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.
References:  Rossi M, Perez-Lloret S, Doldan L, et al. Autosomal dominant cerebellar ataxias: A systematic review of clinical features. Eur J Neurol. 2014; 21(4):607–15.  Moscovich M, Okun MS, Favilla C, et al. Clinical Evaluation of Eye Movements in Spinocerebellar Ataxias. J Neuro-Ophthalmology. 2015; 35 (1):16–21.  Coutinho P. Doença de Machado-Joseph: Tentativa de Definição. Tese de Doutoramento. 1992.  T. Schmitz-Hü, S.T. Du Montcel, L. Baliko, et al., Scale for the assessment and rating of ataxia Development of a new clinical scale, Neurology. 2006; 66(11) 1717–1720.  Nascimento FA, Marques Garcia BC, Teive HAG. Teaching Video NeuroImages: Upward gaze palsy is a sign of spinocerebellar ataxia type 3. Neurology. 2018;91(5): e494.  Jacobi H, Hauser TK, Giunti P, et al, Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum. 2012 Mar;11(1):155-66.  Jardim LB, Hauser L, Kieling C, et al. Progression rate of neurological deficits in a 10-year cohort of SCA3 patients. Cerebellum. 2010; 9 (3): 419–28.  Schmitz-Hübsch T, Coudert M, Bauer P, et al. Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms. Neurology 2008; 71 (13): 982–9.  Jacobi H, Bauer P, Giunti P, et al. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study. Neurology. 2011; 77 (11): 1035–41.  Jardim LB, Pereira ML, Silveira I, et al. Neurologic Findings in Machado-Joseph Disease. Arch Neurol 2001; 58 (6):899.  Teive H, Munhoz R, Arruda W, et al. Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families. Clinics 2012; 67 (5):443–9.
To cite this abstract in AMA style:G. Franklin, F. Nascimento, A. Meira, C. Camargo, H. Teive. Upward Gaze Palsy in SCA3: a valuable semiological sign [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/upward-gaze-palsy-in-sca3-a-valuable-semiological-sign/. Accessed December 5, 2023.
« Back to MDS Virtual Congress 2020
MDS Abstracts - https://www.mdsabstracts.org/abstract/upward-gaze-palsy-in-sca3-a-valuable-semiological-sign/