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Specific cerebellar and cortical degeneration correlates with ataxia severity in spinocerebellar ataxia type 7

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Abstract

Spinocerebellar ataxia type 7 (SCA7) is a progressive neurodegenerative disorder that is accompanied by loss of motor control and macular degeneration. Previous studies have shown cerebellar and pons atrophy as well as functional connectivity changes across the whole brain. Although different MRI modalities have been used to study the degenerative process, little is known about the relationship between the motor symptoms and cerebral atrophy. Twenty-four patients with molecular diagnosis of SCA7 where invited to participate in this study. Ataxia severity was evaluated using the scale for the assessment and rating of ataxia (SARA). Structural magnetic resonance imaging (MRI) brain images were used to obtain the grey matter volume of each participant. As expected, we found a significant negative correlation between the SARA score and the grey matter volume in distinct regions of the cerebellum in the patient group. Additionally, we found significant correlations between the ataxia degree and the degeneration of specific cortical areas in these patients. These findings provide a better understanding of the relationship between gray matter atrophy and ataxia related symptoms that result from the SCA7 mutation.

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Acknowledgments

This study was supported in part by: Universidad Nacional Autonoma de Mexico (PAPIIT IN221413) and Consejo Nacional de Ciencia y Tecnologia (220871) grants to Juan Fernandez Ruiz, as well as the National Ataxia Foundation (USA) grant to Carlos R. Hernandez-Castillo.

Conflict of Interest

Carlos R. Hernandez-Castillo, Victor Galvez, Rosalinda Diaz, and Juan Fernandez-Ruiz declare that they have no conflicts of interest.

Informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, and the applicable revisions at the time of the investigation. Informed consent was obtained from all patients for being included in the study.

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Authors and Affiliations

  1. Consejo Nacional de Ciencia y Tecnología – Cátedras - Instituto de Neuroetologia, Universidad Veracruzana, Xalapa, México

    Carlos R. Hernandez-Castillo

  2. Instituto de Neuroetologia, Universidad Veracruzana, Xalapa, México

    Victor Galvez & Juan Fernandez-Ruiz

  3. Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, Distrito Federal, México

    Rosalinda Diaz & Juan Fernandez-Ruiz

Authors
  1. Carlos R. Hernandez-Castillo
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  2. Victor Galvez
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  3. Rosalinda Diaz
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  4. Juan Fernandez-Ruiz
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Corresponding author

Correspondence to Juan Fernandez-Ruiz.

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Hernandez-Castillo, C.R., Galvez, V., Diaz, R. et al. Specific cerebellar and cortical degeneration correlates with ataxia severity in spinocerebellar ataxia type 7. Brain Imaging and Behavior 10, 252–257 (2016). https://doi.org/10.1007/s11682-015-9389-1

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