Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
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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.
KeywordsParkinsonism Arylsulphatase A Pathogenetic role
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.
The study has been approved by the Institution Review Board.
- 11.Lowry O, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with folin-phenol reagent. J Biol Chem 93:265–275Google Scholar
- 37.Dermentzaki G, Dimitriou E, Xilouri M et al (2013) Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells. PLoS One 8(4):60674. doi: 10.1371/journal.pone.0060674
- 42.Nuytemans L, Bademci G, Inchausti G (2013) Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. Neurology 80:982–989Google Scholar