Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease

Molecular Genetics and Metabolism

Volumn 103, Issue 4, 2011, Pages 410-412

  Parkkinen, Laura ^a,d   Neumann, Juliane ^a,c   O'Sullivan, Sean S ^b   Holton, Janice L ^a,b   Revesz, Tamas ^a   Hardy, John ^b   Lees, Andrew J ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

amyloid; synuclein; Glucocerebrosidase; Lewy body; Parkinson's disease; Tau

Indexed keywords

ALPHA SYNUCLEIN; GLUCOSYLCERAMIDASE;

ARTICLE; BRAIN CORTEX; BRAIN REGION; CLINICAL ARTICLE; DEATH; DEMENTIA; DISEASE ASSOCIATION; DISEASE DURATION; FAMILIAL DISEASE; FEMALE; GENDER; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IDIOPATHIC DISEASE; LEWY BODY; MALE; MUTATIONAL ANALYSIS; ONSET AGE; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN AGGREGATION; SHY DRAGER SYNDROME;

ADULT; AGED; GLUCOSYLCERAMIDASE; HETEROZYGOTE; HUMANS; LEWY BODIES; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE;

EID: 80955178984     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.04.015     Document Type: Article

References (8)

1. Tayebi N., Walker J., Stubblefield B., et al. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol. Genet. Metab. 2003, 79:104-109.
2. Wong K., Sidransky E., Verma A., et al. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol. Genet. Metab. 2004, 82:192-207.
3. Clark L.N., Kartsaklis L.A., Wolf Gilbert R., et al. Association of glucocerebrosidase mutations with dementia with Lewy bodies. Arch. Neurol. 2009, 66:578-583.
4. Neumann J., Bras J., Deas E., et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009, 13:1783-1794.
5. Compta Y., Parkkinen L., O'Sullivan S.S., et al. Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important? Brain 2011, 134:1493-1505.
6. Manning-Boǧ A.B., Schüle B., Langston J.W. Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. Neurotoxicology 2009, 30:1127-1132.
7. Cullen V., Sardi S.P., Ng J., et al. Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Ann. Neurol. 2011, Epub. 10.1002/ana.22400.
8. Yu W.H., Dorado B., Figueroa H.Y., et al. Metabolic activity determines efficacy of macroautophagic clearance of pathological oligomeric alpha-synuclein. Am. J. Pathol. 2009, 175:736-747.