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A 53-year-old male with clumsiness

A 53-year-old male with clumsiness. Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6. History. The patient was a 53 year male with a 10 year history of clumsiness

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A 53-year-old male with clumsiness

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  1. A 53-year-old male with clumsiness Leonidas Arvanitis, M.D. Neuropathology Fellow, PGY-6

  2. 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.

  3. 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.

  4. Autopsy • An autopsy was performed and showed the following (describe midbrain section): Our case Normal control http://library.med.utah.edu/WebPath/CNSHTML/CNS102.html

  5. Autopsy Our case Normal control Marked pallor of substantia nigra http://library.med.utah.edu/WebPath/CNSHTML/CNS102.html

  6. This is a section from the midbrain. What do you see? Midbrain. (Click here for H&E)

  7. This is a section from the midbrain. What do you see? Midbrain. (Click here for H&E)

  8. 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

  9. This is a section from the midbrain. What do you see? Midbrain. (Click here for H&E) Pigmented-laden macrophages Reactive gliosis

  10. Question: • The intracytoplasmic neuronal inclusions are known as …

  11. Answer • …Lewy bodies

  12. Question: • Which immunohistochemical stain highlights the Lewy bodies?

  13. Answer • A-synuclein • Click here to view stain

  14. Lewy bodies (a-synuclein)

  15. Question • What is the diagnosis?

  16. Answer • Parkinson’s disease

  17. Question • What is the most common cause of Parkinson’s disease?

  18. Answer • Most cases are sporadic of unknown etiology • Environmental factors such as toxic exposure, infection or lifestyle have been proposed

  19. Question • Are there any gene mutations linked to Parkinson's disease?

  20. 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

  21. http://neurowiki2013.wdfiles.com/local--files/individual%3Agenetic-etiology-of-parkinson-s-disease/img2.JPGhttp://neurowiki2013.wdfiles.com/local--files/individual%3Agenetic-etiology-of-parkinson-s-disease/img2.JPG

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