RESUMO
INTRODUCTION: Olfactory dysfunction has been established as a frequent non-motor symptom in neurodegenerative and movement disorders such as Parkinson's disease, Alzheimer's disease, and hereditary ataxias. To expand knowledge of non-motor symptoms in dystonia, and to test for a potential endophenotype, we examined olfactory function in cervical dystonia (CD). METHODS: In patients with CD, and neurologically healthy controls, olfactory function was examined by "Sniffin' Sticks", a test of nasal chemosensory function based on pen-like odor dispensing devices. This test enables to define an individual's odor threshold, odor discrimination, and odor identification. Owing to the etiological heterogeneity of olfactory dysfunction, strict exclusion criteria were applied, especially smoking, and sinonasal disease. RESULTS: 58 CD patients completed the study. Olfactory dysfunction was present in 29 patients (50.0%), significantly more frequent than in two groups of matched healthy control subjects (20.7%; 22.4%; pâ¯=â¯0.001). Analysis of the pattern of hyposmia revealed that odor threshold (pâ¯=â¯0.002), and odor identification (pâ¯<â¯0.001) were significantly worse in CD patients compared to controls, while odor discrimination was unchanged. Higher age was the only clinical characteristic to correlate with olfactory dysfunction in CD. CONCLUSIONS: Our observations establish olfactory dysfunction, possibly of both peripheral and central origin, as a new non-motor, and probably motor-unrelated, symptom of CD. Additionally, the potential involvement of cerebellar functions in olfactory identification and discrimination tasks, as well as in pathophysiology of dystonia, justifies further studies of olfactory dysfunction as a possible endophenotype in dystonia.
