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Imaging Amyloid Tissues Stained with Luminescent Conjugated Oligothiophenes by Hyperspectral Confocal Microscopy and Fluorescence Lifetime Imaging
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Storage diseases: diagnostic position.

Hans H Goebel1, Harald D Müller

  • 1Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany. goebel@neuropatho.klinik.uni-mainz.de

Ultrastructural Pathology
|February 7, 2013
PubMed
Summary
This summary is machine-generated.

Storage diseases are metabolic conditions affecting multiple organs. Diagnosis of lysosomal storage diseases often utilizes electron microscopy on accessible tissues like skin or blood lymphocytes.

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Area of Science:

  • Biochemistry
  • Cell Biology
  • Pathology

Background:

  • Storage diseases are metabolic, multiorgan conditions.
  • These diseases are classified as lysosomal or nonlysosomal.
  • Lysosomal disorders necessitate electron microscopy for diagnosis.

Purpose of the Study:

  • To discuss the diagnostic approaches for storage diseases.
  • To highlight the role of electron microscopy in lysosomal storage disease diagnosis.
  • To outline a hierarchy of accessible biopsy tissues for diagnosis.

Main Methods:

  • Morphological diagnosis using electron microscopy.
  • Analysis of metabolic substrates to determine organ involvement.
  • Biopsy of accessible tissues such as blood lymphocytes, skin, conjunctiva, rectum, and skeletal muscle.

Main Results:

  • The metabolic substrate dictates cellular and organ involvement in storage diseases.
  • Extracerebral biopsies are feasible for certain conditions like neuronal ceroid-lipofuscinoses (NCL).
  • Lysosomal diseases present as vacuolar or nonvacuolar types, with NCL showing diverse ultrastructural patterns.

Conclusions:

  • Accessible tissues can be used for diagnosing lysosomal storage diseases.
  • Electron microscopy is crucial for morphological diagnosis of lysosomal disorders.
  • Drug-induced lysosomal storage and polyglucosan body diseases warrant clinical attention.