A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7
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RESEARCH
Open Access
A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7 Amy Moriarty1, Arron Cook2, Helen Hunt1, Matthew E. Adams3, Lisa Cipolotti1,4*† and Paola Giunti2*†
Abstract Background: The natural history of clinical symptoms in the spinocerebellar ataxias (SCA)s has been well characterised. However there is little longitudinal data comparing cognitive changes in the most common SCA subtypes over time. The present study provides a preliminary longitudinal characterisation of the clinical and cognitive profiles in patients with SCA1, SCA2, SCA3, SCA6 and SCA7, with the aim of elucidating the role of the cerebellum in cognition. Methods: 13 patients with different SCAs all caused by CAG repeat expansion (SCA1, n = 2; SCA2, n = 2; SCA3, n = 2; SCA6, n = 4; and SCA7, n = 3) completed a comprehensive battery of cognitive and mood assessments at two time points, a mean of 7.35 years apart. All patients were evaluated clinically using the Scale for the Rating and Assessment of Ataxia (SARA) and the Inventory of Non-Ataxia Signs (INAS). Patients underwent structural MRI imaging at follow-up. Results: Clinical scale scores increased in all patients over time, most prominently in the SCA1 (SARA) and SCA3 (INAS) groups. New impairments on neuropsychological tests were most commonly observed with executive functions, speed, attention, visual memory and Theory of Mind. Results suggest possible differences in cognitive decline in SCA subtypes, with the most rapid cognitive decline observed in the SCA1 patients, and the least in the SCA6 patients, congruent with observed patterns of motor deterioration. Minimal changes in mood were observed, and MRI measures of atrophy did not correlate with cognitive decline. Conclusion: As well as increasing physical impairment, cognitive decline over time appears to be a distinct aspect of the SCA phenotype, in keeping with the cerebellar cognitive-affective syndrome. Our data suggest a trend of cognitive decline that is different for each SCA subtype, and for the majority is related to the severity of cerebellar motor impairment. Keywords: Ataxia, Spinocerebellar ataxia, Cognition
Background The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of dominantly inherited neurodegenerative disorders, with a prevalence range of 0.9-3 in 100,000 [1]. Over thirty genetic subtypes have been described; the most common of these are SCA1, SCA2, SCA3, SCA6 and SCA7 [2]. The SCAs are * Correspondence: [email protected] L. Cipolotti and P. Giunti are senior authors † Equal contributors 1 Department of Neuropsychology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK 2 Department of Molecular Neuroscience, Ataxia Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK Full list of author information is available at the end of the article
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