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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease).

OBJECTIVE: To identify the presence of vestibulo-ocular arreflexia in patients with Machado-Joseph disease ( MJD), which can easily be diagnosed at the bedside. METHODS: Seven patients with MJD from five unrelated families and 11 patients with sporadic or hereditary cerebellar ataxia other than MJD underwent a detailed neuro-otological and oculomotor examination. Six MJD and five non- MJD patients also underwent electro-oculographic recordings and caloric tests. RESULTS: Gaze evoked nystagmus, smooth pursuit, and saccade abnormalities were found in both MJD and non- MJD patients. However, in all seven MJD patients but in none of the non- MJD patients, sudden passively induced head thrust to both sides elicited pathological corrective catch-up saccades, indicating bilateral loss of the horizontal vestibulo-ocular reflex. This was further confirmed in six MJD patients who had absent vestibular response to both a standard caloric test and ice water ear irrigation. Nystagmus was induced by standard caloric irrigation in all non- MJD patients examined. There was no correlation between the loss of vestibular function and the severity of cerebellar impairment. CONCLUSIONS: The presence of vestibulo-ocular arreflexia, as measured by the head thrust test in a patient with dominant cerebellar ataxia, strongly suggests the diagnosis of MJD.[1]


  1. Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease). Gordon, C.R., Joffe, V., Vainstein, G., Gadoth, N. J. Neurol. Neurosurg. Psychiatr. (2003) [Pubmed]
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