurol
  • 1905
familiÌ re amaurotische Idiote
  • Neurol Zbl
  • 1905
familiÌ re amaurotische Idiotie und verwandtl Krankenheitsbilder
  • Montasschr Psychiat Neurol
  • 1905
...
1
2
...