Familial cerebellar ataxia presenting with down beat nystagmus.

Abstract

The proband (1112) first attended the National Hospital, Queen Square at the age of 42, complaining of 5 years' intermittent difficulty in focusing. Occasional vertical oscillopsia and transient diplopia had occurred over the same period, and an optician had detected nystagmus. His brother, 7 years younger, has a similar disorder. The pedigree is illustrated in the figure. The brothers' unaffected parents, who were unrelated, died in their seventies. Received for publication 22 June 1979 Examination at this time was unremarkable except for the finding of second degree down beat nystagmus, which increased in velocity on gaze to the left and right; the nystagmus was unaltered on changes of posture. Eye movements were full but, while voluntary saccadic movements were normal, following movements were markedly broken up by the nystagmus. Optokinetic responses were present on rotation of the drum to the left and right, producing nystagmus in an oblique, downward direction which was attributable to the superimposed down beat vertical nystagmus. No optokinetic nystagmus was produced in the vertical direction. Electronystagmography confirmed spontaneous down beat vertical nystagmus, vestibular in character, which was inhibited by eye closure and darkness, and was consistent with a central disturbance of the vestibular system or its connections.' Caloric responses were absent. The pure tone audiogram was normal.Six years later at the age of 48 he was admitted for assessment of a 4-year history of progressive imbalance of gait. His walking had become unsteady, particularly on turning, and for 2 years he had noticed slight slurring of speech and dificulty in swallowing. He managed a clerical job and was able to use public transport without difficulty.On examination his slight slurring dysarthria was confirmed. His gait was ataxic, he walked with a wide base, and had difficulty in turning without losing balance. Tongue movements were slightly slow. The tendon reflexes were unusually brisk but there were no pathological reflexes. Nystagmus, similar to that noted earlier, was again found; pursuit eye movements were found to be grossly broken up by nystagmus though voluntary movements were normal. Ocular dysmetria was detected on occasions. Neither intellectual deficit nor 115 on 4 April 2019 by guest. Protected by copyright.

Sinais e Sintomas Vestibulares e Doenças do Sistema Nervoso Central

“…As ataxias cerebelares familiares são processos degenerativos espinocerebelares que provocam ataxia e incoordenação de movimentos 34,35 . Também são descritos paresia do olhar vertical, disartria, dismetria, tremor de intenção, apraxia do n. oculomotor e perda auditiva, principalmente na ataxia de Friedrich 36 .…”

Neuro-Ophthalmologic Findings in Vestibulocerebellar Ataxia

“…A subsequent attack of vertigo and dip¬ lopia on Sept 11,1985, rendered the patient unable to drive. Five days later, her neurol¬ ogist documented ataxia with coarse rota¬ tory and upbeating nystagmus.…”