Upward Gaze Palsy: a Valuable Sign to Distinguish Spinocerebellar Ataxias
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ORIGINAL ARTICLE
Upward Gaze Palsy: a Valuable Sign to Distinguish Spinocerebellar Ataxias Gustavo L. Franklin 1
&
Alex T. Meira 1 & Carlos H. F. Camargo 1 & Fábio A. Nascimento 2 & Hélio A. G. Teive 1
# Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Spinocerebellar ataxias (SCAs) represent a large group of heredodegenerative diseases, with great phenotypic and genotypic heterogeneity. However, in the clinical neurological practice, some symptoms and signs might help differentiate the SCAs. This study’s aims were to evaluate the frequency of upward gaze palsy (UGP) and investigate its role in assisting in the clinical differentiation of SCAs. We included 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, and also other semiologic features, as bulging eyes. This sign was significantly more prevalent in SCA3 (64.11%), compared with SCA10 (3.16%; p < 0.001) and other SCAs (SCA1, SCA2, SCA7–11.84%; p < 0.001). UGP showed very high sensibility ins SCA3 (92.9), although lacking of specificity (64.1%). The odds ratio (OR) of UGP were also very high, 23.52 (95% CI 12.38–44.69), and 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. This study showed that UGP is highly suggestive of SCA3 and has high sensitivity for the differential diagnosis among SCAs, and it could be of great value for bedside semiologic tool. Keywords Cerebellar ataxia . Ophthalmoplegia . Ocular motility disorders . Upward gaze palsy
Introduction Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of autosomal dominant cerebellar degenerative diseases. Currently, more than 40 types of SCAs have been described, with more than 30 loci identified, which were named according to the chronology of their description [1–4]. Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD), the most common spinocerebellar ataxia, is Highlights • The presence of upward gaze palsy (UGP) is statistically higher in SCA3 patients. • UGP is characteristic of SCA3 and of great value to distinguish from others spinocerebellar ataxias • “Coutinho’s sign” should be used to describe the UGP in SCA3 patients. * Gustavo L. Franklin [email protected] 1
Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil
2
Department of Neurology, Baylor College of Medicine, Houston, TX, USA
caused by mutations in the ATXN3 gene. The CAG repeat is expanded in this gene, usually to greater than 60 repeats, in affected individuals [4]. SCA3 is associated with a myriad of symptoms including cerebellar ataxia, pyramidal, peripheral neuropathy, movement disorders, and oculomotor findings. The latter comprise horizontal and vertical ophthalmoplegia, nystagmus (both h
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