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Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2

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Abstract

The role of the cerebellum in cognition, both in healthy subjects and in patients with cerebellar diseases, is debated. Neuropsychological studies in spinocerebellar ataxia type 1 (SCA1) and type 2 (SCA2) demonstrated impairments in executive functions, verbal memory, and visuospatial performances, but prospective evaluations are not available. Our aims were to assess progression of cognitive and psychiatric functions in patients with SCA1 and SCA2 in a longitudinal study. We evaluated at baseline 20 patients with SCA1, 22 patients with SCA2 and 17 matched controls. Two subgroups of patients (9 SCA1, 11 SCA2) were re-evaluated after 2 years. We tested cognitive functions (Mini Mental State Examination, digit span, Corsi span, verbal memory, attentional matrices, modified Wisconsin Card Sorting Test, Raven Progressive Matrices, Benton test, phonemic and semantic fluency), psychiatric status (Scales for Assessment of Negative and Positive Symptoms, Hamilton Depression and Anxiety Scales), neurological conditions (Scale for Assessment and Rating of Ataxia), and functional abilities (Unified Huntington Disease Rating Scale–part IV). At baseline, SCA1 and SCA2 patients had significant deficits compared to controls, mainly in executive functions (phonemic and semantic fluencies, attentional matrices); SCA2 showed further impairment in visuospatial and visuoperceptive tests (Raven matrices, Benton test, Corsi span). Both SCA groups had higher depression and negative symptoms, particularly apathy, compared to controls. After 2 years, motor and functional disability worsened, while only attentive performances deteriorated in SCA2. This longitudinal study showed dissociation in progression of motor disability and cognitive impairment, suggesting that in SCA1 and SCA2 motor and cognitive functions might be involved with different progression rates.

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Acknowledgments

We thank all the patients, their families, and the control subjects. We also want to thank Drs. L. Nanetti, V. Redaelli, D. Monza, D. Pareyson, F. Taroni, S. Di Donato, and C. Mariotti for their logistic, clinical and intellectual support.

Conflicts of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

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Authors and Affiliations

  1. SOSD Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy

    Roberto Fancellu, Chiara Tomasello, Marta Panzeri, Anna Castaldo & Silvia Genitrini

  2. Unit of Movement Disorders, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy

    Dominga Paridi & Paola Soliveri

  3. Unit of Neuropathology, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy

    Floriano Girotti

  4. Unit of Neurology, Villa Scassi Hospital, ASL3, Corso Scassi 1, 16149, Genoa, Italy

    Roberto Fancellu

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  1. Roberto Fancellu
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  2. Dominga Paridi
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Correspondence to Roberto Fancellu.

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Fancellu, R., Paridi, D., Tomasello, C. et al. Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2. J Neurol 260, 3134–3143 (2013). https://doi.org/10.1007/s00415-013-7138-1

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