Repository NINDS Repository
Subcollection Motor Neuron Disease
Quantity 3 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Hispanic Ethnicity Not Hispanic/Latino
Country of Origin USA
Family History N
Species Homo sapiens
Common Name Human
Remarks A4V SOD-1 mutation
Remarks A4V SOD-1 mutation
Gene SOD1
Chromosomal Location 21q22.11
Allelic Variant 1 147450.0012; AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL
Identified Mutation ALA4VAL; Deng et al. (1993) found that the ala4-to-val mutation in exon 1 of the SOD1 gene is the most frequent basis for familial amyotrophic lateral sclerosis. This mutation was found in 8 unrelated families. Rosen et al. (1994) confirmed that the ala4-to-val mutation is the most commonly detected of all SOD1 mutations in familial ALS and that it is among the most clinically severe. In comparison with other ALS families, the exon 1 mutation is associated with reduced survival time after onset: 1.2 years, as compared to 2.5 years for all other familial ALS patients.
Demographic Data
Relation to Proband No Data
Age at Sampling 26 YR
Gender Male
Age of Onset(If not a control) 25 YR
Age at Diagnosis(If not a control) 26 YR
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category Caucasian
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: MOTHER, MATERNAL GRANDMOTHER
Parkinson's disease present  absent   unknown 
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  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 
Notes: A4V
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  92
smoking history never   former smoker  current smoker 
years smoking  No Data
Handedness Right   Left  Ambidextrous 
Clinical Element Type: Motor Neuron Disorders
  (Longitudinal, Series #2)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data? yes   no 
Family History
ALS/other MND present   absent  unknown 
Notes: MOTHER, MATERNAL GRANDMOTHER
Parkinson's disease present  absent   unknown 
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  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 
Notes: A4V
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  96%
smoking history never   former smoker  current smoker 
years smoking  No Data
Handedness Right   Left  Ambidextrous 
Remark A4V SOD-1 mutation
No data is available
No data is available
Split Ratio (Frequency) 1:5 (4 Days)
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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
Remarks A4V SOD-1 mutation