title: Cognitive findings in spinocerebellar ataxia type 2: relationship to genetic and clinical variables.
abstract: Several authors have recently reported a broad cognitive impairment in autosomal dominant cerebellar ataxias (ADCAs) patients. However, only a few studies on neuropsychological features in spinocerebellar ataxia type 2 (SCA2) patients are present in the current literature. The aim of this study is to evaluate the cognitive impairment in a wide sample of SCA2 patients and to verify the role of different disease-related factors (age of onset, disease duration, and clinical severity) on intellectual abilities. We administered a battery of neuropsychological tests assessing handedness, attention, short- and long-term verbal and visuo-spatial memory, executive functions, constructive abilities, general intellectual abilities and depression to 18 SCA2 patients belonging to eight families who came to our observation. Evidence of impaired verbal memory, executive functions and attention was found. The cognitive status was partially related to clinical severity rather than to disease duration or age at onset of symptoms. We partially confirmed data on cognitive defects already reported by others but we also found defective attention skills as well as significant lower performances in a nonverbal intelligence task.
authors.affiliation: Department of Neurosciences, University of Catania, Via S. Sofia 78, I-95125, Catania, Italy. lepira@unict.it
authors.forename: Francesco
authors.initials: F
authors.lastname: Le Pira
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Zappalà
authors.forename: Riccardo
authors.initials: R
authors.lastname: Saponara
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Domina
authors.forename: Domenico
authors.initials: D
authors.lastname: Restivo
authors.forename: Ester
authors.initials: E
authors.lastname: Reggio
authors.forename: Alessandra
authors.initials: A
authors.lastname: Nicoletti
authors.forename: Salvatore
authors.initials: S
authors.lastname: Giuffrida
mesh_terms: D000328:Adult; D000368:Aged; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics*; D004522:Educational Status; D005192:Family Health; D005260:Female; D006801:Humans; D007361:Intelligence Tests; D008297:Male; D008568:Memory; D008875:Middle Aged; D009483:Neuropsychological Tests; D020754:Spinocerebellar Ataxias / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*