Spinocerebellar ataxias (SCAs) are clinically heterogeneous forms of degenerative disorders with autosomal dominant pattern of inheritance. Among more than 40 forms of SCAs, each may have peculiar neurological constellation. Historically, the study of eye movements has played a fundamental role in the identification of various forms of neurological disorders, and utilizing the eye movements to differentiate various forms of SCAs remains most critical. In this chapter, our goal is to elucidate the eye movement abnormalities in autosomal-dominant spinocerebellar ataxias through a systematic review of the literature. Clinical, genetic, and neuropathological/neuroimaging aspects of the SCAs are also briefly discussed.
Rufa, A., Rosini, F. (2020). Eye Movements in Autosomal Dominant Spinocerebellar Ataxias. In F.G. A. Shaikh (a cura di), Advances in Translational Neuroscience of Eye Movement Disorders (pp. 415-449). Cham : Springer [10.1007/978-3-030-31407-1_21].
Eye Movements in Autosomal Dominant Spinocerebellar Ataxias
Rufa A.;
2020-01-01
Abstract
Spinocerebellar ataxias (SCAs) are clinically heterogeneous forms of degenerative disorders with autosomal dominant pattern of inheritance. Among more than 40 forms of SCAs, each may have peculiar neurological constellation. Historically, the study of eye movements has played a fundamental role in the identification of various forms of neurological disorders, and utilizing the eye movements to differentiate various forms of SCAs remains most critical. In this chapter, our goal is to elucidate the eye movement abnormalities in autosomal-dominant spinocerebellar ataxias through a systematic review of the literature. Clinical, genetic, and neuropathological/neuroimaging aspects of the SCAs are also briefly discussed.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
https://hdl.handle.net/11365/1302916
