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ND01413 DNA from LCL

Description:

PARKINSON DISEASE
PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES
PARKINSON'S PANEL: CAUCASIAN FROM THE UNITED STATES
PD

Affected:

Yes

Sex:

Male

Age:

76 YR (At Sampling)

  • Overview
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NINDS Repository
Subcollection Parkinsonism
Quantity 3 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family History N
Species Homo sapiens
Common Name Human

Phenotypic Data

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Demographic Data
Relation to Proband No Data
Age at Sampling 76 YR
Sex Male
Age of Onset(If not a control) 73 YR
Age at Diagnosis(If not a control) 73 YR
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category White
Country USA
Diagnosed By No Data
 
Data Elements
Clinical Element Type: Parkinsonism
  (Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data? yes  no  
Family History
Family history of parkinsonism present  absent   unknown (subject adopted) 
Specific diagnosis
Parkinsonism clinical diagnosis Parkinson's disease
Progressive Supranuclear Palsy
Diffuse Lewy Body Disease
Multiple System Atrophy
Others
Unaffected primary blood relative of proband
Genetic Data of Subject
Mutation/s in subject's DNA (if present, describe) present  absent  unknown  
Signs suggestive of PD diagnosis
Asymmetric onset  No Data
Bradykinesis present  absent  
Activation tremor  No Data
Resting Tremor present   absent 
Postural Instability present  absent  
Rigidity present   absent 
Gait difficulties present  absent  
Response to Anti-Parkinsonism Therapy tried and responsive   inadequate dose  not tried/not given  tested and unresponsive 
Signs suggestive of another diagnosis
history of strokes or stepwise deterioration present  absent  
history of head injury with loss of consciousness present  absent  
history of encephalitis present  absent  
Oculogyric crisis present  absent  
neuroleptic treatment at time of symptom onset present  absent  
sustained remission present  absent  
gaze palsy present  absent  
Cerebellar signs (other than activation tremor) present  absent  
Fluctuations  No Data
hallucinations  No Data
dysautonomia  No Data
Memory loss  No Data
axial rigidity  No Data
Other present  absent  
Smoking History
smoking history  No Data
years smoking  No Data
Optional data
Mini-mental status score  No Data
Hoehn and Yahr  No Data
UPDRS total motor score  No Data
Handedness  No Data
Clinical Element Type: Parkinsonism
  (Longitudinal, Series #2)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data? yes   no 
Family History
Family history of parkinsonism present  absent   unknown (subject adopted) 
Specific diagnosis
Parkinsonism clinical diagnosis Parkinson's disease
Progressive Supranuclear Palsy
Diffuse Lewy Body Disease
Multiple System Atrophy
Others
Unaffected primary blood relative of proband
Genetic Data of Subject
Mutation/s in subject's DNA (if present, describe) present  absent  unknown  
Signs suggestive of PD diagnosis
Asymmetric onset present   absent 
Bradykinesis present  absent  
Activation tremor present  absent  
Resting Tremor present   absent 
Postural Instability present  absent  
Rigidity present   absent 
Gait difficulties present  absent  
Response to Anti-Parkinsonism Therapy tried and responsive   inadequate dose  not tried/not given  tested and unresponsive 
Signs suggestive of another diagnosis
history of strokes or stepwise deterioration present  absent  
history of head injury with loss of consciousness present  absent  
history of encephalitis present  absent  
Oculogyric crisis present  absent  
neuroleptic treatment at time of symptom onset present  absent  
sustained remission present  absent  
gaze palsy present  absent  
Cerebellar signs (other than activation tremor) present  absent  
Fluctuations present  absent  
hallucinations present  absent  
dysautonomia present  absent  
Memory loss present  absent  
axial rigidity present   absent 
Other present  absent  
Smoking History
smoking history  No Data
years smoking  No Data
Optional data
Mini-mental status score  No Data
Hoehn and Yahr  No Data
UPDRS total motor score  No Data
Handedness  No Data

Publications

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Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Züchner S, Konidari I, Wang G, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER., Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease Annals of Human Genetics74(2):97-109 2010
PubMed ID: 20070850
 
Fung HC, Scholz S, Matarin M, Simón-Sánchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodríguez RL, Peckham E, De Vrieze FW, Gwinn-Hardy K, Hardy JA, Singleton A, Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data Lancet neurology5:911-6 2006
PubMed ID: 17052657

External Links

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NCBI GTR 168600 PARKINSON DISEASE, LATE-ONSET; PD
OMIM 168600 PARKINSON DISEASE, LATE-ONSET; PD
Omim Description PARKINSON DISEASE 1
  PARKINSON DISEASE; PD
  PARKINSONISM
dbGaP Link phs000089

Culture Protocols

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Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
Commercial and Non-U.S.:
$0.00USD
U.S. Academic or
Non-profit:
$0.00USD
NINDS Repository Submitter (past or current) and/or Current NINDS Grantee
$0.00USD
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