ND28089

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

Subject Type

case-spouse

Family Type

NUCLEAR FAMILIES - ONE AFFECTED

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Note

This material represents a finite resource (DNA from Whole Blood)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

53 YR

Gender

Male

Age of Onset(If not a control)

51 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: Additional PSP subjects (others grouped with Parkinsonism)

(Baseline)

Longitudinal Data

Is this data Longitudinal (Follow-Up) Data?

yes no

Family History

Family history of Progressive Supranuclear Palsy

present absent unknown

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

present absent

Signs suggestive of PSP diagnosis

Vertical gaze palsy

present absent

Slowing of vertical saccades

present absent

Intact oculocephalic reflexes

present absent

Bradykinesis

present absent

Rigidity (axial>limb)

present absent

Parkinsonism with asymmetrical onset

present absent

Emotional incontinence

present absent

Symptom onset not due to: visual, vestibular, cerebellar, sensory dysfunction

present absent

Frontal lobe dysfunction (bradyphrenia, forced grasping, perseveration, utilization behavior)

present absent

Signs suggestive of another diagnosis

Response to Levodopa

present absent

Tremor

present absent

Cerebellar signs

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

Early severe autonomic involvement

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

Unilateral Babinski sign

present absent

Brain tumor

present absent

Prior history of repeated head injury

present absent

Optional data

PSP Rating Scale total score

No Data

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)

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

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

No Data

UPDRS total motor score

No Data

Handedness

Right Left Ambidextrous

External Links

NCBI GTR

601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1

OMIM

601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1

Omim Description

STEELE-RICHARDSON-OLSZEWSKI SYNDROME

SUPRANUCLEAR PALSY, PROGRESSIVE

Culture Protocols

Supplement

Description:

PROGRESSIVE SUPRANUCLEAR PALSY

Affected:

Yes

Gender:

Male

Age:

53 YR (At Sampling)

Overview

Phenotypic Data

External Links

Culture Protocols