References
Schols L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3(5):291–304. doi:10.1016/s1474-4422(04)00737-9
Leigh RJ, Zee DS (2015) The neurology of eye movements, vol 90. Oxford University Press, USA
Yabe I, Sasaki H, Takeichi N, Takei A, Hamada T, Fukushima K, Tashiro K (2003) Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6). J Neurol 250(4):440–443. doi:10.1007/s00415-003-1020-5
Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH (1997) Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 42(6):933–950. doi:10.1002/ana.410420616
Klockgether T (2010) Sporadic ataxia with adult onset: classification and diagnostic criteria. Lancet Neurol 9(1):94–104. doi:10.1016/s1474-4422(09)70305-9
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In the sitting position, spontaneous downbeat nystagmus (DBN) was observed during primary gaze. The amplitude of DBN increased during lateral gaze, and decreased during downgaze. Smooth pursuit was slightly saccadic in all directions, although saccade was normal. The horizontal vestibulo-ocular reflex was impaired. Cancellation of the vestibulo-ocular reflex was also impaired. Using a charge coupled device camera, spontaneous DBN was also observed in the left eye in the supine position. Limb ataxia was not observed. The patient was able to perform the closed leg standing position with her open eyes. However, her standing position was slightly unstable with her eyes closed. The patient showed a mild wide-based gait. (MP4 44624 kb)
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Ueno, T., Nishizawa, H., Suzuki, C. et al. Downbeat nystagmus as an initial clinical sign in spinocerebellar ataxia type 6. Neurol Sci 38, 1543–1545 (2017). https://doi.org/10.1007/s10072-017-2973-y
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DOI: https://doi.org/10.1007/s10072-017-2973-y