ND33284

Coriell Institute for Medical Research

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ND33284 DNA from Whole Blood

Description:

LEUCINE-RICH REPEAT KINASE2; LRRK2

Affected:

Yes

Gender:

Male

Age:

55 YR (At Sampling)

Overview
Phenotypic Data
External Links

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

Ethnicity

Not Hispanic/Latino

Country of Origin

CANADA

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

55 YR

Gender

Male

Age of Onset(If not a control)

42 YR

Age at Diagnosis(If not a control)

45 YR

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Country

CANADA

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: MOTHER

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
Notes: LRRK2:Y1699C

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

Smoking History

smoking history

never former smoker current smoker

years smoking

No Data

Optional data

Mini-mental status score

Hoehn and Yahr

1.5

UPDRS total motor score

on off

Handedness

Right Left Ambidextrous

External Links

Gene Cards

LRRK2

NCBI GTR

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

OMIM

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

Omim Description

LEUCINE-RICH REPEAT KINASE2; LRRK2

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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