Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.
Identifieur interne : 003472 ( Ncbi/Curation ); précédent : 003471; suivant : 003473Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.
Auteurs : Sophie E. Winder-Rhodes [Royaume-Uni] ; Pablo Garcia-Reitböck ; Maria Ban ; Jonathan R. Evans ; Thomas S. Jacques ; Anu Kemppinen ; Thomas Foltynie ; Caroline H. Williams-Gray ; Patrick F. Chinnery ; Gavin Hudson ; David J. Burn ; Liesl M. Allcock ; Stephen J. Sawcer ; Roger A. Barker ; Maria Grazia SpillantiniSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Acetylglucosaminidase (genetics), Aged, Cohort Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Male, Middle Aged, Mucopolysaccharidosis III (genetics), Mucopolysaccharidosis III (pathology), Parkinson Disease (genetics), Parkinson Disease (pathology), Polymorphism, Single Nucleotide (genetics), alpha-Synuclein (metabolism).
- MESH :
- chemical , genetics : Acetylglucosaminidase.
- genetics : Mucopolysaccharidosis III, Parkinson Disease, Polymorphism, Single Nucleotide.
- chemical , metabolism : alpha-Synuclein.
- pathology : Mucopolysaccharidosis III, Parkinson Disease.
- Aged, Cohort Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Male, Middle Aged.
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.
DOI: 10.1002/mds.24029
PubMed: 22102531
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pubmed:22102531Le document en format XML
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<author><name sortKey="Winder Rhodes, Sophie E" sort="Winder Rhodes, Sophie E" uniqKey="Winder Rhodes S" first="Sophie E" last="Winder-Rhodes">Sophie E. Winder-Rhodes</name>
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<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Genotype</term>
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<term>Male</term>
<term>Middle Aged</term>
<term>Mucopolysaccharidosis III (genetics)</term>
<term>Mucopolysaccharidosis III (pathology)</term>
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<term>Parkinson Disease (pathology)</term>
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<term>Parkinson Disease</term>
<term>Polymorphism, Single Nucleotide</term>
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<front><div type="abstract" xml:lang="en">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.</div>
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