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Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)

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Abstract

SCA36 is an autosomal dominant spinocerebellar ataxia (SCA) affecting many families from Costa da Morte, a northwestern region of Spain. It is caused by an intronic GGCCTG repeat expansion in NOP56. In order to characterize the cognitive and affective manifestations of this cerebellar disease, a group of 30 SCA36 mutation carriers (11 preataxic and 19 ataxic patients) were assessed with a comprehensive battery of standardized tests. Phonological verbal fluency – but not semantic fluency – was already mildly impaired in preataxic subjects. In ataxic patients, both phonological and semantic fluencies were significantly below normal. Depression, while more frequent and prominent in ataxic patients, was also often present in the preataxic stage. This is the first systematic study supporting the presence of a mild cerebellar cognitive and affective syndrome in SCA36. Routine evaluation of cognitive and emotional spheres in SCA36 patients as well as asymptomatic mutation carriers should allow early detection and timely therapeutic intervention.

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Acknowledgments

The authors would like to thank Dr. Schmahmann for his critical reading of this manuscript. We would also like to extend our sincerest gratitude to the patients for their participation, and AGA (Asociación Galega de Ataxias) for their continuing cooperation.

Funding

This study was funded by the grants ISCIII/ PI12/01013, PI12/00742, and FEDER. R. Martínez-Regueiro was supported by a public fellowship from ISCIII/ FI14-00510/ cofounded by FEDER.

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Author notes

  1. R. Martínez-Regueiro, M. Arias, María-Jesús Sobrido and M. Fernández-Prieto contributed equally to this work.

Authors and Affiliations

  1. Neurogenetics Research Group, Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain

    R. Martínez-Regueiro, M. Arias, B. Quintáns, M. García-Murias, M-J Sobrido & M. Fernández-Prieto

  2. Genomics and Bioinformatics, CiMUS, Universidade de Santiago de Compostela (USC), Santiago de Compostela, Spain

    R. Martínez-Regueiro, R. Cruz, A. Carracedo & M. Fernández-Prieto

  3. Department of Neurology, Complexo Hospitalario Universitario de Santiago de Compostela (CHUS), SERGAS, Santiago de Compostela, Spain

    M. Arias, M. Pardo & J. Pardo

  4. Grupo de Medicina Xenómica, U-711, Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII, Santiago de Compostela, Spain

    R. Cruz, B. Quintáns, M. García-Murias, A. Carracedo, M-J Sobrido & M. Fernández-Prieto

  5. Fundación Pública Galega de Medicina Xenómica-SERGAS, Santiago de Compostela, Spain

    B. Quintáns & A. Carracedo

  6. Doctor Emeritus of SERGAS, Department of Otorhinolaryngology, Complexo Hospitalario Universitario de Santiago de Compostela (CHUS), Santiago de Compostela, Spain

    T. Labella-Caballero

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  1. R. Martínez-Regueiro
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  3. R. Cruz
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Correspondence to M-J Sobrido.

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Martínez-Regueiro, R., Arias, M., Cruz, R. et al. Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36). Cerebellum 19, 501–509 (2020). https://doi.org/10.1007/s12311-020-01110-0

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