Perceptions

In August, I explained in this editorial column why the issue's theme--migraine--was particularly meaningful to me: I had suffered with frequent migraine headaches from childhood up until my mid-thirties. The theme of the current issue is stroke. Why? Namely because Applied Neurology, like dozens of other medical journals, will have a presence at the International Stroke Conference, and this particular issue will be distributed at the conference. That aside, however, the topic of stroke, like migraine, has a special place in my . . . brain--or genes to be specific.

My father and 1 of my 2 sisters tested positive for factor V Leiden mutation, the most common hereditary blood coagulation disorder in the United States (present in about 3% to 7% of white persons of European descent).¹ Although most persons with factor V Leiden mutation live normal, healthy lives, venous thrombosis is much more likely to occur in persons with the mutation than in those without it.^2-4 It tends to do its dirty work in pregnant women and in persons with concomitant genetic or metabolic problems or those with unhealthy lifestyles. Lines also have been drawn between the mutation and stroke and arterial thrombotic disease.

The testing of my family members came about when my sister, in heroic attempts to procreate, ended up having a barrage of genetic tests. When factor V Leiden was identified, she campaigned for other family members to be tested. All of my immediate relatives--father, mother, my other sibling, and an aunt--ran off to have blood drawn. I have not been tested; although I requested testing during my last visit to a primary care provider, the laboratory technician or the nurse (or whoever) kind-of-sort-of threw away the vial of blood extracted from me for that particular test. (My father ran into the same situation, by the way. Tsk, tsk, docs. He, however, went for another blood draw so that the test would be done.)

Family members sometimes nag me about completing the testing--but do I need to? Indeed, when I discussed the situation with my primary care physician, he tried to dissuade me before going ahead with the blood draw. I understood and appreciated why. I did not need the stress that goes with the confirmation that I have a genetic predisposition to a thrombotic condition. I also did not need to have the tidbit emblazoned like a scarlet letter on my health insurance record. It was enough to know, for the medical record, that I had a proband.

Although I am a quite healthy woman, and although there is no actual family history of thrombotic disease or stroke, elements of my medical history--such as migraine, among other idiosyncracies--coupled with the discovery of a gene mutation in the paternal family line, led my primary care physician to give me a primer on the signs and symptoms of deep venous thrombosis and stroke. He also mentioned trials of blood thinners and diuretics. Frankly, I squirmed. I think I asked him if I could get by with washing down a baby aspirin with a glass of wine.

IN THIS ISSUE

As our cover story, we present a comprehensive article on locked-in syndrome (LIS), a relatively uncommon condition that most often occurs as a complication of brain stem stroke. It is only fairly recently that persons with LIS are being recognized as fully conscious and intellectually intact and not minimally conscious or vegetative. Strategies are being put in place to help these patients communicate and have improved quality of life. Indeed, patients with LIS who have learned to cope with their condition have written books and maintained Web sites despite the fact that their only means of communication might be the nuances within the wink of an eye.

We also present a comprehensive overview on how research in combination therapy is improving on tissue plasminogen activator therapy. We provide another Neurodiagnostic Challenge and begin our reportage of presentations from the 2006 annual meeting of the American Epilepsy Society.

REFERENCES1. Price DT, Ridker PM. Factor V Leiden mutation and the risks for thromboembolic disease: a clinical perspective. Ann Intern Med. 1997;127:895-903.
2. Ridker PM, Hennekens CH, Lindpaintner K, et al. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med. 1995;332: 912-917.
3. Zuber M, Toulon P, Marnet L, Mas JL. Factor V Leiden mutation in cerebral venous thrombosis. Stroke. 1996;27:1721-1723.
4. Martinelli I, Landi G, Merati G, et al. Factor V gene mutation is a risk factor for cerebral venous thrombosis. Thromb Haemost. 1996;75:393-394.