title: Spinal Cord Damage in Spinocerebellar Ataxia Type 1.
abstract: Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder caused by a CAG repeat expansion, characterized by progressive cerebellar ataxia and pyramidal signs. Non-motor and extracerebellar symptoms may occur. MRI-based studies in SCA1 focused in the cerebellum and connections, but there are no data about cord damage in the disease and its clinical relevance. To evaluate in vivo spinal cord damage in SCA1, a group of 31 patients with SCA1 and 31 age- and gender-matched healthy controls underwent MRI on a 3T scanner. We used T1-weighted 3D images to estimate the cervical spinal cord area (CA) and eccentricity (CE) at three C2/C3 levels based on a semi-automatic image segmentation protocol. The scale for assessment and rating of ataxia (SARA) was used to quantify disease severity. The groups were significantly different regarding CA (47.26 ± 7.4 vs. 68.8 ± 5.7 mm2, p < 0.001) and CE values (0.803 ± 0.044 vs. 0.774 ± 0.043, p < 0.05). Furthermore, in the patient group, CA presented significant correlation with SARA scores (R = -0.633, p < 0.001) and CAGn expansion (R = -0.658, p < 0.001). CE was not associated with SARA scores (p = 0.431). In the multiple variable regression, CA was strongly associated with disease duration (coefficient -0.360, p < 0.05) and CAGn expansion (coefficient -1.124, p < 0.001). SCA1 is characterized by cervical cord atrophy and anteroposterior flattening. Morphometric analyses of the spinal cord MRI might be a useful biomarker in the disease.
authors.affiliation: Department of Neurology and Neuroimaging Laboratory, School of Medical Sciences, University of Campinas-UNICAMP, Campinas, São Paulo, Brazil.
authors.forename: Carlos Roberto
authors.initials: CR
authors.lastname: Martins
authors.affiliation: Department of Neurology and Neuroimaging Laboratory, School of Medical Sciences, University of Campinas-UNICAMP, Campinas, São Paulo, Brazil.
authors.forename: Alberto Rolim Muro
authors.initials: ARM
authors.lastname: Martinez
authors.affiliation: Department of Neurology and Neuroimaging Laboratory, School of Medical Sciences, University of Campinas-UNICAMP, Campinas, São Paulo, Brazil.
authors.forename: Thiago Junqueira Ribeiro
authors.initials: TJR
authors.lastname: de Rezende
authors.affiliation: Department of Neurology and Neuroimaging Laboratory, School of Medical Sciences, University of Campinas-UNICAMP, Campinas, São Paulo, Brazil.
authors.forename: Lucas Melo Teixeira
authors.initials: LMT
authors.lastname: Branco
authors.affiliation: Department of Neurology, Ataxia Unit, Federal University of São Paulo-UNIFESP, São Paulo, Brazil.
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.affiliation: Department of Neurology, Ataxia Unit, Federal University of São Paulo-UNIFESP, São Paulo, Brazil.
authors.forename: Orlando G P
authors.initials: OGP
authors.lastname: Barsottini
authors.affiliation: Department of Medical Genetics, School of Medical Sciences, University of Campinas-UNICAMP, Campinas, São Paulo, Brazil.
authors.forename: Iscia
authors.initials: I
authors.lastname: Lopes-Cendes
authors.affiliation: Department of Neurology and Neuroimaging Laboratory, School of Medical Sciences, University of Campinas-UNICAMP, Campinas, São Paulo, Brazil. mcfrancajr@uol.com.br.|Department of Neurology, University of Campinas-UNICAMP, Rua Tessália Vieira de Camargo, 126. Cidade Universitaria "Zeferino Vaz", Campinas, São Paulo, 13083-887, Brazil. mcfrancajr@uol.com.br.
authors.forename: Marcondes C
authors.initials: MC
authors.lastname: França
mesh_terms: D000328:Adult; D066193:Cervical Cord / Q000000981:diagnostic imaging*; D003430:Cross-Sectional Studies; D018450:Disease Progression; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009929:Organ Size; D010363:Pattern Recognition, Automated; D012044:Regression Analysis; D020754:Spinocerebellar Ataxias / Q000000981:diagnostic imaging*
keywords: Ataxia; Biomarker; MRI; Polyglutamine disorders; Spinal cord; Spinocerebellar ataxia type 1