ND39700

Coriell Institute for Medical Research

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ND39700 DNA from Whole Blood

Description:

NEURODEGENERATIVE OVERLAP SYNDROME

Affected:

Yes

Gender:

Male

Age:

58 YR (At Sampling)

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

White

Family Type

OTHER

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family History

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

58 YR

Gender

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

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

Add to Cart

How to Order

Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form

Our mission is to prevent and cure disease through biomedical research.

CUSTOMER SERVICE
customerservice@coriell.org (800) 752-3805 • (856) 757-4848

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

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