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
Race Caucasian
Hispanic Ethnicity Not Hispanic/Latino
Country of Origin USA
Family History Y
Species Homo sapiens
Common Name Human
Demographic Data
Relation to Proband No Data
Age at Sampling 16 YR
Gender Female
Age of Onset(If not a control) 15 YR
Age at Diagnosis(If not a control) 16 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: SISTER HAS WEAKNESS
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

Notes: MMS = 30/30
Site of Symptom Onset
site of symptom onset  Limb-upper
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
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 
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M, ITALSGEN Consortium M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ, A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron72:257-68 2011
PubMed ID: 21944779
No data is available
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