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ND07997 DNA from Whole Blood

Description:

ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL

Affected:

At Risk

Sex:

Female

Age:

56 YR (At Sampling)

  • Overview
  • Phenotypic Data
  • Images

Overview

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Repository NINDS Repository
Subcollection Motor Neuron Disease
Quantity 3 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Sample Source DNA from Whole Blood
Race White
Subject Type discordant sib pair
Family Type NUCLEAR FAMILIES - ONE AFFECTED
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 2
Family History N
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 56 YR
Sex Female
Age of Onset(If not a control) No Data
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: Motor Neuron Disorders
  (Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data? yes  no  
Family History
ALS/other MND present   absent  unknown 
Notes: BROTHER ONLY
Parkinson's disease present  absent   unknown 
Alzheimer's disease present   absent  unknown 
Notes: MOM
Other dementia present  absent   unknown 
Other neurodegenerative disease present  absent   unknown 
Medical History
Alzheimer's disease present  absent  
Ataxia present  absent  
Autism present  absent  
Bipolar (manic-depressive) present  absent  
Brain aneurysm present  absent  
Cancer present  absent  
Dementia Alzheimer's
Dementia
absent
Depression present   absent 
Diabetes present  absent  
Dystonia present  absent  
Epilepsy present  absent  
Heart disease present  absent  
Hypertension present  absent  
Multiple sclerosis present  absent  
Muscle disease present  absent  
Parkinson's present  absent  
Schizophrenia present  absent  
Suicide/Attempt present  absent  
Stroke present  absent  
Primary Clinical Diagnosis
Primary clinical diagnosis  Unaffected primary blood relative of proband
Notes: GENETICALLY RELATED TO AFFECTED INDIVIDUAL
Secondary Neurological Diagnosis
Secondary neurological diagnoses Frontotemporal dementia
Other (specify)
Not Applicable
Site of Symptom Onset
site of symptom onset  No Data
Treatment
Current treatment Riluzole
PEG
NIPPV
Tracheotomy
Assisted Ventilation > 23 hours
Other (specify)
No Treatment
Signs Supporting Diagnosis
Upper Motor Neuron Signs-Bulbar definite  indeterminate  absent  not tested  
Upper Motor Neuron Signs-Cervical/upper limbs definite  indeterminate  absent  not tested  
Upper Motor Neuron Signs-Thoracic/chest definite  indeterminate  absent  not tested  
Upper Motor Neuron Signs-Lumbosacral/lower limbs definite  indeterminate  absent  not tested  
Lower Motor Neuron Signs-Bulbar definite  indeterminate  absent  not tested  
Lower Motor Neuron Signs-Cervical/upper limbs definite  indeterminate  absent  not tested  
Lower Motor Neuron Signs-Thoracic/chest definite  indeterminate  absent  not tested  
Lower Motor Neuron Signs-Lumbosacral/lower limbs definite  indeterminate  absent  not tested  
EMG Studies
Bulbar acute denervation  chronic denervation  negative  not examined   acute/chronic denervation 
Cervical/upper limbs acute denervation  chronic denervation  negative  not examined   acute/chronic denervation 
Thoracic/chest acute denervation  chronic denervation  negative  not examined   acute/chronic denervation 
Lumbosacral/lower limbs acute denervation  chronic denervation  negative  not examined   acute/chronic denervation 
Genetics
SOD-1 mutation  No Data
Other mutation  No Data
Atypical Features of ALS/MND
Atypical features of ALS/MND sensory
autonomic
cerebellar
cognitive
Parkinsonian
sphincter
ocular
other
Optional data
Current ALSFRS-R  No Data
FVC  No Data
smoking history never   former smoker  current smoker 
years smoking  No Data
Handedness  No Data

Images

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View pedigree 

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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