Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)

References

• de Souza PVS, de Rezende Pinto WBV, de Rezende Batistella GN, Bortholin T, Oliveira ASB. Hereditary spastic paraplegia: clinical and genetic hallmarks. Cerebellum. 2017;16:525–51.
   PubMed Web of Science ®Google Scholar
• Kadnikova VA, Ryzhkova OP, Rudenskaya GE, Polyakov AV. Molecular genetic diversity and DNA diagnostics of hereditary spastic paraplegia. Biol Bull Rev. 2019;9:145–56.
   Google Scholar
• List J, Kohl Z, Winkler J, Marxreiter F, Doerfler A, Schmidt MA. Ascending axonal degeneration of the corticospinal tract in pure hereditary spastic paraplegia: a cross-sectional DTI study. Brain Sci 2019;9:268.
   Web of Science ®Google Scholar
• Da Graça FF, De Rezende TJR, Vasconcellos LFR, Pedroso JL, Barsottini OGP, França MC. Neuroimaging in hereditary spastic paraplegias: current use and future perspectives. Front Neurol 2019;10:1117.
   PubMedGoogle Scholar
• Jeurissen B, Tournier JD, Dhollander T, Connelly A, Sijbers J. Multi-tissue constrained spherical deconvolution for improved analysis of multi-shell diffusion MRI data. Neuroimage. 2014;103:411–26.
   PubMed Web of Science ®Google Scholar
• Hui ES, Cheung MM, Qi L, Wu EX. Towards better MR characterization of neural tissues using directional diffusion kurtosis analysis. Neuroimage. 2008;42:122–34.
   PubMed Web of Science ®Google Scholar
• Zhang H, Schneider T, Wheeler-Kingshott CA, Alexander DC. NODDI: practical in vivo neurite orientation dispersion and density imaging of the human brain. Neuroimage. 2012;61:1000–16.
   PubMed Web of Science ®Google Scholar
• Raffelt DA, Tournier JD, Smith RE, Vaughan DN, Jackson G, Ridgway GR, et al. Investigating white matter fibre density and morphology using fixel-based analysis. Neuroimage. 2017;144:58–73.
   PubMed Web of Science ®Google Scholar
• Gajamange S, Raffelt D, Dhollander T, Lui E, van der Walt A, Kilpatrick T, et al. Fibre-specific white matter changes in multiple sclerosis patients with optic neuritis. Neuroimage Clin. 2018;17:60–8.
   PubMed Web of Science ®Google Scholar
• Li Y, Guo T, Guan X, Gao T, Sheng W, Zhou C, et al. Fixel-based analysis reveals fiber-specific alterations during the progression of Parkinson’s disease. NeuroImage Clin. 2020;27:102355.
   PubMed Web of Science ®Google Scholar
• Faber I, Martinez ARM, de Rezende TJR, Martins CR, Martins MP, Lourenço CM, et al. SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage. NeuroImage Clin. 2018;19:848–57.
   PubMed Web of Science ®Google Scholar
• França MC, Yasuda CL, Pereira FRS, D'Abreu A, Lopes-Ramos CM, Rosa MV, et al. White and grey matter abnormalities in patients with SPG11 mutations. J Neurol Neurosurg Psychiatry. 2012;83:828–33.
   PubMed Web of Science ®Google Scholar
• Agosta F, Scarlato M, Spinelli EG, Canu E, Benedetti S, Bassi MT, et al. Hereditary spastic paraplegia: beyond clinical phenotypes toward a unified pattern of central nervous system damage. Radiology. 2015;276:207–18.
   PubMed Web of Science ®Google Scholar
• Kassubek J, Juengling FD, Baumgartner A, Unrath A, Ludolph AC, Sperfeld AD. Different regional brain volume loss in pure and complicated hereditary spastic paraparesis: a voxel-based morphometric study. Amyotroph Lateral Scler. 2007;8:328–36.
   PubMed Web of Science ®Google Scholar
• Rezende TJR, De Albuquerque M, Lamas GM, Martinez ARM, Campos BM, Casseb RF, et al. Multimodal MRI-based study in patients with SPG4 mutations. PLOS One. 2015;10:e0117666.
