Coriell Institute for Medical Research
PARKINSON'S PANEL: WHITE FROM THE UNITED STATES
Catalog ID: NDPT083

Panel Contributors
All samples and data were collected with informed consent under local IRB approved protocols. The samples for NDPT001, and its replacement, NDPT083, are generously shared by Drs. John Hardy, Michael S. Okun, Ronald Mandel, Katrina Gwinn, Andrew Singleton, Anthony Crawley, John Werner, Ira Shoulson, Holly Shill, Zbigniew Wszolek, and Tanya Sumuni.

Panel Composition and Demographics
This panel contains 5 µg DNA from 92 unique and unrelated White individuals with idiopathic Parkinson's disease (PD). These include 47 males and 45 females from the United States. The age of PD onset ranges from 55 years to 70 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). NDPT083 replaces NDPT001 and it has all of the same samples, except: ND05019 replaces ND00732; ND01245 replaces ND01089, ND01370 replaces ND01707; ND14286 replaces ND01073; ND13412 replaces ND01737; and ND09110 replaces ND01839.

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 optimized to reduce any possible errors in sample identity during the genotyping process. Four wells remain empty for control samples. The phenotypic details of any single subject can be viewed from the 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: 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.

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. None were included who had three or more relatives with parkinsonism, nor with apparent Mendelian inheritance of PD. 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 catalog. Note that positive controls for synuclein triplication and parkin mutation as well as individuals without Parkinson's or other neurological disease are available.

Table. Family Details Individuals who reported Positive Family History
Plate location, NINDS ID

The following endorsed a family history of Parkinsonism in a first degree relative (relationship in parentheses):
B 06, ND01937 (mother, and maternal aunt)
E 03, ND01520 (father)
A 07, ND00054 (father)
H 01, ND00050 (mother)
H 07, ND00732 (father)
D 09, ND01521 (mother)
E 04, ND00671 (mother, maternal aunt)G 02, ND01245 (sister)B 05, ND01370 (father)G 11, ND09110 (mother)

The following endorsed Parkinsonism in a second degree or more distant relative only:
E 06, ND00740 (grandmother)
G 11, ND01707 (paternal uncle)
D 10, ND01761 (paternal uncle)H 07, ND05019 (cousin)

The following endorsed a family history in a non-specified relative:
A 09, ND00171
A 12, ND00183
B 07, ND00057
B 08, ND00323
C 05, ND00223
C 09, ND00198
C 12, ND00416
E 01, ND00388
F 07, ND00003
G 05, ND00041

The following stated they themselves had observed what appeared to be PD or had heard the individual had such symptoms, but the family member was not formally diagnosed.
B 12, ND00673 (mother, never diagnosed)

The following had a family member with features which may be related to PD, but this is unknown:
G 03, ND01134 (father, grandfather with essential tremor).

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