Dr. Hackie Reitman interviews Dr. Marcia Ratner about the other CTE: Chronic Toxic Encephalopathy5/28/2020 Parkinsonism with dystonia due to brain manganese accumulation resulting from an SLC30A10 mutation2/11/2019 This video from Stamelou and colleagues (2012) which appears in the journal Movement Disorders shows the clinical features associated with manganese accumulation in the brain due to a mutation of the gene encoding for SLC30A10 (Solute Carrier Family 30, Member 10 gene, encoding a manganese transporter). Mutation of this gene is associated with very early onset familial forms of parkinsonism which should not be confused with idiopathic Parkinson's disease.The parkinsonian signs and symptoms associated with this mutation are similar to those seen in patients with a history of occupational exposure to manganese.
Note: This video is being posted here for educational purposes only and it is not intended to diagnosis or treat any disease. This material is being shared here with proper citation of the authors in accordance with the Creative Commons Deed. Link to PubMed citation
This is a very interesting video from Thailand showing characteristic cock walk and other symptoms associated with manganese poisoning. Note the fast stepping gait akin to how a chicken runs. This parkinsonian gait can be contrasted with that shuffling gait seen in patients presenting with idiopathic Parkinson's disease. Perhaps one of the most well-studied and important cases on the relationship between neurotoxic chemical exposures and neurodegenerative disease is the "Case of the Frozen Addicts" report by Dr. William Langston. In this case, a form of synthetic heroin which contained the compound MPTP was found to be the culprit. More importantly, the parkinsonism induced by exposure to MPTP could be treated with the same medications used to treat idiopathic Parkinson's disease, indicating the that the two forms of parkinsonism shared a common neuropathology.
WGBH has a very nice documentary about this story which can be found in their archives here. |
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Updated September 16, 2024
Updated September 16, 2024