| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
69 YR |
| Gender |
Female |
| Age of Onset(If not a control) |
68 YR |
| Age at Diagnosis(If not a control) |
69 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: Parkinsonism |
| (Baseline) |
| Longitudinal Data |
| Is this data Longitudinal (Follow-Up) Data? |
yes no |
| Family History |
| Family history of parkinsonism |
present absent unknown (subject adopted)
Notes: SISTER HAD SIMILAR PRESENTATION |
| Specific diagnosis |
| Parkinsonism clinical diagnosis |
Parkinson's disease
Progressive Supranuclear Palsy
Diffuse Lewy Body Disease
Multiple System Atrophy
Others
Unaffected primary blood relative of proband
Notes: FTD WITH PARKINSONISM AND ALS |
| Genetic Data of Subject |
| Mutation/s in subject's DNA (if present, describe) |
No Data |
| Signs suggestive of PD diagnosis |
| Asymmetric onset |
present absent |
| Bradykinesis |
present absent |
| Activation tremor |
present absent |
| Resting Tremor |
present absent |
| Postural Instability |
present absent |
| Rigidity |
present absent |
| Gait difficulties |
present absent |
| Response to Anti-Parkinsonism Therapy |
tried and responsive inadequate dose not tried/not given tested and unresponsive |
| Signs suggestive of another diagnosis |
| history of strokes or stepwise deterioration |
present absent |
| history of head injury with loss of consciousness |
present absent |
| history of encephalitis |
present absent |
| Oculogyric crisis |
present absent |
| neuroleptic treatment at time of symptom onset |
present absent |
| sustained remission |
present absent |
| gaze palsy |
present absent |
| Cerebellar signs |
present absent |
| Fluctuations in attention or alertness |
present absent |
| hallucinations |
present absent |
| dysautonomia |
present absent |
| Significant cognitive impairment or dementia |
present absent |
| axial rigidity |
present absent |
| Other |
present absent
Notes: MUSCLE TWITCHING |
| Smoking History |
| smoking history |
never former smoker current smoker |
| years smoking |
53 |
| Optional data |
| Mini-mental status score |
9 |
| Hoehn and Yahr |
No Data |
| UPDRS total motor score |
No Data |
| Handedness |
Right Left Ambidextrous |
| Clinical Element Type: Motor Neuron Disorders |
| (Baseline) |
| 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
Notes: SISTER |
| Alzheimer's disease |
present absent unknown |
| Other dementia |
present absent unknown
Notes: SISTER |
| Other neurodegenerative disease |
present absent unknown
Notes: PGRN C.C26>A |
| 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 |
Other (specify)
Notes: FRONTOTEMPORAL DEMENTIA WITH ALS, PARKINSONISM |
| 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 |
| If tested for SOD-1 mutation, please specify mutation that was screened for: |
No Data |
| TARDBP (TAR DNA binding protein; alias TDP-43) mutation |
Present Absent Unknown |
| If tested for TARDBP mutation, please specify mutation that was screened for: |
No Data |
| FUS (fused in sarcoma) mutation |
Present Absent Unknown |
| If tested for FUS mutation, please specify mutation that was screened for: |
No Data |
| VCP (valosin containing protein) mutation |
Present Absent Unknown |
| If tested for VCP mutation, please specify mutation that was screened for: |
No Data |
| C9ORF72 (chromosome 9 open reading frame 72) repeat expansion |
Present Absent Unknown |
| If tested for C9ORF72 repeat expansion, please provide relevant comments, if any: |
No Data |
| Other mutation |
present absent unknown
Notes: PGRN C.26C>A |
| 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
Notes: CHOREA |
| Optional data |
| Current ALSFRS-R |
No Data |
| FVC |
No Data |
| smoking history |
never former smoker current smoker |
| years smoking |
53 |
| Handedness |
Right Left Ambidextrous |