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ND39139 DNA from Whole Blood

Description:

PROGRESSIVE SUPRANUCLEAR PALSY

Affected:

Yes

Sex:

Male

Age:

51 YR (At Sampling)

  • Overview
  • Phenotypic Data
  • 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
Sample Source DNA from Whole Blood
Race Other
Ethnicity Not Hispanic/Latino
Ethnicity Persian
Country of Origin USA
Family History N
Species Homo sapiens
Common Name Human
Note This material represents a finite resource (DNA from Whole Blood)

Phenotypic Data

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Demographic Data
Relation to Proband No Data
Age at Sampling 51 YR
Sex Male
Age of Onset(If not a control) 47 YR
Age at Diagnosis(If not a control) 49 YR
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category Other
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 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 present  absent  
Fluctuations in attention or alertness present  absent  
hallucinations present  absent  
dysautonomia present  absent  
Significant cognitive impairment or dementia present  absent  
axial rigidity present   absent 
Other present  absent  
Smoking History
smoking history never  former smoker   current smoker 
years smoking  13
Optional data
Mini-mental status score  22
Hoehn and Yahr  4
UPDRS total motor score  No Data
Handedness Right   Left  Ambidextrous 
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

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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

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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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