Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.
Journal article published in 2011 by
Se Winder-Rhodes,
Pablo Garcia-Reitböck,
Maria Ban,
Jonathan R. Evans,
Ts Jacques,
Anu Kemppinen,
Thomas Foltynie,
Ch Williams-Gray 
,
Pf Chinnery,
Gavin Hudson,
Dj Burn,
Lm Allcock,
Sj Sawcer,
Ra Barker,
Mg Spillantini
,
Pf Chinnery,
Gavin Hudson,
Dj Burn,
Lm Allcock,
Sj Sawcer,
Ra Barker,
Mg Spillantini
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Abstract
Parkinson's disease (PD) is a common neurodegenerative disorder of unknown etiology. The characteristic α-synuclein aggregation of PD is also a feature of Sanfilippo syndrome, a storage disorder caused by α-N-acetylglucosaminidase (NAGLU) gene mutations. We explored genetic links between these disorders and studied the pathology of Sanfilippo syndrome to investigate a common pathway toward α-synuclein aggregation.