title: Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
abstract: BACKGROUND
  An association between glucocerebrosidase, the enzyme deficient in Gaucher disease, and the synucleinopathies has been suggested both by the development of parkinsonism in Gaucher probands and carriers, as well as by the presence of mutations in the gene for glucocerebrosidase (GBA) in different series of subjects with synucleinopathies. In this study, an open access Parkinson repository was used to establish the incidence of GBA alterations in a different ethnic cohort with sporadic Parkinson disease (PD).
  
  
  METHODS
  The glucocerebrosidase gene was sequenced in samples collected from 92 Chinese Parkinson disease patients from Taiwan along with 92 clinically screened controls, matched for age and ethnicity.
  
  
  RESULTS
  The frequency of GBA mutations among the Chinese PD probands was 4.3%, in contrast to 1.1% in Chinese controls. Mutant alleles identified included two known mutations, L444P and D409H, and two novel mutations, L174P and Q497R.
  
  
  CONCLUSIONS
  These results, ascertained in subjects from Taiwan collected in a standardized and clinically rigorous open access Parkinson disease repository and screened by direct sequencing of GBA, demonstrate that GBA mutations are also encountered in Chinese subjects with sporadic PD at a higher frequency than many other known PD genes. The study demonstrates that the association of GBA mutations with the development of parkinsonian pathology is not related to ethnic origin.
authors.affiliation: Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA.
authors.forename: Shira G
authors.initials: SG
authors.lastname: Ziegler
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Eblan
authors.forename: Usha
authors.initials: U
authors.lastname: Gutti
authors.forename: Kathleen S
authors.initials: KS
authors.lastname: Hruska
authors.forename: Barbara K
authors.initials: BK
authors.lastname: Stubblefield
authors.forename: Ozlem
authors.initials: O
authors.lastname: Goker-Alpan
authors.forename: Mary E
authors.initials: ME
authors.lastname: LaMarca
authors.forename: Ellen
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D000368:Aged; D044466:Asian People; D005260:Female; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D013624:Taiwan / Q000208:ethnology
chemical_list: D005962:Glucosylceramidase