In vivo assessment of neurodegeneration in Spinocerebellar Ataxia type 7

Albi, 2017, Free water elimination improves test–retest reproducibility of diffusion tensor imaging indices in the brain: a longitudinal multisite study of healthy elderly subjects, Hum. Brain Mapp., 38, 12, 10.1002/hbm.23350 Alcauter, 2011, Gray and white matter alterations in spinocerebellar ataxia type 7: an in vivo DTI and VBM study, NeuroImage, 55, 1, 10.1016/j.neuroimage.2010.12.014 Alexander, 2001, Analysis of partial volume effects in diffusion-tensor MRI, Magn. Reson. Med., 45, 770, 10.1002/mrm.1105 Alexander, 2007, Diffusion tensor imaging of the brain, Neurotherapeutics, 4, 316, 10.1016/j.nurt.2007.05.011 Ansorge, 2004, Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats, Ann. Neurol., 56, 448, 10.1002/ana.20230 Ashburner, 2000, Voxel-based morphometry—the methods, NeuroImage, 11, 805, 10.1006/nimg.2000.0582 Basser, 2011, Microstructural and physiological features of tissues elucidated by quantitative-diffusion-tensor MRI, J. Magn. Reson., 213, 560, 10.1016/j.jmr.2011.09.022 Basser, 1994, MR diffusion tensor spectroscopy and imaging, Biophys. J., 66, 259, 10.1016/S0006-3495(94)80775-1 Buckner, 2004, A unified approach for morphometric and functional data analysis in young, old, and demented adults using automated atlas-based head size normalization: reliability and validation against manual measurement of total intracranial volume, NeuroImage, 23, 724, 10.1016/j.neuroimage.2004.06.018 Budde, 2011, The contribution of gliosis to diffusion tensor anisotropy and tractography following traumatic brain injury: validation in the rat using Fourier analysis of stained tissue sections, Brain, 134, 2248, 10.1093/brain/awr161 Chirino, 2018, Motor and cognitive impairments in spinocerebellar ataxia type 7 and its correlations with cortical volumes, Eur. J. Neurosci., 48, 3199, 10.1111/ejn.14148 Contreras, 2020, Longitudinal analysis of the relation between clinical impairment and gray matter degeneration in spinocerebellar ataxia Type 7 patients, Cerebellum, 10.1007/s12311-020-01205-8 Cox, 2012, AFNI: what a long strange trip it's been, NeuroImage, 62, 743, 10.1016/j.neuroimage.2011.08.056 David, 1998, Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7), Hum. Mol. Genet., 7, 165, 10.1093/hmg/7.2.165 Desikan, 2006, An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest, NeuroImage, 31, 968, 10.1016/j.neuroimage.2006.01.021 Douaud, 2007, Anatomically related grey and white matter abnormalities in adolescent-onset schizophrenia, Brain, 130, 2375, 10.1093/brain/awm184 Enevoldson, 1994, Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight familes, Brain, 117, 445, 10.1093/brain/117.3.445 Fischl, 2002, Whole brain segmentation: automated labeling of neuroanatomical structures in the human brain, Neuron, 33, 341, 10.1016/S0896-6273(02)00569-X Fischl B. FreeSurfer. NeuroImage 2012;62(2):774–781. https://doi.org/10.1016/j.neuroimage.2012.01.021. Hernandez-Castillo, 2013, Disruption of visual and motor connectivity in spinocerebellar ataxia type 7, Mov. Disord., 28, 1708, 10.1002/mds.25618 Hernandez-Castillo, 2016, Specific cerebellar and cortical degeneration correlates with ataxia severity in spinocerebellar ataxia type 7, Brain Imag. Behav., 10, 252, 10.1007/s11682-015-9389-1 Hernandez-Castillo, 2018, Unique degeneration signatures in the cerebellar cortex for spinocerebellar ataxias 2, 3, and 7, NeuroImage: Clin., 20 Hernandez-Castillo, 2016, Ataxia severity correlates with white matter degeneration in spinocerebellar ataxia type 7, Am. J. Neuroradiol., 37, 2050, 10.3174/ajnr.A4903 Holmberg, 1998, Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions, Hum. Mol. Genet., 7, 913, 10.1093/hmg/7.5.913 Horton, 2013, Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology, Cerebellum, 12, 176, 10.1007/s12311-012-0412-4 Irfanoglu MO, Nayak A, Jenkins J, Pierpaoli C. TORTOISE v3: Improvements and New Features of the NIH Diffusion MRI Processing Pipeline. ISMRM 25th annual meeting; 2017; Honolulu, HI. Irfanoglu, 2016, DR-TAMAS: diffeomorphic registration for tensor accurate alignment of anatomical structures, NeuroImage, 132, 439, 10.1016/j.neuroimage.2016.02.066 Mascalchi, M., Vella, A., Chapter 4 – Magnetic resonance and nuclear medicine imaging in ataxias. In: Subramony, S.H., Dürr, A., eds. Handbook of Clinical Neurology: Elsevier, 2012:85-110. https://doi.org/10.1016/B978-0-444-51892-7.00004-8. Mori, 2008, Stereotaxic white matter atlas based on diffusion tensor imaging in an ICBM template, NeuroImage, 40, 570, 10.1016/j.neuroimage.2007.12.035 Niu C, Prakash TP, Kim A, et al. Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7. Sci. Transl. Med. 2018;10(465):eaap8677. 10.1126/scitranslmed.aap8677. Oishi, 2008, Human brain white matter atlas: identification and assignment of common anatomical structures in superficial white matter, NeuroImage, 43, 447, 10.1016/j.neuroimage.2008.07.009 Pasternak, 2009, Free water elimination and mapping from diffusion MRI, Magn. Reson. Med., 62, 717, 10.1002/mrm.22055 Pasternak, 2012, Estimation of extracellular volume from regularized multi-shell diffusion MRI, 305 Pierpaoli, C., Walker, L., Irfanoglu, M., et al. TORTOISE: an integrated software package for processing of diffusion MRI data. ISMRM 18th Annual Meeting; 2010; Stockholm, Sweden. Pierpaoli, 1996, Diffusion tensor MR imaging of the human brain, Radiology, 201, 637, 10.1148/radiology.201.3.8939209 Pierpaoli, 2004, Removing CSF contamination in brain DT-MRIs by using a two-compartment tensor model, Int. Soc. Magn. Reson. Med. Meet., 1215 Pintzka, 2015, Marked effects of intracranial volume correction methods on sex differences in neuroanatomical structures: a HUNT MRI study, Front. Neurosci., 9, 238, 10.3389/fnins.2015.00238 Rüb, 2005, Spinocerebellar ataxia type 7 (SCA7): first report of a systematic neuropathological study of the brain of a patient with a very short expanded CAG-repeat, Brain Pathol., 15, 287, 10.1111/j.1750-3639.2005.tb00113.x Rüb, 2008, Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments, Neuropathol. Appl. Neurobiol., 34, 155, 10.1111/j.1365-2990.2007.00882.x Rüb, 2013, Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7, Prog. Neurobiol., 104, 38, 10.1016/j.pneurobio.2013.01.001 Sadeghi, 2018, Tensor-based morphometry using scalar and directional information of diffusion tensor MRI data (DTBM): application to hereditary spastic paraplegia, Hum. Brain Mapp., 39, 4643, 10.1002/hbm.24278 Sarlls, 2011, Robust fat suppression at 3T in high-resolution diffusion-weighted single-shot echo-planar imaging of human brain, Magn. Reson. Med., 66, 1658, 10.1002/mrm.22940 Schmitz-Hübsch, 2006, Scale for the assessment and rating of ataxia, Develop. New Clin. Scale, 66, 1717 Senjem, 2005, Comparison of different methodological implementations of voxel-based morphometry in neurodegenerative disease, NeuroImage, 26, 600, 10.1016/j.neuroimage.2005.02.005 Sexton, 2014, Accelerated changes in white matter microstructure during aging: a longitudinal diffusion tensor imaging study, J. Neurosci., 34, 15425, 10.1523/JNEUROSCI.0203-14.2014 Smith, 2004, Advances in functional and structural MR image analysis and implementation as FSL, NeuroImage, 23, S208, 10.1016/j.neuroimage.2004.07.051 Sofroniew, 2014, Astrogliosis, Cold Spring Harb. Perspect. Biol., 7, 10.1101/cshperspect.a020420 Stoyas, 2020, Nicotinamide pathway-dependent sirt1 activation restores calcium homeostasis to achieve neuroprotection in spinocerebellar ataxia type 7, Neuron, 105, 630, 10.1016/j.neuron.2019.11.019 Sullivan, 2006, Diffusion tensor imaging and aging, Neurosci. Biobehav. Rev., 30, 749, 10.1016/j.neubiorev.2006.06.002 Taylor, 2013, FATCAT: (an efficient) functional and tractographic connectivity analysis toolbox, Brain Connect., 3, 523, 10.1089/brain.2013.0154 Thomas, 2018, Impact of time-of-day on diffusivity measures of brain tissue derived from diffusion tensor imaging, NeuroImage, 173, 25, 10.1016/j.neuroimage.2018.02.026 Winkler, 2014, Permutation inference for the general linear model, NeuroImage, 92, 381, 10.1016/j.neuroimage.2014.01.060