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search submit
ND21951
DNA
from
Whole Blood
Description:
NEURODEGENERATIVE OVERLAP SYNDROME
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
Affected:
Yes
Gender:
Male
Age:
68
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
External Links
Overview
Repository
NINDS Repository
Subcollection
Motor Neuron Disease
Parkinsonism
Quantity
3 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Sample Source
DNA from Whole Blood
Race
White
Subject Type
case-spouse
Family Type
NUCLEAR FAMILIES - ONE AFFECTED
Ethnicity
Not Hispanic/Latino
Country of Origin
POLAND
Family Member
1
Family History
N
Relation to Proband
proband
Note
This material represents a finite resource (DNA from Whole Blood)
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
68 YR
Gender
Male
Age of Onset(If not a control)
62 YR
Age at Diagnosis(If not a control)
62 YR
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
White
Country
POLAND
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
Alzheimer's disease
present
absent
unknown
Other dementia
present
absent
unknown
Other neurodegenerative disease
present
absent
unknown
Notes:
MOTHER HAD GAIT PRBLEMS/PERSONALITY CHANGES
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
Other (specify)
Notes:
OVERLAP SYNDROME
Secondary Neurological Diagnosis
Secondary neurological diagnoses
Frontotemporal dementia
Other (specify)
Not Applicable
Notes:
ALS, PLS, PARKINSONISM
Site of Symptom Onset
site of symptom onset
Limb-lower
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
present
absent
unknown
Other mutation
present
absent
unknown
Atypical Features of ALS/MND
Atypical features of ALS/MND
sensory
autonomic
cerebellar
cognitive
Parkinsonian
sphincter
ocular
other
Notes:
PERSONALITY CHANGES
Optional data
Current ALSFRS-R
No Data
FVC
No Data
smoking history
never
former smoker
current smoker
years smoking
2 PKS PER/DAY FOR 2 YRS QUIT 40YRS AGO
Handedness
Right
Left
Ambidextrous
External Links
NCBI GTR
105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
OMIM
105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
Culture Protocols
Supplement
-
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
Related Products
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NINDS1991