Eye movement changes in autosomal dominant spinocerebellar ataxias
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REVIEW ARTICLE
Eye movement changes in autosomal dominant spinocerebellar ataxias Francesca Rosini 1 & Elena Pretegiani 1 & Carla Battisti 2 & Maria Teresa Dotti 2 & Antonio Federico 2 & Alessandra Rufa 1,2 Received: 21 September 2019 / Accepted: 24 February 2020 # Fondazione Società Italiana di Neurologia 2020
Abstract Oculomotor abnormalities are common findings in spinocerebellar ataxias (SCAs), a clinically heterogeneous group of neurodegenerative disorders with an autosomal dominant pattern of inheritance. Usually, cerebellar impairment accounts for most of the eye movement changes encountered; as the disease progresses, the involvement of extracerebellar structures typically seen in later stages may modify the oculomotor progression. However, ocular movement changes are rarely specific. In this regard, some important exceptions include the prominent slowing of horizontal eye movements in SCA2 and, to a lesser extent, in SCA3, SCA4, and SCA28, or the executive deficit in SCA2 and SCA17. Here, we report the eye movement abnormalities and neurological pictures of SCAs through a review of the literature. Genetic and neuropathological/neuroimaging aspects are also briefly discussed. Overall, the findings reported indicate that oculomotor analysis could be of help in differential diagnosis among SCAs and contribute to clarify the role of brain structures, particularly the cerebellum, in oculomotor control. Keywords Spinocerebellar ataxia . Oculomotor abnormalities . Cerebellar function . Fixation abnormalities . Saccades
Abbreviations SWJs Square wave jerks intrusions SWOs Square wave oscillations
GEN PAN VOR
Gaze-evoked nystagmus Periodic alternating nystagmus Vestibulo-ocular reflex
Highlights • SCAs are a clinically heterogeneous group of neurodegenerative disorders, with an autosomal dominant pattern of inheritance. • Clinical findings include late-onset presentation, slowly progressive cerebellar syndrome, and possible concomitance of pigmentary retinopathy, extrapyramidal and various movement disorders, pyramidal signs, cortical symptoms, and peripheral neuropathy. • Among SCAs, oculomotor abnormalities are very common, though not specific. • Usually, oculomotor abnormalities are related to cerebellar impairment and include dysmetric saccades, disruption of pursuit, various types of nystagmus and saccadic intrusions, and VOR anomalies. • Prominent slowing of ocular movements is typical of SCA2 and related to the impairment of excitatory burst neurons in PPRF; to a lesser extent, it can be encountered in SCA3, SCA4, SCA28, and, very rarely, in SCA5, SCA7, and SCA8. • Executive deficit in antisaccades and memory-guided task saccades (increased errors, low correction rate) is typical of SCA2 and SCA17. * Alessandra Rufa [email protected] 1
Department of Medicine Surgery and Neuroscience, Eye Tracking& Visual Application Lab EVALAB, Neurology and Neurometabolic Unit, University of Siena, Viale Bracci 2, 53100 Siena, Italy
2
Department of Medicine, Surgery and Neuroscience, Neurology and Neurometabolic Unit,
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