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. © 2020, Fondazione Società Italiana di Neurologia.

Rosini, F., Pretegiani, E., Battisti, C., Dotti, M.T., Federico, A., Rufa, A. (2020). Eye movement changes in autosomal dominant spinocerebellar ataxias. NEUROLOGICAL SCIENCES, 41(7), 1719-1734 [10.1007/s10072-020-04318-4].

Eye movement changes in autosomal dominant spinocerebellar ataxias

Rosini F.;Pretegiani E.;Battisti C.;Dotti M. T.;Federico A.;Rufa A.
2020-01-01

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. © 2020, Fondazione Società Italiana di Neurologia.
Rosini, F., Pretegiani, E., Battisti, C., Dotti, M.T., Federico, A., Rufa, A. (2020). Eye movement changes in autosomal dominant spinocerebellar ataxias. NEUROLOGICAL SCIENCES, 41(7), 1719-1734 [10.1007/s10072-020-04318-4].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/1128433