   PubMed Web of Science ®Google Scholar
• Lindig T, Bender B, Hauser TK, Mang S, Schweikardt D, Klose U, et al. Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations. J Neurol. 2015;262:1961–71.
   PubMed Web of Science ®Google Scholar
• Lin JZ, Zheng HH, Ma QL, Wang C, Fan LP, Wu HM, et al. Cortical damage associated with cognitive and motor impairment in hereditary spastic paraplegia: evidence of a novel SPAST mutation. Front Neurol. 2020;11:399.
   PubMed Web of Science ®Google Scholar
• Montanaro D, Vavla M, Frijia F, Aghakhanyan G, Baratto A, Coi A, et al. Multimodal MRI longitudinal assessment of white and gray matter in different SPG types of hereditary spastic paraparesis. Front Neurosci. 2020;14:325.
   PubMed Web of Science ®Google Scholar
• Álvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, et al., The Group for the Study of the Genetics of Spastic Paraplegia*. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. BMC Neurol. 2010;10:89.
   PubMed Web of Science ®Google Scholar
• Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, et al. Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. Arch Neurol. 2006;63:750–5.
   PubMedGoogle Scholar
• Falco M, Scuderi C, Musumeci S, Sturnio M, Neri M, Bigoni S, et al. Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. Neuromuscul Disord. 2004;14:750–3.
   PubMed Web of Science ®Google Scholar
• Depienne C, Fedirko E, Faucheux JM, Forlani S, Bricka B, Goizet C, et al. A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP. Neurogenetics. 2007;8:231–3.
   PubMed Web of Science ®Google Scholar
• Schickel J, Beetz C, Frömmel C, Heide G, Sasse A, Hemmerich P, et al. Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin). Neurology. 2006;66:421–3.
   PubMed Web of Science ®Google Scholar
• Schüle R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V, et al. The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology. 2006;67:430–4.
   PubMed Web of Science ®Google Scholar
• Folstein MF, Folstein SE, McHugh PR. “Mini-mental state”. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975;12:189–98.
   PubMed Web of Science ®Google Scholar
• Schmitz-Hübsch T, Du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66:1717–20.
   PubMed Web of Science ®Google Scholar
• Tournier JD, Smith R, Raffelt D, Tabbara R, Dhollander T, Pietsch M, et al. MRtrix3: A fast, flexible and open software framework for medical image processing and visualisation. Neuroimage. 2019;202:116137.
   PubMed Web of Science ®Google Scholar
• Tustison NJ, Avants BB, Cook PA, Zheng Y, Egan A, Yushkevich PA, et al. N4ITK: Improved N3 bias correction. IEEE Trans Med Imaging. 2010;29:1310–20.
   PubMed Web of Science ®Google Scholar
• Avants BB, Epstein CL, Grossman M, Gee JC. Symmetric diffeomorphic image registration with cross-correlation: evaluating automated labeling of elderly and neurodegenerative brain. Med Image Anal. 2008;12:26–41.]
   PubMed Web of Science ®Google Scholar
• Tournier JD, Calamante F, Connelly A. Determination of the appropriate b value and number of gradient directions for high-angular-resolution diffusion-weighted imaging. NMR Biomed. 2013;26:1775–86.
   PubMed Web of Science ®Google Scholar
• Raffelt DA, Smith RE, Ridgway GR, Tournier JD, Vaughan DN, Rose S, et al. Connectivity-based fixel enhancement: Whole-brain statistical analysis of diffusion MRI measures in the presence of crossing fibres. Neuroimage. 2015;117:40–55.
   PubMed Web of Science ®Google Scholar
• Wasserthal J, Neher P, Maier-Hein KH. TractSeg – fast and accurate white matter tract segmentation. Neuroimage. 2018;183:239–53.
   PubMed Web of Science ®Google Scholar
• Fischl B, Dale AM. Measuring the thickness of the human cerebral cortex from magnetic resonance images. Proc Natl Acad Sci USA. 2000;97:11050–5.
   PubMed Web of Science ®Google Scholar
• Desikan RS, Ségonne F, Fischl B, Quinn BT, Dickerson BC, Blacker D, et al. An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest. Neuroimage. 2006;31:968–80.
