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 language | English |
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Pages (from-to) | 1803-1809 |
Number of pages | 7 |
Journal | Journal of Neurology |
Volume | 261 |
Issue number | 9 |
DOIs | |
Publication status | Published - 2014 |
Keywords
- Arylsulphatase A
- Parkinsonism
- Pathogenetic role
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
- Medicine(all)