a 53-year-old male with clumsiness leonidas arvanitis, m.d. neuropathology fellow, pgy-6
TRANSCRIPT
![Page 1: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/1.jpg)
A 53-year-old male with clumsiness
Leonidas Arvanitis, M.D.
Neuropathology Fellow, PGY-6
![Page 2: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/2.jpg)
History• The patient was a 53 year male with a 10 year
history of clumsiness• He initially presented with deterioration of his
singing voice, clumsiness of his left hand, incoordination and spastic reflexes.
• The patient had no history of drug abuse or environmental exposure.
• An MRI of the brain was normal, but a cervical MRI revealed a small syrinx below C6-7.
![Page 3: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/3.jpg)
History• His symptoms progressed, notable for masked
facies, increased muscle upper extremity muscle tone, and poor gait and arm.
• One year before death the patient was also noted to have dementia, the latter manifesting in cognitive difficulty, paranoia, and delusions, but improving with medications.
![Page 4: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/4.jpg)
Autopsy• An autopsy was performed and showed
the following (describe midbrain section):
http://library.med.utah.edu/WebPath/CNSHTML/CNS102.html
Our case Normal control
![Page 5: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/5.jpg)
Autopsy
http://library.med.utah.edu/WebPath/CNSHTML/CNS102.html
Our case Normal control
Marked pallor of substantia nigra
![Page 6: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/6.jpg)
This is a section from the midbrain. What do you see?
Midbrain. (Click here for H&E)
![Page 7: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/7.jpg)
This is a section from the midbrain. What do you see?Midbrain. (Click here for H&E)
![Page 8: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/8.jpg)
This is a section from the midbrain. What do you see?Midbrain. (Click here for H&E)
Eosinophilic cytoplasmic inclusions
Decreased numbers of pigmented neurons
![Page 9: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/9.jpg)
This is a section from the midbrain. What do you see?Midbrain. (Click here for H&E)
Pigmented-laden macrophages
Reactive gliosis
![Page 10: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/10.jpg)
Question:
• The intracytoplasmic neuronal inclusions are known as …
![Page 11: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/11.jpg)
Answer
• …Lewy bodies
![Page 12: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/12.jpg)
Question:
• Which immunohistochemical stain highlights the Lewy bodies?
![Page 13: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/13.jpg)
Answer
• A-synuclein– Click here to view stain
![Page 14: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/14.jpg)
Lewy bodies (a-synuclein)
![Page 15: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/15.jpg)
Question
• What is the diagnosis?
![Page 16: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/16.jpg)
Answer
• Parkinson’s disease
![Page 17: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/17.jpg)
Question
• What is the most common cause of Parkinson’s disease?
![Page 18: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/18.jpg)
Answer
• Most cases are sporadic of unknown etiology
• Environmental factors such as toxic exposure, infection or lifestyle have been proposed
![Page 19: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/19.jpg)
Question
• Are there any gene mutations linked to Parkinson's disease?
![Page 20: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/20.jpg)
Answer
• Yes. Autosomal dominant and recessive mutations– Autosomal dominant include PARK1 point
mutation in a-synuclein gene and PARK5 point mutation in ubiquitin carboxyterminal hydrolase-L1 (UCH-L1)
– Autosomal recessive include PARK2 mutation in the parkin gene
![Page 21: A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6](https://reader034.vdocuments.us/reader034/viewer/2022051316/5697bff31a28abf838cbc3e6/html5/thumbnails/21.jpg)
http://neurowiki2013.wdfiles.com/local--files/individual%3Agenetic-etiology-of-parkinson-s-disease/img2.JPG