ND14340

Coriell Institute for Medical Research

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ND14340 LCL from B-Lymphocyte

Description:

PRIMARY LATERAL SCLEROSIS
ALS PANEL; GREATER THAN 7 YEARS SURVIVAL
PRIMARY LATERAL SCLERORIS: CAUCASIAN, NON-HISPANIC

Affected:

Yes

Gender:

Female

Age:

71 YR (At Sampling)

Overview
Phenotypic Data
Publications
External Links
Culture Protocols

Overview

Repository

NINDS Repository

Subcollection

Motor Neuron Disease

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family History

Species

Homo sapiens

Common Name

Human

Phenotypic Data

Demographic Data

Relation to Proband

No Data

Age at Sampling

71 YR

Gender

Female

Age of Onset(If not a control)

64 YR

Age at Diagnosis(If not a control)

69 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: Motor Neuron Disorders

(Baseline)

Longitudinal Data

Is this data Longitudinal (Follow-Up) Data?

yes no

Family History

ALS/other MND

present absent unknown

Parkinson's disease

present absent unknown

Alzheimer's disease

present absent unknown

Other dementia

present absent unknown

Other neurodegenerative disease

present absent unknown

Medical History

Alzheimer's disease

present absent

Ataxia

present absent

Autism

present absent

Bipolar (manic-depressive)

present absent

Brain aneurysm

present absent

Cancer

present absent

Dementia

Alzheimer's
Dementia
absent

Depression

present absent

Diabetes

present absent

Dystonia

present absent

Epilepsy

present absent

Heart disease

present absent

Hypertension

present absent

Multiple sclerosis

present absent

Muscle disease

present absent

Parkinson's

present absent

Schizophrenia

present absent

Suicide/Attempt

present absent

Stroke

present absent

Primary Clinical Diagnosis

Primary clinical diagnosis

Primary Lateral Sclerosis

Secondary Neurological Diagnosis

Secondary neurological diagnoses

Frontotemporal dementia
Other (specify)
Not Applicable

Site of Symptom Onset

site of symptom onset

Limb-lower

Treatment

Current treatment

Riluzole
PEG
NIPPV
Tracheotomy
Assisted Ventilation > 23 hours
Other (specify)
No Treatment

Signs Supporting Diagnosis

Upper Motor Neuron Signs-Bulbar

definite indeterminate absent not tested

Upper Motor Neuron Signs-Cervical/upper limbs

definite indeterminate absent not tested

Upper Motor Neuron Signs-Thoracic/chest

definite indeterminate absent not tested

Upper Motor Neuron Signs-Lumbosacral/lower limbs

definite indeterminate absent not tested

Lower Motor Neuron Signs-Bulbar

definite indeterminate absent not tested

Lower Motor Neuron Signs-Cervical/upper limbs

definite indeterminate absent not tested

Lower Motor Neuron Signs-Thoracic/chest

definite indeterminate absent not tested

Lower Motor Neuron Signs-Lumbosacral/lower limbs

definite indeterminate absent not tested

EMG Studies

Bulbar

acute denervation chronic denervation negative not examined acute/chronic denervation

Cervical/upper limbs

acute denervation chronic denervation negative not examined acute/chronic denervation

Thoracic/chest

acute denervation chronic denervation negative not examined acute/chronic denervation

Lumbosacral/lower limbs

acute denervation chronic denervation negative not examined acute/chronic denervation

Genetics

SOD-1 mutation

No Data
Notes: NOT TESTED

Other mutation

No Data
Notes: NOT TESTED

Atypical Features of ALS/MND

Atypical features of ALS/MND

sensory
autonomic
cerebellar
cognitive
Parkinsonian
sphincter
ocular
other

Notes: NONE

Optional data

Current ALSFRS-R

FVC

smoking history

never former smoker current smoker

years smoking

No Data

Handedness

Right Left Ambidextrous

Clinical Element Type: Motor Neuron Disorders

(Longitudinal, Series #2)

Longitudinal Data

Is this data Longitudinal (Follow-Up) Data?

