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COMMENTS AND OPINIONS
The Need for Appropriate Genotyping Strategies for Glucocerebrosidase Mutations in Cohorts With Parkinson Disease
Usha Gutti, MS;
Hon-Chung Fung, MD;
Kathleen S. Hruska, PhD;
Mary E. LaMarca, BS;
Chiung-Mei Chen, MD, PhD;
Yih-Ru Wu, MD;
Ellen Sidransky, MD
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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The article by Tan et al1 reporting mutations in the glucocerebrosidase gene (GBA) in Chinese patients with Parkinson disease (PD) is the third recent article in series of patients of Chinese ancestry.1-3 These studies are important because they support the previously described association of GBA mutations and parkinsonism in white and Ashkenazi Jewish PD cohorts4-5 in a population that is clearly of non–Ashkenazi Jewish ancestry.
Tan and colleagues chose to screen for only 2 GBA mutations, L444P and N370S. While both of these mutations are relatively common in white and Ashkenazi Jewish populations, the N370S mutation has not been reported in Asian patients with Gaucher disease.6 Thus, the frequency of GBA mutations reported in this article, 2.4%, is likely to be a vast underestimate.
. . . [Full Text of this Article] AUTHOR INFORMATION
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RELATED LETTERS
Glucocerebrosidase Mutations and Risk of Parkinson Disease in Chinese Patients
Eng-King Tan, Justina Tong, Stephanie Fook-Chong, Yuen Yih, Meng-Cheong Wong, Ratnagopal Pavanni, and Yi Zhao
Arch Neurol. 2007;64(7):1056-1058.
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The Need for Appropriate Genotyping Strategies for Glucocerebrosidase Mutations in Cohorts With Parkinson Disease—Reply
Eng-King Tan
Arch Neurol. 2008;65(6):851.
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RELATED ARTICLE
Glucocerebrosidase Mutations and Risk of Parkinson Disease in Chinese Patients
Eng-King Tan, Justina Tong, Stephanie Fook-Chong, Yuen Yih, Meng-Cheong Wong, Ratnagopal Pavanni, and Yi Zhao
Arch Neurol. 2007;64(7):1056-1058.
EXTRACT
| FULL TEXT
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