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Brainstem Pathology in Spasmodic Dysphonia
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Brainstem Pathology in Spasmodic Dysphonia
Kristina Simonyan, M.D., Ph.D., Christy L. Ludlow, Ph.D., Alexander O. Vortmeyer, M.D.
Published in Laryngoscope (2009): Sept 30
Abstract: Spasmodic dysphonia (SD) is a primary focal dystonia of unknown pathophysiology, characterized by involuntary spasms in the laryngeal muscles during speech production. We examined two rare cases of postmortem brainstem tissue from SD patients compared to four controls. In the SD patients, small clusters of inflammation were found in the reticular formation surrounding solitary tract, spinal trigeminal, and ambigual nuclei, inferior olive, and pyramids. Mild neuronal degeneration and depigmentation were observed in the substantia nigra and locus coeruleus. No abnormal protein accumulations and no demyelination or axonal degeneration were found. These neuropathological findings may provide insights into the pathophysiology of SD.
Lay summary: Patients with spasmodic dysphonia (SD) have a neurological condition, which results in voice breaks during speech production. The cause of the neurological condition is unknown. This study of brain tissue was possible thanks to the generous donations of their brains after their death by two of our former patients with adductor SD. We examined the lower part of the brain, called the brainstem, in these two patients and compared the results to the brainstems of four persons who did not have SD or other neurological conditions. We found that the brains of patients with SD had small accumulations of inflammatory cells in the regions of the brainstem that control laryngeal behaviors. We also found a mild loss of neurons in the region called the substantia nigra, which is important for movement control. These findings show that some abnormal processes were ongoing in the brainstem of these two SD patients that may have affected their voice production. This study is just another small but important step in understanding SD; more research is needed before findings such as these will be able to identify the cause of SD.
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