title: Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the disease.
abstract: The prodromal phase of spinocerebellar ataxias (SCAs) has not been systematically studied. Main findings come from a homogeneous SCA type 2 (SCA2) population living in Cuba. The aim of this study was to characterize extensively the prodromal phase of SCA2 by several approaches. Thirty-seven non-ataxic SCA2 mutation carriers and its age- and sex-matched controls underwent clinical assessments, including standardized neurological exam, structured interviews and clinical scales, and looking for somatic and autonomic features, as well as a neuropsychological battery, antisaccadic recordings, and MRI scans. Main clinical somatic features of non-ataxic mutation carriers were cramps, sensory symptoms, sleep disorders, and hyperreflexia, whereas predominating autonomic symptoms were pollakiuria/nocturia, constipation, and frequent throat clearing. Cognitive impairments included early deficits of executive functions and visual memory, suggesting the involvement of cerebro-cerebellar-cerebral loops and/or reduced cholinergic basal forebrain input to the cortex. Antisaccadic task revealed impaired oculomotor inhibitory control but preserved ability for error correction. Cognitive and antisaccadic deficits were higher as carriers were closer to the estimated onset of ataxia, whereas higher Scale for the Assessment and Rating of Ataxia (SARA) scores were associated most notably to vermis atrophy. The recognition of early features of SCA2 offers novel insights into the prodromal phase and physiopathological base of the disease, allowing the assessment of its progression and the efficacy of treatments, in particular at early phases when therapeutical options should be most effective.
authors.affiliation: Center for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street 26, Holguín, 80100, Cuba, velazq63@gmail.com.
authors.forename: Luis
authors.initials: L
authors.lastname: Velázquez-Pérez
authors.forename: Roberto
authors.initials: R
authors.lastname: Rodríguez-Labrada
authors.forename: Edilia M
authors.initials: EM
authors.lastname: Cruz-Rivas
authors.forename: Juan
authors.initials: J
authors.lastname: Fernández-Ruiz
authors.forename: Israel
authors.initials: I
authors.lastname: Vaca-Palomares
authors.forename: Jandy
authors.initials: J
authors.lastname: Lilia-Campins
authors.forename: Bulmaro
authors.initials: B
authors.lastname: Cisneros
authors.forename: Arnoy
authors.initials: A
authors.lastname: Peña-Acosta
authors.forename: Yaimeé
authors.initials: Y
authors.lastname: Vázquez-Mojena
authors.forename: Rosalinda
authors.initials: R
authors.lastname: Diaz
authors.forename: Jonathan J
authors.initials: JJ
authors.lastname: Magaña-Aguirre
authors.forename: Tania
authors.initials: T
authors.lastname: Cruz-Mariño
authors.forename: Annelié
authors.initials: A
authors.lastname: Estupiñán-Rodríguez
authors.forename: José M
authors.initials: JM
authors.lastname: Laffita-Mesa
authors.forename: Rigoberto
authors.initials: R
authors.lastname: González-Piña
authors.forename: Nalia
authors.initials: N
authors.lastname: Canales-Ochoa
authors.forename: Yanetza
authors.initials: Y
authors.lastname: González-Zaldivar
mesh_terms: D000328:Adult; D000368:Aged; D000067528:Ataxins; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D003072:Cognition Disorders / Q000453:epidemiology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D003462:Cuba / Q000453:epidemiology; D053483:Eye Movement Measurements; D005260:Female; D006801:Humans; D007407:Interviews as Topic; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D062706:Prodromal Symptoms; D012438:Saccades; D012720:Severity of Illness Index; D020754:Spinocerebellar Ataxias / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D055815:Young Adult
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins