Normally Sharp, He Was Chronically Confused. What Was Going On?

C.J.D. is thought to be caused by prions, abnormal, destructive agents that damage the brain by triggering specific proteins to fold incorrectly. When this disease is caused by eating meat from an infected animal, it’s informally known as mad cow disease. The most common symptoms of C.J.D. are a rapidly progressive dementia and strange body movement — most commonly myoclonic jerks.

All of us have experienced myoclonic jerks. They usually occur as we are going to sleep; one part of the body — a leg, a shoulder, an arm — jerks suddenly, snatching us out of our near-sleep state. They rarely happen when we are awake. Frequent episodes of waking myoclonus can be caused by a disturbance of the brain or spinal cord from inflammation, infections or a toxic reaction to a drug. And they are very common in patients with C.J.D.

This combination of memory loss and myoclonic jerks suggested a diagnosis of C.J.D., but it was the result of a particular test that seemed to confirm it — a test of the spinal fluid for a substance known as the 14-3-3 protein. This biological chemical is released from neurons when these cells are damaged and can be detected in C.J.D. His test was positive. There is no cure for C.J.D., the neurologist reported — not even a treatment.

The siblings were devastated by the news — much more upset than the patient himself, who remained strangely indifferent to both the diagnosis and its terrible prognosis. His brothers and sisters now took turns staying with him. It was his eldest sister who was with him the night he had the strange shouting attack — a kind of seizure, she later learned. The E.M.T.s arrived within minutes of her call. She rode with him in the back of the ambulance to Yale New Haven Hospital.

Dr. Lawrence Hirsch was the attending neurologist on call that night. He was asleep when the resident phoned to tell him about the man with C.J.D. who was brought in after what sounded like a seizure. He seemed fine, the trainee reported; some deficits from the C.J.D. but nothing acute. Could they send him home? Seizures were not common in C.J.D. patients, Hirsch told the resident. They should keep him overnight and put him on continuous EEG monitoring.

The next morning when Hirsch and his team of residents arrived to examine the patient, he was awake, sitting up in bed. Suddenly, the right side of his face crinkled in a lopsided grimace. At the same time his right wrist flexed upward. Then both slowly relaxed. Hirsch kept watching. The patient did it a second time, the muscles of the face and arm moving simultaneously. These movements were too slow to be myoclonic jerks. It was a subtle, but revealing, distinction.

Hirsch immediately started the patient on a high dose of a steroid medication. This wasn’t C.J.D., he told the sister at the bedside. This was a kind of brain disorder known as autoimmune limbic encephalitis — and with steroids, he would recover. Hearing this, the sister wept. The patient asked, in his odd flat manner, “Does that mean I’m not going to die?”

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