What data should be collected on CONTROL SUBJECTS? Katrina Gwinn-Hardy MD, NINDS

The NINDS Repository Established Samples and Clinical data on Parkinsons, Stroke, Epilepsy, ALS Over 3000 samples on affected, controls, families with accompanying data

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 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 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 Spouses are great.. We insist on spousal controls…. Its so important…Controls need to be population.. And also…age and gender matched… It doesn’t matter as long as you get a lot use of spousal controls Will lead to grievous errors

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 Demographic Age, Gender, Race Type of control Unaffected Spouse (indicate spouse diagnosis, ID) Population Control Convenience 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 Relationship Any other samples from family Smoking Hx Who collected data Neurologist, other MD, non-MD Was the subject examined? Results of neuro exam normal? MMSE

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 Collected Approximately 1000 Available now About 50 Available soon at a repository near you About 300

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 features are being collected that are useful? What is missing?