Neurology, Neurologie, Ophthalmology, Ophtalmologie, Sciences biologiques et medicales, Biological and medical sciences, Sciences medicales, Medical sciences, Neurologie, Neurology, Système nerveux (sémiologie, syndromes), Nervous system (semeiology, syndromes), Fonctions encéphaliques supérieures. Syndromes encéphaliques topographiques. Syndrome vestibulaire et surdité d'origine centrale. Syndromes du tronc cérébral, Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes, Cervelet pathologie, Cerebellar disease, Cerebelar enfermedad, Encéphale pathologie, Cerebral disorder, Encéfalo patología, Maladie héréditaire, Genetic disease, Enfermedad hereditaria, Système nerveux central pathologie, Central nervous system disease, Sistema nervosio central patología, Système nerveux pathologie, Nervous system diseases, Sistema nervioso patología, Trouble neurologique, Neurological disorder, Trastorno neurológico, Vestibulaire syndrome, Vestibular syndrome, Vestibular síndrome, Ataxie, Ataxia, Caractère autosomique, Autosomal character, Carácter autosómico, Caractère dominant, Dominant character, Carácter dominante, Cervelet, Cerebellum, Cerebelo, Etude familiale, Family study, Estudio familiar, Exploration, Exploración, Homme, Human, Hombre, Mouvement oculaire, Eye movement, Movimiento ocular, Réflexe vestibulooculaire, Vestibuloocular reflex, Reflejo vestibuloocular, Vestibule, and Vestíbulo
The term vestibulocerebellar ataxia has been applied to a rare, autosomal dominant, late-onset disease with unusual ocular motility findings. We examined the ocular motility of 18 family members from two different kindreds and found 11 affected individuals. Both families in the present study, one of which was originally described by Farmer and Mustian, as well as the family reported by Farris et al., originated from Johnston County, North Carolina. We suspect that all three of these families have a common ancestral origin. The age of onset of the disorder was 31-60 years in the individuals examined. Ataxia, vertigo, diplopia, oscillopsia, and tinnitus were common complaints. Although a variety of eye movement abnormalities have previously been described in this disease, the most prominent and consistent findings in our patients were (a) abnormal smooth pursuits, (b) inability to suppress the vestibuloocular reflex (VOR), and (c) gaze-evoked nystagmus. These findings suggest that the cerebellar flocculus may be the primary site of pathology.