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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 • 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. 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. Autopsy • An autopsy was performed and showed the following (describe midbrain section): Our case Normal control http://library.med.utah.edu/WebPa th/CNSHTML/CNS102.html Autopsy Our case Normal control Marked pallor of substantia nigra http://library.med.utah.edu/WebPa th/CNSHTML/CNS102.html This is a section from the midbrain. What do you see? Midbrain. (Click here for H&E) This is a section from the midbrain. What do you see? Midbrain. (Click here for H&E) 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 This is a section from the midbrain. What do you see? Midbrain. (Click here for H&E) Pigmented-laden macrophages Reactive gliosis Question: • The intracytoplasmic neuronal inclusions are known as … Answer • …Lewy bodies Question: • Which immunohistochemical stain highlights the Lewy bodies? Answer • A-synuclein – Click here to view stain Lewy bodies (a-synuclein) Question • What is the diagnosis? Answer • Parkinson’s disease Question • What is the most common cause of Parkinson’s disease? Answer • Most cases are sporadic of unknown etiology • Environmental factors such as toxic exposure, infection or lifestyle have been proposed Question • Are there any gene mutations linked to Parkinson's disease? 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 http://neurowiki2013.wdfiles.com/local-files/individual%3Agenetic-etiology-ofparkinson-s-disease/img2.JPG