Coriell Institute
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
Demographic Data
Relation to Proband No Data
Age at Sampling 28 YR
Gender Male
Age of Onset(If not a control) 26 YR
Age at Diagnosis(If not a control) 27 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 
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-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  No Data
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  No Data
smoking history never  former smoker   current smoker 
years smoking  5
Handedness Right  Left   Ambidextrous 
Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, Chiò A, Singleton A, Hardy J, Traynor BJ, Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data Lancet neurology6:322-8 2007
PubMed ID: 17362836
 
Dunckley T, Huentelman MJ, Craig DW, Pearson JV, Szelinger S, Joshipura K, Halperin RF, Stamper C, Jensen KR, Letizia D, Hesterlee SE, Pestronk A, Levine T, Bertorini T, Graves MC, Mozaffar T, Jackson CE, Bosch P, McVey A, Dick A, Barohn R, Lomen-Hoerth C, Rosenfeld J, O'connor DT, Zhang K, Crook R, Ryberg H, Hutton M, Katz J, Simpson EP, Mitsumoto H, Bowser R, Miller RG, Appel SH, Stephan DA, Whole-Genome Analysis of Sporadic Amyotrophic Lateral Sclerosis Lancet neurology6:322-8 2007
PubMed ID: 17671248
 
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M, Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative Lancet neurology6:857-68 2007
PubMed ID: 17826340
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

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