title: Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
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.
authors.affiliation: Department of Biomedical and Neuromotor Sciences, (DIBINEM), University of Bologna, Bologna, Italy, elenaantelmi@gmail.com.
authors.forename: Elena
authors.initials: E
authors.lastname: Antelmi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Rizzo
authors.forename: Margherita
authors.initials: M
authors.lastname: Fabbri
authors.forename: Sabina
authors.initials: S
authors.lastname: Capellari
authors.forename: Cesa
authors.initials: C
authors.lastname: Scaglione
authors.forename: Paolo
authors.initials: P
authors.lastname: Martinelli
mesh_terms: D000328:Adult; D000368:Aged; D002553:Cerebroside-Sulfatase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D005190:Family; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D035781:Siblings
chemical_list: D002553:Cerebroside-Sulfatase