Objective: Evaluate the prevalence of upward gaze palsy (UGP) and investigate its useful in assisting the clinical differentiation of SCAs.

Background: Spinocerebellar ataxias (SCAs) represent a large group of heredodegenerative diseases, with great phenotypic and genotypic heterogeneity. However, in the clinical neurological practice, some symptoms or signs might help differentiate the SCAs.

Method: We evaluated 419 patients with SCAs (248 with SCA3, 95 with SCA10, 38 with SCA2, 22 with SCA1, 12 with SCA7 and 4 with SCA6). This study compared UGP with other known markers of disease severity – age of onset, disease duration, SARA score, and size of CAG expansion.

Results: UGP was significantly more prevalent in SCA3 compared to other SCAs. UGP was significantly correlated with larger CAG expansions, age and disease duration in SCA3 patients, but not with age of onset or severity of the ataxic syndrome.

Conclusion: UGP is a typical characteristic of SCA3 and it could be of great value for bedside differential diagnosis among SCAs.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/upward-gaze-palsy-in-sca3-a-valuable-semiological-sign/