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What data should be collected on CONTROL SUBJECTS?. Katrina Gwinn-Hardy MD, NINDS. The NINDS Repository. Established 10-02 Samples and Clinical data on Parkinsons, Stroke, Epilepsy, ALS Over 3000 samples on affected, controls, families with accompanying data http://locus.umdnj.edu/ninds.

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the ninds repository
The NINDS Repository
  • Established 10-02
  • Samples and Clinical data on Parkinsons, Stroke, Epilepsy, ALS
  • Over 3000 samples on affected, controls, families with accompanying data
  • http://locus.umdnj.edu/ninds
our goal for control samples
Our Goal for Control Samples
  • Have enough clinical details to allow investigator to include those ideal for his/her study
    • Are “true” controls
  • Can be useful across multiple collections
    • Tend to be harder to accumulate than cases
control collections
Control Collections
  • Most Controls collections have minimal if any data
  • Population based
    • Gender, age
  • Others
    • Same data as cases
    • May not allow broad use for other disease entities?
a review of the literature
A Review of the Literature

Oh no!

there’s no statements on criteria for controls in genetics studies per se! Many studies don’t describe any clinical features, just demographics…..

ask the experts
Ask the experts

It doesn’t matter as long as you get a lot

Its so important…Controls need to be population

.. And also…age and gender matched…

use of spousal controls

Will lead to grievous errors

Spouses are great.. We insist on spousal controls….

the next source of inspiration
The next source of inspiration
  • Sailing

“If you can’t tie good knots, tie a lot of them”

    • Population based
      • Hard to get
    • Convenience Controls
      • Not easy to get
    • Spouse controls
      • Some feel they are terrible
      • Some feel they are excellent
      • (Very few are indifferent)
data collected

Age, Gender, Race

Type of control

Unaffected Spouse (indicate spouse diagnosis, ID)

Population Control


Medical History

Alz, ALS, Ataxia, Autism, Bipolar, Aneurysm, Cancer, Dementia, Depression, Diabetes, Dystonia, Epilepsy,,CAD, Memory Loss Migraine, MS, Muscle disease, PD, Schizophrenia, Suicide, Stroke

Family History

Same disorders


Any other samples from family

Smoking Hx

Who collected data

Neurologist, other MD, non-MD

Was the subject examined?

Results of neuro exam normal?


Data Collected
current control data
Current Control Data
  • No Neurological Disease
  • Detailed Medical History
    • For those over a “certain age”, everyone has some medical history
  • No FH of Neurological Disease
    • Detailed FH in first degree relatives
  • Smoking
  • Normal Neurological Examination
currently collection
Currently Collection
  • Collected
    • Approximately 1000
  • Available now
    • About 50
  • Available soon at a repository near you
    • About 300
positive controls
Positive Controls
  • Currently available (Catalogue):
    • Known genetic variant collection
    • Subject with Parkin homozygous deletion
    • Subjects with alpha-synuclein triplication (and at risk, not at risk family members)
    • Others as discoveries are made, collection expands
what do you think is important
What do you think is important?
  • What features are being collected that are useful?
  • What is missing?