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ND01628
LCL
from
B-Lymphocyte
Description:
PARKINSON DISEASE
PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES
PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES
PD
Affected:
Yes
Gender:
Male
Age:
61
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
Publications
External Links
Culture Protocols
Overview
Repository
NINDS Repository
Subcollection
Parkinsonism
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
White
Ethnicity
Not Hispanic/Latino
Country of Origin
USA
Family History
N
Species
Homo
sapiens
Common Name
Human
Phenotypic Data
Demographic Data
Relation to Proband
No Data
Age at Sampling
61 YR
Gender
Male
Age of Onset(If not a control)
57 YR
Age at Diagnosis(If not a control)
No Data
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
present
absent
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: Additional PSP subjects (others grouped with Parkinsonism)
(Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data?
yes
no
Family History
Family history of Progressive Supranuclear Palsy
present
absent
unknown
Best Clinical Diagnosis
Progressive supranuclear palsy
present
absent
Diffuse Lewy Body disease
present
absent
Multiple system atrophy
present
absent
Gaze palsy
present
absent
Alzheimer's disease
present
absent
Corticobasal ganglionic degeneration
present
absent
Dementia
present
absent
Other
present
absent
Signs suggestive of PSP diagnosis
Vertical gaze palsy
present
absent
Slowing of vertical saccades
present
absent
Intact oculocephalic reflexes
present
absent
Bradykinesis
present
absent
Rigidity (axial>limb)
present
absent
Parkinsonism with asymmetrical onset
present
absent
Emotional incontinence
present
absent
Symptom onset not due to: visual, vestibular, cerebellar, sensory dysfunction
present
absent
Frontal lobe dysfunction (bradyphrenia, forced grasping, perseveration, utilization behavior)
present
absent
Signs suggestive of another diagnosis
Response to Levodopa
present
absent
Tremor
present
absent
Cerebellar signs
present
absent
Oculogyric crisis
present
absent
Neuroleptic treatment onset
present
absent
Hydrocephalus
present
absent
Delusions
present
absent
Early severe dementia
present
absent
Whipple's disease
present
absent
Focal sensory deficit
present
absent
Early severe autonomic involvement
present
absent
History of hypoxia/anoxia
present
absent
History of alien limb syndrome
present
absent
History of repeated strokes
present
absent
History of encephalitis
present
absent
Unilateral Babinski sign
present
absent
Brain tumor
present
absent
Prior history of repeated head injury
present
absent
Optional data
PSP Rating Scale total score
37
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
No Data
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
never
former smoker
current smoker
years smoking
30
Optional data
Mini-mental status score
30/30
Hoehn and Yahr
III
UPDRS total motor score
on
off
Notes:
40
Handedness
Right
Left
Ambidextrous
Publications
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
Li Y, Rowland C, Schrodi S, Laird W, Tacey K, Ross D, Leong D, Catanese J, Sninsky J, Grupe A
, A case-control association study of the 12 single-nucleotide polymorphisms implicated in Parkinson disease by a recent genome scan American journal of human genetics78:1090-2; author reply 1092-4 2006
PubMed ID:
16685663
External Links
dbSNP
dbSNP ID: 16585
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
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:
$0.00
USD
Academic &
Non-profit:
$0.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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