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ND48249 DNA from Whole Blood

Description:

AVM-RUPTURED

Affected:

Yes

Sex:

Male

Age:

8 YR (At Sampling)

  • Overview
  • Phenotypic Data
  • External Links

Overview

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Repository NINDS Repository
Subcollection Cerebrovascular Disease
Quantity 3 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Sample Source DNA from Whole Blood
Race Black/African American
Ethnicity Not Hispanic/Latino
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 8 YR
Sex Male
Age of Onset(If not a control) 5 YR
Age at Diagnosis(If not a control) 5 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: Cerebrovascular Disease
  (Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data? yes   no 
Smoking History
smoking history never   former smoker  current smoker 
years smoking  No Data
Family History
Family history of Cerebrovascular Disease present  absent   Unknown 
Family History of Aneurysm present  absent   Unknown 
Aneurysm Location of affected Family Member  No Data
Specific diagnosis
Cerebrovascular diagnosis silent cerebral infarction
transient ischemic attack
unruptured intracranial aneurysm
symptomatic ischemic stroke
symptomatic intracerebral hemorrhage
aneurysmal subarachnoid hemorrhage
vascular cognitive impairment
arteriovenous malformations (AVM)
other
Unaffected primary blood relative of proband
Cerebral Cavernous Malformation (CCM)
Hereditary Hemorrhagic Telangiectasia (HHT)
Prior Medical History
Pre-existing history of dementia Present  Absent  
Pre-hemorrhage history of ischemic stroke Present  Absent   Not Applicable 
TOAST criteria
ischemic stroke subtype based on TOAST  not applicable
AVM subtype criteria
AVM type unruptured  ruptured  not applicable  
Spetzler-Martin score  1 (PREVIOUSLY RUPTURED RIGHT TEMPORAL-OCCPITAL MEDIAL INFERIOR AVM WITH RECURRENCE OF AVM)
Size <30mm   30-60mm  >60mm 
AVM Location Eloquent   Non-eloquent 
Venous drainage  No Data
Drainage Location cortical
subcortical/deep
posterior fossa
Confirmation of diagnosis
did a neurologist confirm the cerebrovascular diagnosis yes   no 
Medical History
hypertension yes  no  
diabetes mellitus yes  no  
atrial fibrillation yes  no  
myocardial infarction yes  no  
Other risk factors yes  no  
Genetic Data of Subject
Mutation/s in subject's DNA (if present, describe) present  absent  unknown  
Medical History
Hypertension treated with medication yes  no  
Blood pressure (at time of blood draw)  No Data
Other diagnosis
Parkinson's disease yes  no  
Alzheimer's disease yes  no  
Epilepsy yes  no  
Amyotrophic lateral sclerosis yes  no  
Dementia yes  no  
Other Neurological Diagnosis(es) yes  no  
Optional data
State Examination (MMSE) score  No Data
Neurological examination  No Data
Handedness Right  Left   Ambidextrous 
Montreal Cognitive Assessment(MoCA) score  No Data

External Links

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NCBI GTR 108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
OMIM 108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
Omim Description ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
  CEREBRAL ARTERIOVENOUS MALFORMATIONS

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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