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Neurological Sciences

, Volume 35, Issue 1, pp 95–97 | Cite as

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
  • Maria Teresa Dotti
Brief Communication

Abstract

Autosomal 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.

Keywords

ARSACS Sacsin Neuropsychiatric disorders Cerebellum Psychosis 

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Copyright information

© Springer-Verlag Italia 2013

Authors and Affiliations

  • Andrea Mignarri
    • 1
  • Alessandra Tessa
    • 2
  • Maria Alessandra Carluccio
    • 1
  • Alessandra Rufa
    • 1
  • Eugenia Storti
    • 2
  • Giovanni Bonelli
    • 3
  • Christian Marcotulli
    • 4
  • Filippo Maria Santorelli
    • 2
  • Luca Leonardi
    • 4
  • Carlo Casali
    • 4
  • Antonio Federico
    • 1
  • Maria Teresa Dotti
    • 1
  1. 1.Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and NeurosciencesUniversity of SienaSienaItaly
  2. 2.Unit of Molecular MedicineIRCCS Stella MarisPisaItaly
  3. 3.Unit of PsychiatryUniversity of SienaSienaItaly
  4. 4.Department of Medical-Surgical Sciences and BiotechnologiesSapienza University of RomeLatinaItaly

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