Dopamine dysregulation syndrome in a patient with early onset Parkinsonism and Parkin gene mutations
β Scribed by Esther M. Sammler; Robert J. Swingler; Arlene Stuart; Miratul Muqit
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 263 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract A multiethnic series of patients with earlyβonset Parkinson's disease (EOP) was studied to assess the frequency and nature of __parkin__/PARK2 gene mutations and to investigate phenotypeβgenotype relationships. Fortyβsix EOP probands with an onset age of <45 years, and 14 affected relat
## Abstract Autosomal recessive earlyβonset Parkinsonism (AREP) has been associated with mutations in the __Parkin__, __PINK1__, __DJβ1__, and __ATP13A2__ genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and
We report on clinical (18)F-labeled 6-fluorodopa ((18)F-dopa) positron emission tomography (PET) and molecular genetic analyses of an ethnic Chinese family in which three siblings presented with early-onset Parkinson's disease. As described in some parkin patients, neither sleep benefit nor diurnal
## Mutations in the Parkin (PARK2) and the DJ1 (PARK7) gene cause early-onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quanti