• Neurol. Sci. · Jan 2014

    Case Reports

    Cerebellum and neuropsychiatric disorders: insights from ARSACS.

    • Andrea Mignarri, Alessandra Tessa, Maria Alessandra Carluccio, Alessandra Rufa, Eugenia Storti, Giovanni Bonelli, Christian Marcotulli, Filippo Maria Santorelli, Luca Leonardi, Carlo Casali, Antonio Federico, and Maria Teresa Dotti.
    • Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
    • Neurol. Sci. 2014 Jan 1;35(1):95-7.

    AbstractAutosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder characterized by ataxia, spastic paraparesis, polyneuropathy, and evidence of superior cerebellar vermis atrophy at magnetic resonance imaging (MRI). Reports of atypical presentations and additional clinical or MRI findings have been recently published, but psychiatric disturbances have never been associated with ARSACS. We describe four ARSACS patients manifesting severe psychiatric symptoms including psychosis, panic disorder, and depression during the course of the disease. Our case reports further expand the ARSACS phenotype and add clinical data in favor of the hypothesized relationship between cerebellar dysfunction and psychiatric disorders.

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