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Neuropsychiatric Symptoms as a Reliable Phenomenology of Cerebellar Ataxia

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Abstract

While cerebellar ataxia (CA) is a neurodegenerative disease known for motor impairment, changes in mood have also been reported. A full account of neuropsychiatric symptomology in CA may guide improvements in treatment regimes, measure the presence and severity of sub-clinical neuropsychiatric disturbance symptomology in CA, and compare patient versus informant symptom recognition. Neuropsychiatric phenomena were gathered from CA patients with genetic and unknown etiologies and their informants (e.g., spouse or parent). Information was obtained from in-person interviews and the Center for Epidemiologic Studies Depression Scale. Responses were converted to the Neuropsychiatric Inventory-Questionnaire (NPI-Q) scores by consensus ratings. Patient NPI-Q scores were evaluated for symptom prevalence and severity relative to those obtained from healthy controls. Patient-informant NPI-Q score disagreements were evaluated. In this cohort, 95% of patients presented with at least one neuropsychiatric symptom and 51% of patients with three or more symptoms. The most common symptoms were anxiety, depression, nighttime behaviors (e.g., interrupted sleep), irritability, disinhibition, abnormal appetite, and agitation. The prevalence of these neuropsychiatric symptoms was uniform across patients with genetic versus unknown etiologies. Patient and informant symptom report disagreements reflected that patients noted sleep impairment and depression, while informants noted irritability and agitation. Neuropsychiatric disturbance is highly prevalent in patients with CA and contributes to the phenomenology of CA, regardless of etiology. Clinicians should monitor psychiatric health in their CA patients, considering that supplemental information from informants can help gauge the impact on family members and caregivers.

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Acknowledgments

We would like to thank Shravi Lam for her help in gathering medication data. We would also like to thank the faculty and staff of the Johns Hopkins Ataxia Center and the National Ataxia Foundation for their support in providing testing resources at the 2017 Annual Ataxia Conference. Thank you to the patients and families who interviewed with us for this study.

Funding

This study was funded by NINDS, The Gordon and Marylin Macklin Foundation, The Jane Tanger Black Fund for Young-Onset Dementias, The Nancy H. Hall Fund for Geriatric Psychiatry, and the Margaret Q. Landenberger Research Foundation.

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Authors and Affiliations

  1. Interdepartmental Neuroscience Program, Yale University, New Haven, CT, USA

    Sharif I. Kronemer

  2. Neurology, Yale University, New Haven, CT, USA

    Sharif I. Kronemer

  3. Neurology, Johns Hopkins University, Baltimore, MD, USA

    Mitchell B. Slapik, Jessica R. Pietrowski, Owen P. Morgan, Catherine C. Bakker, Liana S. Rosenthal & Cherie L. Marvel

  4. Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, USA

    Michael J. Margron, Chiadi U. Onyike & Cherie L. Marvel

Authors
  1. Sharif I. Kronemer
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  2. Mitchell B. Slapik
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  3. Jessica R. Pietrowski
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  4. Michael J. Margron
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  7. Liana S. Rosenthal
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  8. Chiadi U. Onyike
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  9. Cherie L. Marvel
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Contributions

The study was conceptualized by Sharif Kronemer, Liana Rosenthal, Chiadi Onyike, and Cherie Marvel. Material preparation and data collection and processing were completed by Sharif Kronemer, Mitchell Slapik, Jessica Pietrowski, Michael Margron, Owen Morgan, Catherine Bakker, Liana Rosenthal, Chiadi Onyike, and Cherie Marvel. Analyses were completed by Sharif Kronemer and Cherie Marvel. Sharif Kronemer, Chiadi Onyike, and Cherie Marvel drafted the manuscript. All authors reviewed and approved the manuscript. Funding was provided by Sharif Kronemer (National Institute of Neurological Disorders and Stroke, T32 NS007224), Liana Rosenthal (The Gordon and Marylin Macklin Foundation), Chiadi Onyike (The Jane Tanger Black Fund for Young-Onset Dementias and the Nancy H. Hall Fund for Geriatric Psychiatry), and Cherie Marvel (The Margaret Q. Landenberger Research Foundation).

Corresponding author

Correspondence to Cherie L. Marvel.

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All study procedures were approved by the Institutional Review Board at Johns Hopkins University and performed in accordance with the Declaration of Helsinki.

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Informed consent was obtained from all participants prior to participating in this study.

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Kronemer, S.I., Slapik, M.B., Pietrowski, J.R. et al. Neuropsychiatric Symptoms as a Reliable Phenomenology of Cerebellar Ataxia. Cerebellum 20, 141–150 (2021). https://doi.org/10.1007/s12311-020-01195-7

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