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Creutzfeldt-Jakob Disease: Alzheimer's And Parkinson's Combined

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For Kip Laven of Minneapolis, Minn., warm memories of 17 years with his wife, Michelle, well up as quickly as the tears of loss.

"She always had a smile. Her laugh, her laugh was great. She was great. Really miss her," Laven says.

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In March 2011, 42-year-old Michelle experienced a sudden onset of stroke-like symptoms: difficulty speaking, confusion, and odd movements. All tests came back negative and she was sent home, but Michelle was still struggling.

"You know everything was not working. She’d put her shirts on backwards," Laven says.

Within a few days, Michelle was back in the hospital to stay. Stroke and meningitis were ruled out. Primary care doctors and specialists were stumped. And then, without the chance to ever say goodbye, his wife was gone.

"40 days, I think, it was from the beginning to the end. It was done," Laven says.

The diagnosis: Creutzfeldt-Jakob disease (CJD). There is no treatment, and it's always fatal. One form of the disease grabbed headlines during the mad cow scare. That form — variant CJD — was caused by eating tainted meat. But CJD occurs naturally in humans as well, though it is extremely rare.

"We call it a rapidly-dementing illness. That's something that affects cognitive skills, memory, thinking, behavior, and it comes on rapidly," says Mayo Clinic neurologist Allen Aksamit, MD. An abnormal infectious protein called a prion is believed to be the cause of CJD, creating holes in and around neurons in the brain.

"It co-ops the normal protein and then it becomes a self-replicating or self-amplifying process, which essentially kills neurons and gets transmitted to other neurons in the vicinity," Aksamit says.

Ninety percent of cases are sporadic, striking spontaneously without a known cause. The other 10 percent are familial, which was Michelle’s case. That means their sons Cody and Devin have a 50-50 chance of developing CJD — a possibility Laven finds very hard to bear.

"The normal person, if you knew you had it, you couldn’t get married, couldn’t have kids," Laven says.

Since CJD affects just 1 in a million people, research is slow to progress. Yet, that's Laven’s only hope of erasing the long shadow cast by a dreaded disease.

"Creutzfeldt-Jakob Disease: Alzheimer's and Parkinson's Combined" originally appeared on EverydayHealth.com.

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