Panel Composition and Demographics
Brief Description: This panel contains 5 micrograms of DNA from 92 unique and unrelated White individuals from idiopathic Parkinson's disease (PD). These include 59 males and 33 females from the United States. The age of PD onset ranges from 55 to 81 years. This was defined as when symptom(s) of PD were first noted (including at least one: resting tremor, rigidity, bradykinesis, gait disorder, postural instability). NDPT102 replaces NDPT005, and it has all of the same samples, except ND01786 replaces ND00264, which was found to have a known mutation that causes PD (LRRK G2019S). Panel Design
The concentration of each DNA sample to be plated is normalized to150 ng/ul and then this concentration is verified. The specific position on the plates has been optimized to reduce any possible errors in sample identity during the genotyping process. Four wells remain empty for control samples.
Diagnostic and Clinical Features
The phenotypic details of any single subject can be viewed from the panel members by clicking on the individual ID number. 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: 1) muscular rigidity; 2) 4-6 Hz resting tremor; 3) postural instability (not caused by primary visual, vestibular, cerebellar, or proprioceptive dysfunction). None had exclusionary features. All had documentation of sustained, excellent response to anti-parkinsonian therapy.
All samples and data were collected with informed consent under local IRB approved protocols. These samples are generously shared by the clinical teams of Drs. John Hardy, Andrew Singleton, Michael Okun, Ronald Mandel, Dennis Dickson, Zbigniew Wszolek, Matthew Farrer, David Simon, Rodger Elble, Kapil Sethi, and David Coffey.
Family history
All subjects were queried regarding family history of parkinsonism, dementia, tremor, gait disorders, and other neurological dycfunction. Subjects both with and without a reported family history of Parkinson's disease were included on this panel. Subjects with apparent Mendelian inheritance of a parkinsonian disorder were excluded. Additional family history data are available by viewing the excel file containing all the clinical data.
Publications
Please cite the panel number and the NINDS Repository in any publications, and 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 available.