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ND10966 LCL from B-Lymphocyte

Description:

AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

Affected:

Yes

Sex:

Male

Age:

65 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NINDS Repository
Subcollection Motor Neuron Disease
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

Characterizations

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Gene C9ORF72
Chromosomal Location 9p21
Allelic Variant 1 614260.0001; FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS
Identified Mutation (GGGGCC)n EXPANSION; DeJesus-Hernandez et al. (2011) identified a polymorphic hexanucleotide repeat (GGGGCC) located between the noncoding exons 1a and 1b of the C9ORF72 gene. The maximum size of the repeat in healthy controls was 23 units, whereas it was expanded in members of a large family with frontotemporal dementia and/or anyotrophic lateral sclerosis mapping to chromosome 9p21 (FTDALS; 105550) (Boxer et al., 2011). Affected individuals had expanded repeat units ranging from 700 to 1,600. Further analysis identified this expanded hexanucleotide repeat in 16 (61.5%) of a series of 26 families with the disorder, as well as in 11.7% of familial FTD and 23.5% of familial ALS from 3 patient series. Sporadic cases with the expansion were also identified. Overall, 75 (10.4%) of 722 unrelated patients with FTD, ALS, or both were found to carry an expanded GGGGCC repeat, and DeJesus-Hernandez et al. (2011) concluded that it is the most common genetic abnormality in FTD/ALS. Longer repeats were associated with the A allele at SNP rs3849942, which marked a disease haplotype. The expanded repeat is located in the promoter region of C9ORF72 transcript variant 1 and in intron 1 of transcript variants 2 and 3. Tissue from affected individuals showed reduced or absent mRNA levels of C9ORF72 variants 1 and 3 compared to nonrepeat carriers, consistent with a loss-of-function mechanism. However, protein levels of these variants were similar to controls, and analysis of patient frontal cortex and spinal cord tissue showed that the transcribed expanded GGGGCC repeat formed nuclear RNA foci, suggesting a gain-of-function mechanism. Simultaneously and independently, Renton et al. (2011) identified the GGGGCC expanded repeat as a cause of FTD/ALS in families reported by Pearson et al. (2011) and Mok et al. (2011). The expanded repeat was also found in 46.4% of Finnish familial ALS cases and in 21% of sporadic cases. PCR assays showed that Finnish controls had between 0 and 22 repeats. FISH studies showed that the expansion in a family from Wales (Pearson et al., 2011) was at least 250 repeats. In addition, an expanded repeat was found in 102 (38.1%) of 268 familial ALS probands of European origin. Real-time RT-PCR analysis of expression in frontal cortex tissue from patients and controls did not detect conclusive changes in RNA levels and produced inconsistent results. Nevertheless, Renton et al. (2011) postulated that a disruption in RNA metabolism likely underlies this disorder.

Phenotypic Data

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Demographic Data
Relation to Proband No Data
Age at Sampling 65 YR
Sex Male
Age of Onset(If not a control) 64 YR
Age at Diagnosis(If not a control) 64 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 
Notes: MOTHER, FIRST COUSIN
Parkinson's disease present  absent   unknown 
Alzheimer's disease present  absent   unknown 
Other dementia present  absent   unknown 
Other neurodegenerative disease  No Data
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 present   absent  unknown 
Notes: C9ORF72: (GGGGCC)N EXPANSION
Atypical Features of ALS/MND
Atypical features of ALS/MND sensory
autonomic
cerebellar
cognitive
Parkinsonian
sphincter
ocular
other
Optional data
Current ALSFRS-R  45/48
FVC  No Data
smoking history  No Data
years smoking  No Data
Handedness  No Data

Publications

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Liu EY, Russ J, Wu K, Neal D, Suh E, McNally AG, Irwin DJ, Van Deerlin VM, Lee EB, C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD Acta neuropathologica128:525-41 2014
PubMed ID: 24806409
 
Russ J, Liu EY, Wu K, Neal D, Suh E, Irwin DJ, McMillan CT, Harms MB, Cairns NJ, Wood EM, Xie SX, Elman L, McCluskey L, Grossman M, Van Deerlin VM, Lee EB, Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier Acta neuropathologica129:39-52 2014
PubMed ID: 25388784
 
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
 
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

External Links

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NCBI GTR 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
Omim Description ALS
  AMYOTROPHIC LATERAL SCLEROSIS
  AMYOTROPHIC LATERAL SCLEROSIS, TYPE 1; ALS1
dbGaP Link phs000101.v4.p1

Culture Protocols

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Split Ratio (Frequency) 1:3 (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 20% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
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