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Journal of Neurology

, Volume 261, Issue 9, pp 1803–1809 | Cite as

Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?

  • Elena Antelmi
  • Giovanni Rizzo
  • Margherita Fabbri
  • Sabina Capellari
  • Cesa Scaglione
  • Paolo MartinelliEmail author
Original Communication

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.

Keywords

Parkinsonism Arylsulphatase A Pathogenetic role 

Notes

Conflicts of interest

Authors have nothing to disclosure. Statement: as corresponding author, I can personally guarantee that I asked all the patients for their consent and they all agreed to be video-recorded.

Ethical standard

The study has been approved by the Institution Review Board.

Supplementary material

415_2014_7425_MOESM1_ESM.wmv (11.2 mb)
Supplementary material 1 (WMV 11419 kb)

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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Elena Antelmi
    • 1
  • Giovanni Rizzo
    • 1
  • Margherita Fabbri
    • 1
  • Sabina Capellari
    • 1
    • 2
  • Cesa Scaglione
    • 1
    • 2
  • Paolo Martinelli
    • 1
    Email author
  1. 1.Department of Biomedical and Neuromotor Sciences, (DIBINEM)University of BolognaBolognaItaly
  2. 2.IRCCS, Institute of Neurological SciencesBolognaItaly

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