title: Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11.
abstract: Autosomal recessive hereditary spastic paraplegia with thinning of the anterior corpus callosum (ARHSP-TCC) due to mutations in SPG11 on chromosome 15q (MIM610844) is the single most common cause of ARHSP. It is characterized by slowly progressive paraparesis and peripheral neuropathy. Although cognitive impairment, sometimes diagnosed as mental retardation, is an almost invariable feature, the extent and specific neuropsychological features are not fully understood. We report a comprehensive neuropsychological assessment in two ARHSP-TCC patients harbouring mutations in SPG11. A specific impairment in executive functions occurring even before cognitive decline, may be considered the core of the neuropsychological profile of patients harbouring mutations in SPG11.
authors.affiliation: Child Neurology and Psychiatry Unit, G. Gaslini Institute and University of Genova, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Siri
authors.forename: F M
authors.initials: FM
authors.lastname: Battaglia
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: A
authors.initials: A
authors.lastname: Rossi
authors.forename: M Di
authors.initials: MD
authors.lastname: Rocco
authors.forename: S
authors.initials: S
authors.lastname: Facchinetti
authors.forename: M
authors.initials: M
authors.lastname: Mascaretti
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: E
authors.initials: E
authors.lastname: Veneselli
authors.forename: R
authors.initials: R
authors.lastname: Biancheri
mesh_terms: D000293:Adolescent; D003072:Cognition Disorders / Q000209:etiology / Q000235:genetics / Q000473:pathology; D003337:Corpus Callosum / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D020336:Paraparesis, Spastic / Q000150:complications / Q000235:genetics / Q000473:pathology; D011506:Proteins / Q000235:genetics*
chemical_list: D011506:Proteins; C520412:SPG11 protein, human