Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?

J Neurol. 2014 Sep;261(9):1803-9. doi: 10.1007/s00415-014-7425-5. Epub 2014 Jul 3.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Cerebroside-Sulfatase / deficiency
  • Cerebroside-Sulfatase / genetics*
  • Cerebroside-Sulfatase / metabolism
  • Family
  • Female
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Parkinsonian Disorders / enzymology*
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / pathology
  • Pedigree
  • Siblings*

Substances

  • Cerebroside-Sulfatase