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search submit
ND10645
DNA
from
LCL
Description:
KENNEDY'S DISEASE (SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1)
Affected:
Yes
Gender:
Male
Age:
81
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
External Links
Overview
Repository
NINDS Repository
Subcollection
Motor Neuron Disease
Quantity
20 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
White
Ethnicity
Not Hispanic/Latino
Country of Origin
USA
Family History
Y
Species
Homo
sapiens
Common Name
Human
Phenotypic Data
Demographic Data
Relation to Proband
No Data
Age at Sampling
81 YR
Gender
Male
Age of Onset(If not a control)
70 YR
Age at Diagnosis(If not a control)
80 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
Alzheimer's disease
present
absent
unknown
Other dementia
present
absent
unknown
Other neurodegenerative disease
present
absent
unknown
Notes:
KENNEDY-NEPHEW
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:
KENNEDYS
Secondary Neurological Diagnosis
Secondary neurological diagnoses
Frontotemporal dementia
Other (specify)
Not Applicable
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
No Data
Other mutation
present
absent
unknown
Notes:
CAG REPEAT-41
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
No Data
years smoking
No Data
Handedness
No Data
External Links
NCBI GTR
313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
OMIM
313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
Omim Description
BULBOSPINAL MUSCULAR ATROPHY, X-LINKED
BULBOSPINAL NEURONOPATHY, X-LINKED RECESSIVE; XBSNSPINAL MUSCULAR ATROPHY, BENIGN, WITH HYPERTROPHY OF CALVES, INCLUDED
KENNEDY DISEASE; KD
KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
SPINAL AND BULBAR MUSCULAR ATROPHY; SBMA
Culture Protocols
Temperature
37 C
Percent CO2
5%
Medium
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not Inactivated
Substrate
None specified
Subcultivation Method
dilution - add fresh medium
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
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How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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ND10645 - B-Lymphocyte