Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?

Elena Antelmi, Giovanni Rizzo, Margherita Fabbri, Sabina Capellari, Cesa Scaglione, Paolo Martinelli

Research output: Contribution to journalArticlepeer-review

Abstract

Cellular mechanism leading to Parkinson Disease (PD) is still unknown, but impairment of lysosomal degradation of aberrant proteins seems to play a crucial role. The most known lysosomal disease associated with PD is Gaucher Disease. However, actually a number of different lysosomal disorders have been linked with PD. We report three families with Arylsulphatase A partial deficit in which we can find a high recurrence of parkinsonism among the siblings. The pedigree members show as well some atypical signs and symptoms among the PD spectrum features. Arylsulphatase A plays a crucial role in protein degradation. Even if a possibly casual association cannot be excluded, it can be speculated that Arylsulphatase A partial deficit can act as a cofactor for neurodegeneration in subjects with other genetic or environmental predispositions to PD or to other neurodegenerative disease.

Original languageEnglish
Pages (from-to)1803-1809
Number of pages7
JournalJournal of Neurology
Volume261
Issue number9
DOIs
Publication statusPublished - 2014

Keywords

  • Arylsulphatase A
  • Parkinsonism
  • Pathogenetic role

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

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