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ND39700 DNA from Whole Blood

Description:

NEURODEGENERATIVE OVERLAP SYNDROME

Affected:

Yes

Sex:

Male

Age:

58 YR (At Sampling)

  • Overview
  • Phenotypic Data

Overview

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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 White
Family Type OTHER
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

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Demographic Data
Relation to Proband No Data
Age at Sampling 58 YR
Sex Male
Age of Onset(If not a control) 31 YR
Age at Diagnosis(If not a control) 53 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: 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: FAMILY HISTORY OF MCLEOD SYNDROME, AFFECTED BROTHER, MOTHER IS CARRIER OF XK GENE MUTATION
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: MCLEOD SYNDROME, XK GENE MUTATION, CHOREA, SEIZURES, MILD COGNITIVE DECLINE, ELEVATED SERUM CREATINE PHOSPHOKINASE
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

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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