Gaucher disease and the synucleinopathies: Refining the relationship

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Campbell, Tessa N ^a   Choy, Francis Y M ^b  

^a TNC Scientific Consulting   (Canada)

^b UNIVERSITY OF VICTORIA   (Canada)

Author keywords

dementia with Lewy bodies; Gaucher disease; GBA mutations; glucocerebrosidase; lysosomal storage disease; multiple system atrophy; neurodegeneration with brain iron accumulation; Parkinson's disease; protein misfolding; synucleinopathies

Indexed keywords

ALPHA SYNUCLEIN; GLUCOSYLCERAMIDASE; IRON; SNCA PROTEIN, HUMAN;

AUTONOMIC DYSFUNCTION; COGNITIVE DEFECT; DEGENERATIVE DISEASE; DEMENTIA; DEPRESSION; DISEASE ASSOCIATION; ENVIRONMENTAL EXPOSURE; FAMILY HISTORY; GAIN OF FUNCTION MUTATION; GAUCHER DISEASE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; LEWY BODY; LOSS OF FUNCTION MUTATION; MULTIFACTORIAL INHERITANCE; MUTATION RATE; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; PARKINSON DISEASE; PARKINSONISM; PSYCHOSIS; REVIEW; SHY DRAGER SYNDROME; SLEEP DISORDER; SMELLING DISORDER; SYNUCLEINOPATHY; DEMYELINATING DISEASE; GENETICS; METABOLISM; MISSENSE MUTATION;

ALPHA-SYNUCLEIN; GAUCHER DISEASE; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; MUTATION, MISSENSE;

EID: 84856344278     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-12     Document Type: Review

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