Diagnostico de las enfermedades neurometabolicas y neurodegenerativas mediante biopsia cutanea

Translated title of the contribution: Diagnosis of neurometabolic and neurodegenerative diseases by cutaneous biopsy

M. A Idoate Gastearena, Francisco Vega

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Cutaneous biopsy is of great use in the diagnosis of neurodegenerative diseases, especially neurometabolic and inborn errors of metabolism. The sweat glands, especially the eccrine ones, and certain cellular elements in the adventitial dermis like the Schwann cells, axons, endothelium and fibroblasts, are altered in inborn errors of metabolism and in certain neurodegenerative diseases. The morphology and placement of these deposits, as for example axonal spheroids, Lafora bodies, homogeneous cytoplasmic bodies and prismatic bodies, permit to diagnosis the disease. Differential diagnosis must be made with simulating storage disorders. The study of skin biopsy must be complete and rigorous and follow a system of work, that includes electron microscopy, enzymatic determination and, occasionally, molecular biology. Valuable information about neurodegenerative diseases as muscular dystrophies, axonal neuropathy, Alzheimer disease and others can be carried out by skin biopsy. It can be foreseen that in the future indications of skin biopsy will be extended to other neurodegenerative diseases.

Original languageSpanish
JournalRevista de Neurologia
Volume25
Issue numberSUPPL. 3
StatePublished - Dec 9 1997
Externally publishedYes

Fingerprint

Neurodegenerative Diseases
Biopsy
Inborn Errors Metabolism
Skin
Adventitia
Sweat Glands
Muscular Dystrophies
Schwann Cells
Dermis
Endothelium
Axons
Molecular Biology
Electron Microscopy
Alzheimer Disease
Differential Diagnosis
Fibroblasts

Keywords

  • Axons
  • Differential diagnosis
  • Endothelium
  • Fibroblasts
  • Inborn errors of metabolism
  • Muscular dystrophies
  • Neurodegenerative diseases
  • Schwann cells
  • Skin biopsy
  • Sweat glands

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Diagnostico de las enfermedades neurometabolicas y neurodegenerativas mediante biopsia cutanea. / Gastearena, M. A Idoate; Vega, Francisco.

In: Revista de Neurologia, Vol. 25, No. SUPPL. 3, 09.12.1997.

Research output: Contribution to journalArticle

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