yes no

Family History

ALS/other MND

present absent unknown

Parkinson's disease

present absent unknown

Alzheimer's disease

present absent unknown

Other dementia

present absent unknown

Other neurodegenerative disease

present absent unknown

Medical History

Alzheimer's disease

present absent

Ataxia

present absent

Autism

present absent

Bipolar (manic-depressive)

present absent

Brain aneurysm

present absent

Cancer

present absent

Dementia

Alzheimer's
Dementia
absent

Depression

present absent

Diabetes

present absent

Dystonia

present absent

Epilepsy

present absent

Heart disease

present absent

Hypertension

present absent

Multiple sclerosis

present absent

Muscle disease

present absent

Parkinson's

present absent

Schizophrenia

present absent

Suicide/Attempt

present absent

Stroke

present absent

Primary Clinical Diagnosis

Primary clinical diagnosis

Primary Lateral Sclerosis

Secondary Neurological Diagnosis

Secondary neurological diagnoses

Frontotemporal dementia
Other (specify)
Not Applicable

Site of Symptom Onset

site of symptom onset

Limb-lower

Treatment

Current treatment

Riluzole
PEG
NIPPV
Tracheotomy
Assisted Ventilation > 23 hours
Other (specify)
No Treatment

Signs Supporting Diagnosis

Upper Motor Neuron Signs-Bulbar

definite indeterminate absent not tested

Upper Motor Neuron Signs-Cervical/upper limbs

definite indeterminate absent not tested

Upper Motor Neuron Signs-Thoracic/chest

definite indeterminate absent not tested

Upper Motor Neuron Signs-Lumbosacral/lower limbs

definite indeterminate absent not tested

Lower Motor Neuron Signs-Bulbar

definite indeterminate absent not tested

Lower Motor Neuron Signs-Cervical/upper limbs

definite indeterminate absent not tested

Lower Motor Neuron Signs-Thoracic/chest

definite indeterminate absent not tested

Lower Motor Neuron Signs-Lumbosacral/lower limbs

definite indeterminate absent not tested

EMG Studies

Bulbar

acute denervation chronic denervation negative not examined acute/chronic denervation

Cervical/upper limbs

acute denervation chronic denervation negative not examined acute/chronic denervation

Thoracic/chest

acute denervation chronic denervation negative not examined acute/chronic denervation

Lumbosacral/lower limbs

acute denervation chronic denervation negative not examined acute/chronic denervation

Genetics

SOD-1 mutation

No Data
Notes: NOT TESTED

Other mutation

No Data
Notes: NOT TESTED

Atypical Features of ALS/MND

Atypical features of ALS/MND

sensory
autonomic
cerebellar
cognitive
Parkinsonian
sphincter
ocular
other

Notes: NONE

Optional data

Current ALSFRS-R

FVC

88%

smoking history

never former smoker current smoker

years smoking

No Data

Handedness

Right Left Ambidextrous

Publications

Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, Calvo A, Mandrioli J, Benatar M, Mora G, Restagno G, Chiò A, Traynor BJ, Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis Neurobiology of aging33:2231.e1-6 2012

PubMed ID: 22572540

External Links

NCBI GTR

606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ

OMIM

606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ

Culture Protocols

Temperature

37 C

Percent CO2

Medium

Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not Inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Pricing

Commercial:

$0.00USD

Academic &
Non-profit:

$0.00USD

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How to Order

Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form

Description:

PRIMARY LATERAL SCLEROSIS ALS PANEL; GREATER THAN 7 YEARS SURVIVAL PRIMARY LATERAL SCLERORIS: CAUCASIAN, NON-HISPANIC

Affected:

Yes

Gender:

Female

Age:

71 YR (At Sampling)

Overview

Phenotypic Data

Publications

External Links

Culture Protocols

PRIMARY LATERAL SCLEROSIS
ALS PANEL; GREATER THAN 7 YEARS SURVIVAL
PRIMARY LATERAL SCLERORIS: CAUCASIAN, NON-HISPANIC