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ND29803
DNA
from
Whole Blood
Description:
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
Affected:
Yes
Gender:
Female
Age:
16
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
External Links
Repository
NINDS Repository
Subcollection
Motor Neuron Disease
Quantity
3 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Race
White
Subject Type
family with at least 3 members, including 1 proband, not a trio
Family Type
NUCLEAR FAMILIES - ONE AFFECTED
Hispanic Ethnicity
Not Hispanic/Latino
Ethnicity
german, irish, norwegian
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)
Demographic Data
Relation to Proband
proband
Age at Sampling
16 YR
Gender
Female
Age of Onset(If not a control)
11 YR
Age at Diagnosis(If not a control)
12 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: Motor Neuron Disorders
(Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data?
yes
no
Family History
ALS/other MND
present
absent
unknown
Parkinson's disease
present
absent
unknown
Notes:
GREAT GRANDMOTHER
Alzheimer's disease
present
absent
unknown
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
ALS
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
No Data
Upper Motor Neuron Signs-Cervical/upper limbs
No Data
Upper Motor Neuron Signs-Thoracic/chest
No Data
Upper Motor Neuron Signs-Lumbosacral/lower limbs
No Data
Lower Motor Neuron Signs-Bulbar
No Data
Lower Motor Neuron Signs-Cervical/upper limbs
No Data
Lower Motor Neuron Signs-Thoracic/chest
No Data
Lower Motor Neuron Signs-Lumbosacral/lower limbs
No Data
EMG Studies
Bulbar
No Data
Cervical/upper limbs
No Data
Thoracic/chest
No Data
Lumbosacral/lower limbs
No Data
Genetics
SOD-1 mutation
present
absent
unknown
Other mutation
present
absent
unknown
Notes:
FUS MUTATION
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
Right
Left
Ambidextrous
No data is available
NCBI GTR
105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
OMIM
105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
Omim Description
ALS
AMYOTROPHIC LATERAL SCLEROSIS
AMYOTROPHIC LATERAL SCLEROSIS, TYPE 1; ALS1
No data is available
No data is available
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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NINDS3117