ND38935

Coriell Institute for Medical Research

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ND38935 DNA from Whole Blood

Description:

ARTERIOVENOUS FISTULAS

Affected:

Yes

Gender:

Female

Age:

11 YR (At Sampling)

Overview
Phenotypic Data
External Links

Overview

Repository

NINDS Repository

Subcollection

Cerebrovascular Disease

Quantity

3 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Sample Source

DNA from Whole Blood

Race

More than one race

Ethnicity

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

11 YR

Gender

Female

Age of Onset(If not a control)

21 MO

Age at Diagnosis(If not a control)

21 MO

Hispanic or Latino/Not Hispanic or Latino

Hispanic/Latino

Racial Category

More than one race

Country

USA

Diagnosed By

No Data

Data Elements

Clinical Element Type: Cerebrovascular Disease

(Baseline)

Longitudinal Data

Is this data Longitudinal (Follow-Up) Data?

yes no

Smoking History

smoking history

never former smoker current smoker

years smoking

No Data

Family History

Family history of Cerebrovascular Disease

present absent Unknown

Family History of Aneurysm

present absent Unknown

Aneurysm Location of affected Family Member

No Data

Specific diagnosis

Cerebrovascular diagnosis

silent cerebral infarction
transient ischemic attack
unruptured intracranial aneurysm
symptomatic ischemic stroke
symptomatic intracerebral hemorrhage
aneurysmal subarachnoid hemorrhage
vascular cognitive impairment
arteriovenous malformations (AVM)
other
Unaffected primary blood relative of proband
Cerebral Cavernous Malformation (CCM)
Hereditary Hemorrhagic Telangiectasia (HHT)

Prior Medical History

Pre-existing history of dementia

Present Absent

Pre-hemorrhage history of ischemic stroke

Present Absent Not Applicable

TOAST criteria

ischemic stroke subtype based on TOAST

not applicable

AVM subtype criteria

AVM type

unruptured ruptured not applicable

Spetzler-Martin score

3 PIAL AVFS AT DIAGNOSIS AND MULTIPLE REGIONS OF ARTERIAL-VENOUS SHUNTING AND HYPERVASCULAR BLUSH, WHICH APPEAR TO HAVE UNDERGONE MODERATE CHANGES IN SIZE BASED ON ANGIOGRAMS FROM 2002, 2007, 2009, AND 2012

Size

<30mm 30-60mm >60mm

AVM Location

Eloquent Non-eloquent

Venous drainage

Superficial Deep Both

Drainage Location

cortical
subcortical/deep
posterior fossa

Confirmation of diagnosis

did a neurologist confirm the cerebrovascular diagnosis

yes no

Medical History

hypertension

yes no

diabetes mellitus

yes no

atrial fibrillation

yes no

myocardial infarction

yes no

Other risk factors

yes no

Genetic Data of Subject

Mutation/s in subject's DNA (if present, describe)

present absent unknown

Medical History

Hypertension treated with medication

yes no

Blood pressure (at time of blood draw)

UNKNOWN

Other diagnosis

Parkinson's disease

yes no

Alzheimer's disease

yes no

Epilepsy

yes no

Amyotrophic lateral sclerosis

yes no

Dementia

yes no

Other Neurological Diagnosis(es)

yes no

Optional data

State Examination (MMSE) score

No Data

Neurological examination

No Data

Handedness

Right Left Ambidextrous

Montreal Cognitive Assessment(MoCA) score

No Data

Clinical Element Type: Hereditary Hemorrhagic Telangiectasia (HHT)

(Baseline)

Smoking History

Smoking History:

Never Previous Current

Pack-years, if applicable:

No Data

Family History

Family History of HHT:

Present Absent Unknown

If Present, List Affected Family Members:

FATHER AND PATERNAL GRANDFATHER WITH EPISTAXIS, BUT NO SCREENING FOR AVMS

Diagnostic Criteria

HHT Clinical Diagnosis:

Definite Possible Uncertain Unknown

HHT Mutation:

endoglin
alk1
smad4
unknown

HHT Specific Mutation:

No Data

Brain AVM Present:

Yes No Unknown

Other AVM Present

Pulmonary
Liver
Gastrointestinal
Other

If other, please specify

No Data

Notes:

LIKELY LIVER AVM SEEN ON CT BUT NOT FURTHER EVALUATED

Medical History

Hypertension

Present Absent

Diabetes mellitus

Present Absent

Atrial fibrillation

Present Absent

Myocardial infarction

Present Absent

Other Risk Factors:

No Data

External Links

NCBI GTR

108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN

OMIM

108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN

Omim Description

ARTERIOVENOUS MALFORMATIONS OF THE BRAIN

CEREBRAL ARTERIOVENOUS MALFORMATIONS

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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