YOUNG ONSET PARKINSON’S PANEL: AFFECTED INDIVIDUALS
|
Catalog ID: NDPT104
|
Panel Composition and Demographics Brief Description: This panel contains 5 micrograms of DNA from 92 unique and unrelated White individuals with young onset Parkinson’s disease (YOPD). These include 55 males and 37 females from North America. The age of PD onset ranges from 40 years to 47 years. For all YOPD panels, samples were selected based on age of onset (<56 years). This was defined as when symptom(s) of PD were first noted (including at least one of the following: resting tremor, rigidity, bradykinesis, gait disorder, postural instability). NDPT104 replaces NPDT015, and contains the same samples except: ND03677 (no longer available) and ND04215 (no longer available) are removed and are replaced by ND19185 and ND10030. ND00061 and ND08189 each appear twice on the panel as internal controls. Wells E12 and H12 are empty for addition of a laboratory control. Panel Design The concentration of each DNA sample to be plated is normalized and then this concentration is verified. The specific position on the plates has been randomized to reduce any possibility of systematic errors. Four wells remain empty for control samples. Diagnostic and Clinical Features The phenotypic details of any single subject can be viewed through the list of panel members by clicking on the individual ID number. In order for subject inclusion, complete NINDS Repository Clinical Data Elements (CDEs) were required. Furthermore, only subjects who met the UK Brain Bank Criteria idiopathic Parkinson's disease were included (Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease. A clinico-pathological study of 100 cases. JNNP 1992;55:181-184.). By those criteria, all subjects had bradykinesia, and at least one of the following: muscular rigidity, 4-6 Hz rest tremor, or postural instability (not caused by primary visual, vestibular, cerebellar, or proprioceptive dysfunction). None had exclusionary features. All had documentation of sustained, excellent response to dopamine replacement therapy. All samples and data were collected with informed consent under local IRB approved protocols. These samples are generously shared by Drs. Okun Mandel, John Hardy, David Simon, Andrew Singleton, Dennis Dickson, Zbigniew Wszolek, Matthew Farrer, Ted Dawson, Kapil Sethi, Ray Watts, Ted Rothstein, Katrina Gwinn, Roger Elble, Frederick Wooten, Melissa Hanson, and John Allman. Publications Please cite the panel number and the NINDS Repository in any publications, and kindly share those references the NINDS Repository Management Team at Coriell (NINDS@Coriell.org). Portions or all of this statement may be used in publications relevant to this panel. Other Samples, Positive Controls Samples which may be useful as controls for this panel are additionally available via the NINDS Repository catalogue. Note that positive controls for synuclein triplication and parkin mutation, as well as individuals without Parkinson's or other neurological disease are also available.
|
|
|