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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)95-97
Number of pages3
JournalNeurological Sciences
Issue number1
Publication statusPublished - Jan 2014


  • Cerebellum
  • Neuropsychiatric disorders
  • Psychosis
  • Sacsin

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology


Dive into the research topics of 'Cerebellum and neuropsychiatric disorders: Insights from ARSACS'. Together they form a unique fingerprint.

Cite this