The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

Movement Disorders

Volumn 28, Issue 2, 2013, Pages 232-236

  Duran, Raquel ^a   Mencacci, Niccolo E ^a,b   Angeli, Aikaterini V ^c   Shoai, Maryam ^a   Deas, Emma ^a   Houlden, Henry ^a   Mehta, Atul ^e   Hughes, Derralynn ^e   Cox, Timothy M ^f   Deegan, Patrick ^f   Schapira, Anthony H ^d   Lees, Andrew J ^a   Limousin, Patricia ^c   Jarman, Paul R ^c   Bhatia, Kailash P ^c   Wood, Nicholas W ^a   Hardy, John ^a   Foltynie, Tom ^c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ROYAL FREE HOSPITAL   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

E326K; Early onset; Gaucher's disease; GBA; Parkinson's disease

Indexed keywords

GLUCOSYLCERAMIDASE;

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DISEASE PREDISPOSITION; FEMALE; GAUCHER DISEASE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; DATABASES, GENETIC; DNA; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GAUCHER DISEASE; GENE FREQUENCY; GLUCOSYLCERAMIDASE; GREAT BRITAIN; HUMANS; LEUKOCYTES; LEWY BODY DISEASE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OPEN READING FRAMES; PARKINSON DISEASE; PROTEIN-SERINE-THREONINE KINASES; SEQUENCE ANALYSIS, DNA; UBIQUITIN-PROTEIN LIGASES; YOUNG ADULT;

EID: 84874210102     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25248     Document Type: Article

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