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ND20723 DNA from Whole Blood

Description:

MULTIPLE SYSTEM ATROPHY

Affected:

Yes

Sex:

Female

Age:

53 YR (At Sampling)

  • Overview
  • Phenotypic Data

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 Black/African American
Subject Type concordant sib pair
Family Type NUCLEAR FAMILIES - MORE THAN ONE AFFECTED
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 2
Family History Y
Relation to Proband sister
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 sister
Age at Sampling 53 YR
Sex Female
Age of Onset(If not a control) 50 YR
Age at Diagnosis(If not a control) 50 YR
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category Black/African American
Country USA
Diagnosed By No Data
 
Data Elements
Clinical Element Type: Multiple System Atrophy
  (Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data? yes  no  
Family History
Family history of Multiple System Atrophy present   absent 
Notes: SISTER
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 (specify) present  absent  
Signs suggestive of MSA diagnosis
Orthostatic hypotension present  absent  
Urinary incontinence present   absent 
Incomplete bladder emptying present  absent  
Bradykinesia present  absent  
Rigidity present  absent  
Postural Instability present  absent  
Tremor present  absent  
Gait ataxia present   absent 
Ataxic dysarthria present  absent  
Limb ataxia present  absent  
Sustained gaze-evoked nystagmus present  absent  
Extensor plantar responses with hyperreflexia present  absent  
Features Suggestive of Another Diagnosis
Responsive to Levodopa 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  
History of hypoxia/anoxia present  absent  
History of alien limb syndrome present  absent  
History of repeated strokes present  absent  
History of encephalitis present  absent  
Brain tumor present  absent  
Prior history of repeated head injury present  absent  
Optional data
MSA Rating Scale Total Score  No Data
Clinical Element Type: Parkinsonism
  (Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data?  No Data
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 
Notes: GAIT ATAXIA
Smoking History
smoking history never   former smoker  current smoker 
years smoking  No Data
Optional data
Mini-mental status score  30
Hoehn and Yahr  No Data
UPDRS total motor score  No Data
Handedness Right   Left  Ambidextrous 

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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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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