Spinal involvement in mucopolysaccharidoses: a review

Antonio Leone, Donato Rigante, Daniele Zaccaria Amato, Roberto Casale, Luigi Pedone, Nicola Magarelli, Cesare Colosimo

Risultato della ricerca: Contributo in rivistaArticolo in rivista

14 Citazioni (Scopus)


Mucopolysaccharidoses (MPS) represent a group of inheritable lysosomal storage diseases caused by mutations in the genes coding for enzymes involved in catabolism of different glycosaminoglycans (GAGs). They are clinically heterogeneous multisystemic diseases, often involving the spine. Bony abnormalities of the spine included in the so-called dysostosis multiplex and GAG deposits in the dura mater and supporting ligaments can result in spinal cord compression, which can lead to compressive myelopathy. Spinal involvement is a major cause of morbidity and mortality in some MPS (e.g., MPS IVA, VI, and I), and early radiological diagnosis is critical in preventing or arresting neurological deterioration and loss of function.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
Stato di pubblicazionePubblicato - 2014


  • Spinal
  • mucopolysaccharidoses


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