   PubMed Web of Science ®Google Scholar
• Hagler DJ, Saygin AP, Sereno MI. Smoothing and cluster thresholding for cortical surface-based group analysis of fMRI data. Neuroimage. 2006;33:1093–103.
   PubMed Web of Science ®Google Scholar
• Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc Ser B. 1995;57:289–300.
   Web of Science ®Google Scholar
• DeLuca GC, Ebers GC, Esiri MM. The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol Appl Neurobiol. 2004;30:576–84.
   PubMed Web of Science ®Google Scholar
• SCHWARZ GA, LIU CN. Hereditary (familial) spastic paraplegia; further clinical and pathologic observations. AMA Arch Neurol Psychiatry. 1956;75:144–62.
   PubMedGoogle Scholar
• Tarrade A, Fassier C, Courageot S, Charvin D, Vitte J, Peris L, et al. A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Hum Mol Genet. 2006;15:3544–58.
   PubMed Web of Science ®Google Scholar
• Wharton SB, McDermott CJ, Grierson AJ, Wood JD, Gelsthorpe C, Ince PG, et al. The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene. J Neuropathol Exp Neurol. 2003;62:1166–77.
   PubMed Web of Science ®Google Scholar
• Perlson E, Maday S, Fu M. m, Moughamian AJ, Holzbaur ELF. Retrograde axonal transport: pathways to cell death? Trends Neurosci. 2010;33:335–44.
   PubMed Web of Science ®Google Scholar
• Rishal I, Fainzilber M. Axon-soma communication in neuronal injury. Nat Rev Neurosci. 2014;15:32–42.
   PubMed Web of Science ®Google Scholar
• White KD, Ince PG, Lusher M, Lindsey J, Cookson M, Bashir R, et al. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology. 2000;55:89–94.
   PubMed Web of Science ®Google Scholar
• Benito-León J, Serrano JI, Louis ED, Holobar A, Romero JP, Povalej-Bržan P, et al. Essential tremor severity and anatomical changes in brain areas controlling movement sequencing. Ann Clin Transl Neurol. 2019;6:83–97.
   PubMed Web of Science ®Google Scholar
• Ben-Shabat E, Matyas TA, Pell GS, Brodtmann A, Carey LM. The right supramarginal gyrus is important for proprioception in healthy and stroke-affected participants: a functional MRI study. Front Neurol 2015;6. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4668288/
   PubMed Web of Science ®Google Scholar
• Fogassi L, Ferrari PF, Gesierich B, Rozzi S, Chersi F, Rizzolatti G. Neuroscience: parietal lobe: From action organization to intention understanding. Science. 2005;308:662–7.
   PubMed Web of Science ®Google Scholar
• Fogassi L, Luppino G. Motor functions of the parietal lobe. Curr Opin Neurobiol. 2005;15:626–31.
   PubMed Web of Science ®Google Scholar
• Chersi F, Ferrari PF, Fogassi L. Neuronal chains for actions in the parietal lobe: a computational model. PLOS One. 2011;6:e27652.
   PubMed Web of Science ®Google Scholar
• Rushworth MFS, Johansen-Berg H, Göbel SM, Devlin JT. The left parietal and premotor cortices: motor attention and selection. Neuroimage 2003;20(Suppl 1):S89–S100.
   PubMedGoogle Scholar
• Desmurget M, Reilly KT, Richard N, Szathmari A, Mottolese C, Sirigu A. Movement intention after parietal cortex stimulation in humans. Science. 2009;324:811–3.
   PubMed Web of Science ®Google Scholar
• Kelley S, Plass J, Bender AR, & Polk TA. Age-related differences in white matter: understanding tensor-based results using fixel-based analysis. Cerebral cortex (New York, N.Y.: 1991), 2021; 31(8): 3881–3898. https://doi.org/https://doi.org/10.1093/cercor/bhab056
   Google Scholar
• Toselli B, Tortora D, Severino M, Arnulfo G, Canessa A, Morana G, et al. Improvement in white matter tract reconstruction with constrained spherical deconvolution and track density mapping in low angular resolution data: a pediatric study and literature review. Front Pediatr. 2017;5:182.
   PubMed Web of Science ®Google Scholar