Photomicrographs of last month's spinocerebellar ataxia type 6 case

A month ago, I posted gross photographs from an autopsy case of mine of a patient with spinocerebellar ataxia type 6. I am now following up with histologic images for this case. The most striking feature was the marked loss of Purkinje cells, which makes sense because SCA6 involves mutation of a calcium channel that is highly expressed on Purkinje neurons:

Many remaining Purkinje neurons demonstrated degenerative changes, including mis-shapened nuclei

Attenuated cerebellar granule cell layer

More Purkinje cells in bad shape

Cerebellar dentate neurons also dengenerated, but not as extensively as Purkinje cells

Mild involvement of inferior olives. Note the mis-shapen and darkened nuclei of neurons in this location.

Pons minimally effected, with only occasional degenerating neurons as seen in the center of this photomicrograph next to a normal neuron

The International Society for Frontotemporal Dementias has been founded

The following is an email sent out this week from Bernardino Ghetti, MD, neuropathologist at Indiana University:

Dear Friends,

Bernardino Ghetti, MD

In October 2010, I had the distinct privilege to host the 7^th International Conference on Frontotemporal Dementias in Indianapolis, Indiana.  Hundreds of you from around the world participated in this exciting meeting.

While the social relevance of frontotemporal dementia (FTD) is recognized, we have lacked a scientific international society devoted to the exchange of knowledge on FTD, facilitation of scientific cooperation, promotion of education, and planning of logistics and financial support.  As you may remember, the idea of organizing an international scientific society of FTD researchers was launched during the 7^th International Conference.  This concept obtained an enthusiastic response.

Since that time, many of you have been asking about the status of the society.  I am happy to announce that the legal documents have been filed and the International Society for Frontotemporal Dementias has been founded.  The current board of directors is composed of the following scientists:

Arne Brun MD, PhD                David Knopman MD

Emanuele Buratti PhD             Ian Mackenzie MD

Bernardino Ghetti MD             Marsel Mesulam MD

Murray Grossman MD             Bruce Miller MD

Lars Gustafson MD, PhD         Manuela Neumann MD

John Hodges MD, PhD            Rosa Rademakers PhD

Andrew Kertesz MD                Julie Snowden PhD

                                                                         John van Swieten MD

There is still work to be done, but the society is taking shape and we are currently looking for funding to support a website.  The society will facilitate scientific exchanges between researchers involved in all areas of clinical and basic neuroscience related to frontotemporal dementias and promote scientific discoveries.  As we prepare to open the society for membership, our hope is to reach all of you who have been an active part of the progress for the understanding of FTD and the care of people affected by this devastating disease. Our next step is to develop a website and facilitate the application for membership.  The membership fee will be $200.  Please let us know if you are interested in being a part of the International Society for Frontotemporal Dementias, or would also be interested in serving as part of a committee. 

I am truly convinced that this is a necessary step for the advancement of our knowledge of FTD.  I look forward to working with you in the future.

Regards,

Bernardino Ghetti, MD

For the Board of the International Society for Frontotemporal Dementias

The International Society for Frontotemporal Dementias can be reached at isftd.org@gmail.com

Best Post of October 2011: Treatable Neurologic Disorders Misdiagnosed as Creutzfeldt-Jakob Disease

The next in our "Best of the Month" series is from October 17, 2011:

A case of primary CNS angiitis thought to be sCJD

Dr. Mark Cohen and a team of workers at Case Medical Center in Cleveland, Ohio have published an important article in the Annals of Neurology entitled Treatable Neurological Disorders Misdiagnosed as Creutzfeldt-Jakob Disease (Ann Neurol 2011;70:437–444). Why is this article important? Well, because mistaking a survivable, treatable disorder for a fatal, non-treatable disorder is not optimal. Cohen's team reviewed the pathologic diagnoses of 1,106 patients who were referred for potential prion disease to the National Prion Disease Pathology Surveillance Center (NPDPSC) at Case Western Reserve University from 2006 to 2009. About one-third of the cases did not have prion disease, with Alzheimer disease and vascular disease being the most common conditions accounting for dementia. Further, about one-quarter of the non-prion cases had treatable diseases, including immune-mediated disorders, neoplastic disorders such as lymphoma, as well as infectious and metabolic disorders. The immune-mediated disorders included primary angiitis of the CNS, acute disseminated encephalomyelitis, limbic encephalitis, neurosarcoidosis, paraneoplastic cerebellar degeneration, and one case of Wegener granulomatosis. Of note, more than half of patients with a treatable dementia had a positive CSF 14-3-3 protein test, highlighting the danger of relying too heavily on this test in making a diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD). It turns out that the most specific test for distinguishing CJD from other diseases was magnetic resonance imaging. Drs. David Perry and Michael Geschwind, in a review of this study in the September 2011 issue of Nature Reviews Neurology, (Perry, D. C. & Geschwind, M. D. Nat. Rev. Neurol. 2011:7, 479–480) write: "The fact that many of the non-prion diagnoses in the present study were potentially treatable RPDs [rapidly progressive dementias] should prompt thorough diagnostic testing in patients who are suspected of having sCJD, in order to rule out mimics. The use of CSF testing, contrast-enhanced MRI, and autoimmune antibody screening is supported by this study."

Troy Aikman says he wouldn't be inclined to encourage a 10-year-old son to play football

"If I had a 10-year-old boy, I don't know that I'd be real inclined to encourage him to go play football in light of what we are learning from head injury [research]."  - Troy Aikman

Here's the two-minute interview.

Thanks to pathologist Doug Shevlin, MD (pictured below on left, with a man named "Cue') for sending me this link.

"Esterase Lamp" by Derek A. Mathis, MD

"ATPase 4.6 tile" by Derek A. Mathis, MD

Derek Mathis Week Begins Today

This week I'll be featuring the art photography of Derek A. Mathis, MD, a second-year neuropathology fellow at UT Southwestern Medical Center. Perhaps because he has an undergraduate degree in art, Mathis tends to look at the objects and phenomena around him from a different perspective. Throw a little neuropathology training into the mix, and you end up with a truly unique take on things. For example, here are some pictures Mathis took of cracks in a frozen pond. He calls them "Frozen pond astrocyte #1" and "Frozen pond astrocyte #2:

Stay tuned for more Mathis masterpieces later this week....