Parkinsonism & Related Disorders

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Presentation transcript:

Parkinsonism & Related Disorders Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) Barbara Borroni, Eleonora Di Gregorio, Laura Orsi, Giovanna Vaula, Chiara Costanzi, Filippo Tempia, Nico Mitro, Donatella Caruso, Marta Manes, Lorenzo Pinessi, Alessandro Padovani, Alfredo Brusco, Loredana Boccone Parkinsonism & Related Disorders Volume 28, Pages 80-86 (July 2016) DOI: 10.1016/j.parkreldis.2016.04.030 Copyright © 2016 The Authors Terms and Conditions

Fig. 1 Pedigrees of the three Italian families with SCA38. Unfilled symbols indicate unaffected family members, and solid black symbols affected members. A line above the symbol indicates individuals for whom DNA was available. The genotype of the ELOVL5 mutations is indicated below each tested subject. Individuals carrying ELOVL5 mutation are indicated by a “±” below the symbol. Parkinsonism & Related Disorders 2016 28, 80-86DOI: (10.1016/j.parkreldis.2016.04.030) Copyright © 2016 The Authors Terms and Conditions

Fig. 2 Signs and symptoms (panel A) and loss of activities of daily living (panel B) of SCA38 patients according to decades from disease onset. In grey, symptoms reported in the first 10 years of the disease, in blue those reported from 10 to 20 years of the disease, in violet those reported over 20 years from the onset of symptoms. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.) Parkinsonism & Related Disorders 2016 28, 80-86DOI: (10.1016/j.parkreldis.2016.04.030) Copyright © 2016 The Authors Terms and Conditions

Fig. 3 Structural and functional neuroimaging findings in two patients with SCA38 (SCA38-01-BS III:10 and SCA38-01-BS III:6). Panel A. Coronal, sagittal and axial magnetic resonance imaging sections (MRI). Panel B. FDG-PET images were processed by Statistical Parametric Mapping (SPM8), and single-subject analysis using a group of 19 healthy controls (mean age: 53 years; female: 59%) was performed (patient < controls) and results were superimposed to T1 MRI template. Statistical threshold was set at P < 0.001, uncorrected for multiple comparisons, with voxel threshold = 100 voxels. Parkinsonism & Related Disorders 2016 28, 80-86DOI: (10.1016/j.parkreldis.2016.04.030) Copyright © 2016 The Authors Terms and Conditions