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- Title
Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo ATP1A3 c.2267G>A (p.R756H) Genetic Mutation.
- Authors
Tan, Ai Huey; Ozelius, Laurie J.; Brashear, Allison; Lang, Anthony E.; Ahmad‐Annuar, Azlina; Tan, Chong Tin; Lim, Shen‐Yang
- Abstract
The article presents a case study of a patient from pure Southern Chinese ancestry who is affected with rapid-onset dystonia Parkinsonism (RDP). It discusses the examinations done to the patient and to her parents which is confirmed to be neurologically intact. It notes that the patient is the first case of RD to be reported of pure Chinese ethnicity. The results reveal the need to consider a diagnosis of RDP even without a family history of similar illness.
- Subjects
HEALTH of Chinese people; ETIOLOGY of diseases
- Publication
Movement Disorders Clinical Practice, 2015, Vol 2, Issue 1, p74
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.12122