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ND38003 DNA from Whole Blood

Description:

FRONTOTEMPORAL DEGENERATION
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

Affected:

Yes

Sex:

Female

Age:

69 YR (At Sampling)

  • Overview
  • Phenotypic Data
  • External Links

Overview

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Repository NINDS Repository
Subcollection Frontotemporal Degeneration
Quantity 3 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Sample Source DNA from Whole Blood
Race White
Subject Type family pair other than sibs or parent-child
Family Type MULTIGENERATIONAL FAMILIES - ONE AFFECTED
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Species Homo sapiens
Common Name Human
Note This material represents a finite resource (DNA from Whole Blood)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 69 YR
Sex 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 

External Links

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NCBI GTR 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
600274 FRONTOTEMPORAL DEMENTIA; FTD
OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
600274 FRONTOTEMPORAL DEMENTIA; FTD
Omim Description DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX; DDPAC
  WILHELMSEN-LYNCH DISEASE; WLD

Culture Protocols

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Supplement -
Pricing
Commercial and Non-U.S.:
$0.00USD
U.S. Academic or
Non-profit:
$0.00USD
NINDS Repository Submitter (past or current) and/or Current NINDS Grantee
$0.00USD
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