Best Post of February 2011 -- Finally, an alternative to 14-3-3 protein in the diagnosis of CJD!

The next in our "Best of the Month" series is from February 2, 2011:

prion protein

Researchers report in an article in Nature Medicine that a new cerebrospinal fluid test, known as real-time quaking-induced conversion (RT-QUIC) assay, appears to be more specific than the problematic 14-3-3 test, which not infrequently gives false-positive results. ('Quaking-induced' refers to in vitro shaking, which helps to accelerate the reaction.) Not only that: it looks as though RT-QUIC may work on serum samples too, opening up the possibility of much earlier diagnosis and more widespread screening of donated blood. This development could truly revolutionize the pre-mortem diagnosis of prion disease! (Thanks to Dr. Doug Shevlin for calling my attention to this article.)

Genetics of PSP further elucidated

Actor Dudley Moore died in 2002 with PSP

About 20,000 people in the United States are currently diagnosed with Progressive Supranuclear Palsy (PSP). A variant in the MAPT gene, has been repeatedly linked to the disease. Researchers led by Gunter Höglinger of Philipps-Universitat in Germany studied more than 2,000 individuals of European descent diagnosed with PSP, comparing their DNA to that of nearly 7,000 healthy European individuals. The results were published last month in the journal Nature Genetics. The study reported several single nucleotide polymorphisms (SNPs) associated with the disease. One of the SNPs reported by Höglinger’s team is located in MAPT and is closely linked to the already well-established variant for PSP risk. In this study, each copy of the G version of rs8070723 in MAPT was associated with about 5.5 times lower odds of the disease. (Source: spittoon.23andme.com)

Formal Guidelines for Alzheimer's Genetic Testing Issued

Dr. Edward B. Lee

In recent posts, I discussed the availability of direct-to-consumer ApoE testing and the fact that I myself submitted buccal cells to 23andMe.com to discover my own ApoE status. The illustrious Eddie Lee, MD, PhD just emailed me news that the American College of Medical Genetics and the National Society of Genetic Counselors have recently issued formal guidelines regarding ApoE testing in patients. Reported and discussed on the Alzheimer Research Forum, the guidelines, published in the June issue of Genetics in Medicine, identify which individuals may benefit from genetic testing.

Time Magazine On-Line Article: NFL Players May Be More Vulnerable to Alzheimer's Disease

This article, which recently appeared in Time Magazine's on-line Healthland, reports on research recently presented at the Alzheimer's Association International Conference in Paris. Retired NFL players are more likely to develop mild cognitive impairment (MCI) than similarly aged men who didn't play football. 

According to the Greeks, the term "camptocormia" is being misused!

Arkady Melikyan, MD

Dr. Arkady Melikyan, a neurology resident currently rotating on my neuropathology service, informed me today of a word in the neurological lexicon that I had not heard of before: camptocormia. Dr. Melikyan credits attending neurologist Rodger Elble, MD, PhD for enlightening him with regard to this term. Camptocormia, according to Adams and Victor's Principles of Neurology (9th edition, page 117), is "a severe forward bending of the trunk at the waist that is symptomatic of either a dystonia, Parkinson disease, or one of several muscle diseases that focally weaken the extensors of the spine." This condition causes "the patient to walk while looking at the ground beneath the feet, but rarely causes falling". Look at this 17-second video on YouTube demonstrating the condition. Camptocormia is derived from the Greek words campto (meaning to bend forward actively) and cormos (meaning body or trunk). In an article entitled Camptocormia or cormoptosis? The etymology of the word [Ann Rheum Dis. 1996 November; 55(11): 858], Greek authors (and they ought to know!) Drs. Dimitrios Karras, John Vassilakos, and Dimitrios Kassimos have proposed the word cormoptosis instead for this condition (with ptosis meaning passive movement downward). They recommend that the term "camptocormia" be reserved only for patients whose stoop is psychogenic in origin.

Dr. Jean-Paul Vonsattel is on YouTube

Jean-Paul Vonsattell, MD

Dr. Jean-Paul Vonsattel gives viewers a lightening-flash tour through his Brain Bank at Columbia University's Taub Institute for Research on Alzheimer's Disease and the Aging Brain. The video on YouTube covers a lot of ground in 4 minutes and 40 seconds. Very impressive facility!

Dr. Mike Lawlor provides jobs update from last week's AANP annual meeting

Today I feature a guest post from the esteemed Dr. Mike Lawlor regarding the job fair held at last week's annual meeting of the American Association of Neuropathologists (AANP):

Michael W. Lawlor, MD, PhD

As many of you know, this year’s AANP meeting in Seattle included a job fair, and I’d like to extend my gratitude once again to Arie Perry, Steve Moore, and Brian Moore for their efforts in organizing the event.  As an attendee of this job fair, I’ve compiled some very brief descriptions of the jobs that were described there, which are shown below.  In addition, several institutions that could not attend sent me brief summaries of their positions, which I have also synopsized below.  Overall, it seemed like the job fair went very well, and I’d like to thank the representatives of these hiring institutions for their involvement in the event.  Good luck to the applicants and potential employers alike.

The following institutions (in alphabetical order) either presented or sent emails about the job fair and described the following positions and areas of interest.  Even if your area of interest differs from that described, I’d encourage you to contact these institutions, since many of them expressed a willingness to be flexible on a number of things.

Case Western:  Their job search is still open, and they are interested in a research-oriented neuropathologist.  The amount of clinical work can be very flexible, and a person could be 100% research if they wanted.  They are very well set up for a person interested in tumors, but would be flexible in terms of research interest.

Johns Hopkins:  Their job search is still open, and they are interested in a research-oriented neuropathologist (~75%) who is interested in neurodegeneration.  The point was also made that you must also be a nice person, so keep that in mind…

Ohio State:  Their job search is still open, and they are interested in a research-oriented neuropathologist (~75%), with no specific field of interest specified.  It sounded as if they might be flexible on a number of issues.

Texas Children’s Hospital:  Their job search is still open, and they are interested in a research-oriented neuropathologist with an interest in pediatric disease.  Specifically, an interest in development would be ideal.

UC Davis: Their job search is still open, and the primary round of applications was reviewed on June 30^th. 

UCSF:  Their job search is still open, and they are interested in a research-oriented neuropathologist (~75% research) who is interested in neurodegeneration.

UW Madison: Announced an opening for a research oriented neuropathologist with an interest in neurodegeneration.  They will formally announce the position and details soon.

Virginia Mason Medical Center: Their job search is still open, and they are looking for a clinically oriented neuropathologist who would like to sign out neuropath and surgical path.  It sounds as if the majority of their volume is general surgical path, but that they would really like to get a neuropathologist for the neuro cases that come through the service.

Thank you, Mike, for your hard work on organizing this jobs fair. By the way, Dr. Lawlor himself has been successful in his recent job search, landing a staff position at Children's Hospital of Wisconsin starting in September. He is currently finishing up a research fellowship at Children's Hospital Boston.