title: Cerebellum and neuropsychiatric disorders: insights from ARSACS.
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.
authors: Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
authors: Andrea
authors: A
authors: Mignarri
authors: Alessandra
authors: A
authors: Tessa
authors: Maria Alessandra
authors: MA
authors: Carluccio
authors: Alessandra
authors: A
authors: Rufa
authors: Eugenia
authors: E
authors: Storti
authors: Giovanni
authors: G
authors: Bonelli
authors: Christian
authors: C
authors: Marcotulli
authors: Filippo Maria
authors: FM
authors: Santorelli
authors: Luca
authors: L
authors: Leonardi
authors: Carlo
authors: C
authors: Casali
authors: Antonio
authors: A
authors: Federico
authors: Maria Teresa
authors: MT
authors: Dotti
mesh_terms: D000293:Adolescent; D000328:Adult; D002531:Cerebellum / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000209:etiology*; D008875:Middle Aged; D009128:Muscle Spasticity / Q000473:pathology* / Q000523:psychology*; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000473:pathology / Q000523:psychology