The Cerebellum

, Volume 18, Issue 2, pp 225–244 | Cite as

The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia

  • Franziska Hoche
  • Maureen P. Daly
  • Yogesh K. Chutake
  • Eve Valera
  • Janet C. Sherman
  • Jeremy D. SchmahmannEmail author
Original Paper


Ataxia-telangiectasia (AT) is an autosomal recessive, multisystem disease causing cerebellar ataxia, mucocutaneous telangiectasias, immunodeficiency, and malignancies. A pilot study reported cognitive and behavioral manifestations characteristic of the cerebellar cognitive affective / Schmahmann syndrome (CCAS). We set out to test and further define these observations because a more comprehensive understanding of the spectrum of impairments in AT is essential for optimal management. Twenty patients (12 males; 9.86 ± 5.5 years, range 4.3 to 23.2) were grouped by age: AT-I (toddlers and preschoolers, n = 7, 4.3–5.9 years), AT-II (school children, n = 7, 5.9–9.8 years), AT-III (adolescents/young adults, n = 6, 12.6–23.2 years). Standard and experimental tests investigated executive, linguistic, visual-spatial, and affective/social-cognitive domains. Results were compared to standard norms and healthy controls. Cognitive changes in AT-I were limited to mild visual-spatial disorganization. Spatial deficits were greater in AT-II, with low average scores on executive function (auditory working memory), expressive language (vocabulary), academic abilities (math, spelling, reading), social cognition (affect recognition from faces), and emotional/psychological processing. Full Scale IQ scores were low average to borderline impaired. AT-III patients had the greatest level of deficits which were evident particularly in spatial skills, executive function (auditory working memory, sequencing, word/color interference, set-shifting, categorization errors, perseveration), academic achievement, social cognition (affect recognition from faces), and behavioral control. Full Scale IQ scores in this group fell in the impaired range, while language was borderline impaired for comprehension, and low average for expression. Cognitive deficits in AT at a young age are mild and limited to visual-spatial functions. More widespread cognitive difficulties emerge with age and disease progression, impacting executive function, spatial skills, affect, and social cognition. Linguistic processing remains mildly affected. Recognition of the CCAS in children with AT may facilitate therapeutic interventions to improve quality of life.


Cerebellar cognitive affective syndrome CCAS Ataxia-telangiectasia Cognition Behavior 



We gratefully acknowledge the assistance throughout the project of Jason MacMore, Marygrace Neal, and Xavier Guell.

Funding Information

This study was supported in part by the Ataxia Telangiectasia Children’s Project, the National Ataxia Foundation, NIH 5R01NS080816-03, and the MINDlink Foundation.

Compliance with Ethical Standards

Conflict of Interest

Dr. Schmahmann consults for Bayer, Biogen, Biohaven, Cadent and Pfizer, and receives royalties for book publications from Elsevier, Oxford, MacKeith, and Springer. The authors declare that they have no conflict of interest.

Supplementary material

12311_2018_983_MOESM1_ESM.doc (158 kb)
ESM 1 (DOC 157 kb)
12311_2018_983_MOESM2_ESM.doc (74 kb)
ESM 2 (DOC 73 kb)
12311_2018_983_MOESM3_ESM.docx (21 kb)
ESM 3 (DOCX 18 kb)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Franziska Hoche
    • 1
  • Maureen P. Daly
    • 2
  • Yogesh K. Chutake
    • 3
  • Eve Valera
    • 4
  • Janet C. Sherman
    • 2
  • Jeremy D. Schmahmann
    • 1
    Email author
  1. 1.Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of NeurologyMassachusetts General Hospital and Harvard Medical SchoolBostonUSA
  2. 2.Psychology Assessment Center, Department of PsychiatryMassachusetts General Hospital and Harvard Medical SchoolBostonUSA
  3. 3.Department of PediatricsUniversity of Oklahoma Health Sciences CenterOklahoma CityUSA
  4. 4.Department of Psychiatry, Athinoula A. Martinos Center for Biomedical ImagingMassachusetts General Hospital and Harvard Medical SchoolBostonUSA

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