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Background <p>Spinocerebellar ataxia type 27B (SCA27B) is caused by ≥ 250 GAA repeat expansions in intron 1 of the <i>FGF14</i> gene. While motor symptoms are well documented, cognitive manifestations remain insufficiently explored. The cerebellar cognitive affective syndrome scale (CCAS scale) provides a framework for assessing cognition.</p> Methods <p>We conducted a prospective study at Nancy University Hospital. The primary objective was to determine the prevalence of cerebellar cognitive affective syndrome. We subsequently characterized the cognitive profile using a standardized neuropsychological battery, evaluated quality of life, and examined the associations between CCAS score, GAA repeat length, motor severity, and age at onset. A [18F]-FDG PET metabolic analysis was performed, including individual visual analysis, followed by a whole-brain voxel-by-voxel comparison between SCA27B patients, healthy controls, and MSA patients.</p> Results <p>Seventeen patients with genetically confirmed SCA27B were included. Motor symptoms were moderate (mean SARA score: 7 ± 6.2/40). Definite cerebellar cognitive affective syndrome (≥ 3 failed subtests) was identified in 41% (7/17) of the patients. The comprehensive neuropsychological evaluation revealed mild-to-moderate cognitive impairment; across all cognitive functions tested, fewer than 12% of patients showed cognitive impairment, except for social cognition (23.6%). The PET scan showed preserved cerebellar metabolism in individual analyses (2 patients with hypometabolism). Whole-brain voxel-based analysis, when compared to healthy controls, identified 5 clusters of hypometabolism, with no hypermetabolism.</p> Conclusion <p>This study is among the first to investigate cognitive impairment in patients with SCA27B using the CCAS scale and comprehensive neuropsychological testing. A substantial prevalence of cerebellar cognitive affective syndrome was observed, even if the decrease of cerebellar metabolic was modest. These findings highlight the need for systematic screening of cognitive and nonmotor symptoms to improve multidisciplinary management.</p>

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Cerebellar cognitive affective syndrome (CCAS) and [18F]-FDG PET findings in spinocerebellar ataxia type SCA27B

  • 期刊论文

  • 发表日期：

    2026年7月21日

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  • Laurine Cros,
  • David Pellerin,
  • Thomas Palpacuer,
  • Salomé Puisieux,
  • Solène Frismand,
  • Armand Hocquel,
  • Marion Wandzel,
  • Virginie Roth,
  • Carine Pourié,
  • Bernard Brais,
  • Céline Bonnet,
  • Mylène Meyer,
  • Céline Dillier,
  • Amory Jardel,
  • Lucie Hopes,
  • Antoine Verger,
  • Mathilde Renaud,
  • Guillemette Clément

摘要

Background

Spinocerebellar ataxia type 27B (SCA27B) is caused by ≥ 250 GAA repeat expansions in intron 1 of the FGF14 gene. While motor symptoms are well documented, cognitive manifestations remain insufficiently explored. The cerebellar cognitive affective syndrome scale (CCAS scale) provides a framework for assessing cognition.

Methods

We conducted a prospective study at Nancy University Hospital. The primary objective was to determine the prevalence of cerebellar cognitive affective syndrome. We subsequently characterized the cognitive profile using a standardized neuropsychological battery, evaluated quality of life, and examined the associations between CCAS score, GAA repeat length, motor severity, and age at onset. A [18F]-FDG PET metabolic analysis was performed, including individual visual analysis, followed by a whole-brain voxel-by-voxel comparison between SCA27B patients, healthy controls, and MSA patients.

Results

Seventeen patients with genetically confirmed SCA27B were included. Motor symptoms were moderate (mean SARA score: 7 ± 6.2/40). Definite cerebellar cognitive affective syndrome (≥ 3 failed subtests) was identified in 41% (7/17) of the patients. The comprehensive neuropsychological evaluation revealed mild-to-moderate cognitive impairment; across all cognitive functions tested, fewer than 12% of patients showed cognitive impairment, except for social cognition (23.6%). The PET scan showed preserved cerebellar metabolism in individual analyses (2 patients with hypometabolism). Whole-brain voxel-based analysis, when compared to healthy controls, identified 5 clusters of hypometabolism, with no hypermetabolism.

Conclusion

This study is among the first to investigate cognitive impairment in patients with SCA27B using the CCAS scale and comprehensive neuropsychological testing. A substantial prevalence of cerebellar cognitive affective syndrome was observed, even if the decrease of cerebellar metabolic was modest. These findings highlight the need for systematic screening of cognitive and nonmotor symptoms to improve multidisciplinary management.