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search submit
ND20604
DNA
from
Whole Blood
Description:
MULTIPLE SYSTEM ATROPHY
Affected:
Yes
Gender:
Female
Age:
43
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
Overview
Repository
NINDS Repository
Subcollection
Parkinsonism
Quantity
3 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Sample Source
DNA from Whole Blood
Race
Black/African American
Ethnicity
Not Hispanic/Latino
Country of Origin
USA
Family History
N
Species
Homo
sapiens
Common Name
Human
Note
This material represents a finite resource (DNA from Whole Blood)
Phenotypic Data
Demographic Data
Relation to Proband
No Data
Age at Sampling
43 YR
Gender
Female
Age of Onset(If not a control)
23 YR
Age at Diagnosis(If not a control)
23 YR
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
Black/African American
Country
USA
Diagnosed By
No Data
Data Elements
Clinical Element Type: Multiple System Atrophy
(Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data?
yes
no
Family History
Family history of Multiple System Atrophy
present
absent
Notes:
MATERNAL COUSIN
Best Clinical Diagnosis
Progressive supranuclear palsy
present
absent
Diffuse Lewy Body disease
present
absent
Multiple system atrophy
present
absent
Gaze palsy
present
absent
Alzheimer's disease
present
absent
Corticobasal ganglionic degeneration
present
absent
Dementia
present
absent
Other (specify)
present
absent
Notes:
MULTIPLE SCLEROSIS
Signs suggestive of MSA diagnosis
Orthostatic hypotension
present
absent
Urinary incontinence
present
absent
Incomplete bladder emptying
present
absent
Bradykinesia
present
absent
Rigidity
present
absent
Postural Instability
present
absent
Tremor
present
absent
Gait ataxia
present
absent
Ataxic dysarthria
present
absent
Limb ataxia
present
absent
Sustained gaze-evoked nystagmus
present
absent
Extensor plantar responses with hyperreflexia
present
absent
Features Suggestive of Another Diagnosis
Responsive to Levodopa
present
absent
Oculogyric crisis
present
absent
Neuroleptic treatment onset
present
absent
Hydrocephalus
present
absent
Delusions
present
absent
Early severe dementia
present
absent
Whipple's disease
present
absent
Focal sensory deficit
present
absent
History of hypoxia/anoxia
present
absent
History of alien limb syndrome
present
absent
History of repeated strokes
present
absent
History of encephalitis
present
absent
Brain tumor
present
absent
Prior history of repeated head injury
present
absent
Optional data
MSA Rating Scale Total Score
No Data
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)
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
Genetic Data of Subject
Mutation/s in subject's DNA (if present, describe)
present
absent
unknown
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 (other than activation tremor)
present
absent
Fluctuations
present
absent
hallucinations
present
absent
dysautonomia
present
absent
Memory loss
present
absent
axial rigidity
present
absent
Other
present
absent
Notes:
POSTURAL INSTABILITY
Smoking History
smoking history
never
former smoker
current smoker
years smoking
2
Optional data
Mini-mental status score
29
Hoehn and Yahr
No Data
UPDRS total motor score
No Data
Handedness
Right
Left
Ambidextrous
Culture Protocols
Supplement
-
Pricing
Commercial and Non-U.S.:
$0.00
USD
U.S. Academic or
Non-profit:
$0.00
USD
NINDS Repository Submitter (past or current) and/or Current NINDS Grantee
$0.00
USD
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