| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
54 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
43 YR |
| Age at Diagnosis(If not a control) |
43 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 |
| 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 |
Bulbar |
| 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 |
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 |
| 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 |
Bulbar |
| 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 |
0 |
| FVC |
No Data |
| smoking history |
never former smoker current smoker |
| years smoking |
No Data |
| Handedness |
Right Left Ambidextrous |
| Clinical Element Type: Motor Neuron Disorders |
| (Longitudinal, Series #3) |
| 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
Notes: REMAINS VENTED 24 HRS PER DAY, FREQUENT URINARY TRACT INFECTIONS, PNEUMONIA 10-2009 REQUIRING HOSPITALIZATION. |
| Secondary Neurological Diagnosis |
| Secondary neurological diagnoses |
Frontotemporal dementia
Other (specify)
Not Applicable
|
| Site of Symptom Onset |
| site of symptom onset |
Bulbar |
| 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 |
0 |
| FVC |
No Data |
| smoking history |
never former smoker current smoker |
| years smoking |
No Data |
| Handedness |
Right Left Ambidextrous |
| Clinical Element Type: Motor Neuron Disorders |
| (Longitudinal, Series #4) |
| 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
Notes: REMAINS VENTED 24 HRS PER DAY, FREQUENT URINARY TRACT INFECTIONS(STRAIGHT CATH QID), RECENT HOSPITALIZATION FOR MULTIPLE MEDICAL ISSUES. OCCASIONAL EYE OPENING. NO RESPONSE OTHER THAN EYE OPENING. NO MOVEMENTS OTHERWISE. |
| Secondary Neurological Diagnosis |
| Secondary neurological diagnoses |
Frontotemporal dementia
Other (specify)
Not Applicable
|
| Site of Symptom Onset |
| site of symptom onset |
Bulbar |
| Treatment |
| Current treatment |
Riluzole
PEG
NIPPV
Tracheotomy
Assisted Ventilation > 23 hours
Other (specify)
No Treatment
Notes: RILUTEK STOPPED 2/2011 DUE TO ELEVATED LFT'S. |
| 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 |
0 |
| FVC |
No Data |
| smoking history |
never former smoker current smoker |
| years smoking |
No Data |
| Handedness |
Right Left Ambidextrous |
| Clinical Element Type: Motor Neuron Disorders |
| (Longitudinal, Series #5) |
| Longitudinal Data |
| Is this data Longitudinal (Follow-Up) Data? |
yes no |
| Disease Duration |
| If Date of Death is known, please specify time for disease duration from onset of symptoms to death: Years |
No Data |
| Months |
No Data |
| 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
Notes: REMAINS VENTED 24 HRS PER DAY, NO VOLUNTARY MOVEMENT. OCCAS EYE CLOSURE BUT NOT ON COMMAND. HYPOTHERMIC. EEG 2/2011 WAS LARGELY NORMAL. MULTIPLE ADMISSION OVER LAST YEAR FOR UTI'S OR PULMONARY. NO SEIZURES REPORTED. |
| Secondary Neurological Diagnosis |
| Secondary neurological diagnoses |
Frontotemporal dementia
Other (specify)
Not Applicable
|
| Site of Symptom Onset |
| site of symptom onset |
Bulbar |
| Treatment |
| Current treatment |
Riluzole
PEG
NIPPV
Tracheotomy
Assisted Ventilation > 23 hours
Other (specify)
No Treatment
Notes: RILUTEK STOPPED 2/2011 DUE TO ELEVATED LFT'S. |
| 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 |
| If tested for SOD-1 mutation, please specify mutation that was screened for: |
No Data |
| TARDBP (TAR DNA binding protein; alias TDP-43) mutation |
No Data |
| If tested for TARDBP mutation, please specify mutation that was screened for: |
No Data |
| FUS (fused in sarcoma) mutation |
No Data |
| If tested for FUS mutation, please specify mutation that was screened for: |
No Data |
| VCP (valosin containing protein) mutation |
No Data |
| If tested for VCP mutation, please specify mutation that was screened for: |
No Data |
| C9ORF72 (chromosome 9 open reading frame 72) repeat expansion |
No Data |
| If tested for C9ORF72 repeat expansion, please provide relevant comments, if any: |
No Data |
| Other mutation |
No Data |
| If tested for other mutations, please specify mutation that was screened for: |
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 |
0 |
| FVC |
No Data |
| smoking history |
never former smoker current smoker |
| years smoking |
No Data |
| Handedness |
Right Left Ambidextrous |