Spinocerebellar ataxia types 1, 2, 3 and 6: The clinical spectrum of ataxia and morphometric brainstem and cerebellar findings

Heike Jacobi, Till Karsten Hauser, Paola Giunti, Christoph Globas, Peter Bauer, Tanja Schmitz-Hübsch, László Baliko, Alessandro Filla, Caterina Mariotti, Maria Rakowicz, Perine Charles, Pascale Ribai, Sandra Szymanski, Jon Infante, Bart P.C. Van De Warrenburg, Alexandra Dürr, Dagmar Timmann, Sylvia Boesch, Roberto Fancellu, Rafal RolaChantal Depondt, Ludger Schöls, Elzbieta Zdzienicka, Jun Suk Kang, Susanne Ratzka, Berry Kremer, Dennis A. Stephenson, Béla Melegh, Massimo Pandolfo, Sophie Tezenas Du Montcel, Johannes Borkert, Jörg B. Schulz, Thomas Klockgether

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Abstract

To assess the clinical spectrum of ataxia and cerebellar oculomotor deficits in the most common spinocerebellar ataxias (SCAs), we analysed the baseline data of the EUROSCA natural history study, a multicentric cohort study of 526 patients with either spinocerebellar ataxia type 1, 2, 3 or 6. To quantify ataxia symptoms, we used the Scale for the Assessment and Rating of Ataxia (SARA). The presence of cerebellar oculomotor signs was assessed using the Inventory of Non-Ataxia Symptoms (INAS). In a subgroup of patients, in which magnetic resonance images (MRIs) were available, we correlated MRI morphometric measures with clinical signs on an exploratory basis. The SARA subscores posture and gait (items 1-3), speech (item 4) and the limb kinetic subscore (items 5-8) did not differ between the genotypes. The scores of SARA item 3 (sitting), 5 (finger chase) and 6 (nose-finger test) differed between the subtypes whereas the scores of the remaining items were not different. In SCA1, ataxia symptoms were correlated with brainstem atrophy and in SCA3 with both brainstem and cerebellar atrophy. Cerebellar oculomotor deficits were most frequent in SCA6 followed by SCA3, whereas these abnormalities were less frequent in SCA1 and SCA2. Our data suggest that vestibulocerebellar, spinocerebellar and pontocerebellar circuits in SCA1, SCA2, SCA3 and SCA6 are functionally impaired to almost the same degree, but at different anatomical levels. The seemingly low prevalence of cerebellar oculomotor deficits in SCA1 and SCA2 is most probably related to the defective saccadic system in these disorders.

Original languageEnglish
Pages (from-to)155-166
Number of pages12
JournalCerebellum
Volume11
Issue number1
DOIs
Publication statusPublished - Mar 1 2012

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Keywords

  • Ataxia
  • Brainstem
  • Cerebellum
  • Clinical scale
  • Magnetic resonance imaging (MRI)
  • Spinocerebellar ataxia (SCA)

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Jacobi, H., Hauser, T. K., Giunti, P., Globas, C., Bauer, P., Schmitz-Hübsch, T., Baliko, L., Filla, A., Mariotti, C., Rakowicz, M., Charles, P., Ribai, P., Szymanski, S., Infante, J., Van De Warrenburg, B. P. C., Dürr, A., Timmann, D., Boesch, S., Fancellu, R., ... Klockgether, T. (2012). Spinocerebellar ataxia types 1, 2, 3 and 6: The clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum, 11(1), 155-166. https://doi.org/10.1007/s12311-011-0292-z