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search submit
ND22476
DNA
from
Whole Blood
Description:
PROGRESSIVE SUPRANUCLEAR PALSY
Affected:
Yes
Gender:
Male
Age:
54
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
External Links
Overview
Repository
NINDS Repository
Subcollection
Parkinsonism
Quantity
3 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Sample Source
DNA from Whole Blood
Race
White
Subject Type
case-spouse
Family Type
NUCLEAR FAMILIES - ONE AFFECTED
Ethnicity
Not Hispanic/Latino
Country of Origin
USA
Family Member
1
Family History
N
Relation to Proband
proband
Species
Homo
sapiens
Common Name
Human
Note
This material represents a finite resource (DNA from Whole Blood)
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
54 YR
Gender
Male
Age of Onset(If not a control)
52 YR
Age at Diagnosis(If not a control)
54 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: 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
No Data
External Links
NCBI GTR
601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1
OMIM
601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1
Omim Description
STEELE-RICHARDSON-OLSZEWSKI SYNDROME
SUPRANUCLEAR PALSY, PROGRESSIVE
Culture Protocols
Supplement
-
Pricing
Commercial and Non-U.S.:
$0.00
USD
U.S. Academic or
Non-profit:
$0.00
USD
NINDS Repository Submitter (past or current) and/or Current NINDS Grantee
$0.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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NINDS2471