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
Arylsulphatase A activity in familial parkinsonism: a pathogenetic role? / Elena Antelmi; Giovanni Rizzo; Margherita Fabbri; Sabina Capellari; Cesa Scaglione; Paolo Martinelli. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - STAMPA. - 261:9(2014), pp. 1803-1809. [10.1007/s00415-014-7425-5]
Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
ANTELMI, ELENA;RIZZO, GIOVANNI;CAPELLARI, SABINA;SCAGLIONE, CESA LORELLA MARIA;MARTINELLI, PAOLO
2014
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 diseaseI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.