Diagnostic and Prognostic Value of Human Prion Detection in Cerebrospinal Fluid

A report appearing in the current issue of Annals of Neurology (2017;81:79-92) titled "Diagnostic and Prognostic Value of Human Prion Detection in Cerebrospinal Fluid" investigates the second-generation real-time quaking-induced conversion (RT-QuIC) prion test in a broad spectrum of prion diseases. The study concludes as follows: "The diagnostic performance of the improved CSF RT-QuIC is superior to surrogate marker tests for prion diseases such as 14-3-3 and tau proteins, and together with PRNP gene sequencing the test allows the major prion subtypes to be differentiated in vivo. This differentiation facilitates prediction of the clinicopathological phenotype and duration of the disease—two important considerations for envisioned therapeutic interventions." Among the authors are Aaron Foutz (first author), Mark Cohen, and Jiri Safar (senior author).

FDA approves first drug for spinal muscular atrophy

The U.S. Food and Drug Administration recently approved Spinraza (nusinersen), the first drug approved to treat children and adults with spinal muscular atrophy (SMA). The FDA granted this application fast track designation and priority review. The drug also received orphan drug designation, which provides incentives to assist and encourage the development of drugs for rare diseases.

Thanks to Dr. Nick Willard for alerting me to this development.

Corneal ulceration secondary to Candidal keratitis

GMS stain highlights fungal forms in the corneal stroma

Nice Example of STAT6 nuclear positivity in a WHO grade III Solitary Fibrous Tumor/Hemangiopericytoma

STAT6 immunostaining shows strong nuclear positivity among tumor cells, while the cytoplasm is uniformly negative.  STAT6 nuclear immunoreactivity has been reported as a surrogate marker for the NAB2-STAT6 gene fusion, which is the defining driver mutation of solitary fibrous tumor/hemangiopericytoma. 

Bo Jackson says he won't let his kids play football

Bo Jackson in 2004

The implications of the description of Chronic Traumatic Encephalopathy continue to reverberate as yet another former professional football player states that he will not let his children play football. The Kansas City Star reported yesterday that former Heisman Trophy winner and Oakland Raider star running back Bo Jackson said he would not play football if he were growing up today and will not let his children play the sport.

“If I knew back then what I know now. I would have never played football. Never. I wish I had known about all of those head injuries, but no one knew that. And the people that did know that, they wouldn’t tell anybody,” Jackson said in an interview. He went on to say that he has encouraged his children to play "anything but football". 

The NFL admitted in 2016 — after much hand-wringing and many denials and delays — that there is a link between football and CTE.

As a father of a 9-year-old boy myself, I communicated the same thing to my own son. 

(Thanks to Dr. Doug Shevlin for alerting me to this development.)

Neuroscience Online, the Open-Access Neuroscience Electronic Textbook

This online, interactive courseware for the study of neuroscience is worth bookmarking. It's provided by McGovern Medical School at UTHealth in Houston. The project is under the direction of Neurobiology and Anatomy Chair John H. Byrne, PhD.

John H. Byrne, PhD.

Neuropathology History: Désiré Magloire Bourneville (1840-1909)

Désiré Magloire Bourneville (1840-1909)

Born in Garenciéres, France. From 1905 until his death, Bourneville headed the Foundation Vallée for the Study of Feebleminded Children.  "Was recognized as the leading continental authority on all aspects of mental abnormality of children. Most of his neuropathologic work was on idiocy. His description of tuberous sclerosis, since known as Bourneville's disease, appeared in 1880."

Source: Haymaker, Webb (Army Institute of Pathology). Guide to the exhibit on the history of neuropathology. Presented at the annual meetings of the American Psychiatric Association (Washington, DC, May 17-20, 1948) and the American Neurological Association (Atlantic City, June 14-17, 1948).

Neuropathology History: Sir Edward Farquhar Buzzard (1871-1945)

"Born in London... Became Regius Professor of Medicine at Oxford University, and consulting physician at St. Thomas's Hospital (1928). In the field of neuropathology, he is well known for his textbook in collaboration with Greenfield (1921)... Important also were his studies on myasthenia gravis (to which he contributed the term 'lymphorrhages') (1905), chronic progressive cerebral softening (1906),... delayed traumatic apoplexy (1909), and epidemic encephalitis (1919)."

Sir Edward Farquhar Buzzard (1871-1945)

Source: Haymaker, Webb (Army Institute of Pathology). Guide to the exhibit on the history of neuropathology. Presented at the annual meetings of the American Psychiatric Association (Washington, DC, May 17-20, 1948) and the American Neurological Association (Atlantic City, June 14-17, 1948).

Neuropathology History: Carl Wernicke (1848-1905)

"Born in Tarnowitz, Poland... A highly original thinker, he can be said to have been a pupil only of Meynert, though he was greatly influenced by the works of Hitzig and Munk."

Carl Wernicke (1848-1905)

Source: Haymaker, Webb (Army Institute of Pathology). Guide to the exhibit on the history of neuropathology. Presented at the annual meetings of the American Psychiatric Association (Washington, DC, May 17-20, 1948) and the American Neurological Association (Atlantic City, June 14-17, 1948).

Addendum: Comment from Dr. Darren Groh from Rhode Island Hospital: "Technically, Carl Wernicke was not born in Poland. He was born in the Kingdom of Prussia, which was part of Germany during his lifetime. This area is now part of Poland, however. I appreciate the history articles."

Guest Post: Fibrous Bodies Nicely Demonstrated in a Smear from a Somatotroph Pituitary Adenoma

Christian Davidson, MD

Dr. Christian Davidson, director of neuropathology at the Robert Wood Johnson University Hospital in New Jersey, provides today's blog post:

A 30-year-old man presented with bitemporal hemianopsia and a 3.0 cm pituitary mass was discovered upon MRI. His IGF-1 was elevated to 900, but he had no signs of acromegaly. A smear of tissue sent for frozen section evaluation (see below) revealed that most cells had round, eosinophilic, perinuclear inclusions suggestive of fibrous bodies (some examples are circled). Dot-like CAM5.2 immunostain (not shown) confirmed my smear-based diagnostic suspicion.

Pineal Parenchymal Tumor of Intermediate Differentiation, WHO grade III

"A tumor of the pineal gland that is intermediate in malignancy between pineocytoma and pineoblastoma and is composed of diffuse sheets or large lobules of monomorphic round cells that appear more differentiated than those observed in pineoblastoma." -- WHO Book (2016)

The particular example depicted above recurred with leptomeningeal spread.