Upward Gaze Palsy: a Valuable Sign to Distinguish Spinocerebellar Ataxias

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 upw...

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Bibliographic Details
Published in:Cerebellum (London, England) England), 2020-10, Vol.19 (5), p.685-690
Main Authors: Franklin, Gustavo L., Meira, Alex T., Camargo, Carlos H. F., Nascimento, Fábio A., Teive, Hélio A. G.
Format: Article
Language:English
Subjects:
Age
Ataxin
Biomedical and Life Sciences
Biomedicine
Differential diagnosis
Disease
Neurobiology
Neurology
Neurosciences
Original Article
Paralysis
Polyglutamine
Spinocerebellar ataxia
Trinucleotide repeats
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Summary: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  
ISSN:1473-4222
1473-4230
DOI:10.1007/s12311-020-01154-2