Panel Composition and Demographics
Brief Description: This panel contains 5 micrograms of DNA from 90 unique and unrelated White individuals with young onset Parkinson's disease (YOPD). These include 51 males and 39 females from North America. The age of PD onset ranges from 7 years to 40 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). NDPT087 replaces NPDT014 and it has all of the same samples, except: ND00887 was removed because it is from the same subject as ND02272 (present on the panel), ND00072 was removed because it was discovered to have a known mutation in LRRK2 (IVS20+4DELGT), and ND09440 replaces ND04741. Panel Design
The concentration of each DNA sample to be plated is normalized to 150 ng/ul 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 from submitters, and two samples are present in two wells each (ND00010, A11 and E12; ND00132, F09 and G12) as internal controls.
Diagnostic and Clinical Features
Additionally, 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. John Hardy, Andrew Singleton, Okun Mandel, Melissa Hanson, David Simon, Ray Watts, Kapil Sethi, John Werner, Dennis Dickson, Zbigniew Wszolek, and Matthew Farrer.
Publications
Please cite the panel number and the NINDS Repository in any publications, and kindly share those references with 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.