Length‐dependent MRI of hereditary neuropathy with liability to pressure palsies

Annals of Clinical and Translational Neurology - Tập 7 Số 1 - Trang 15-25 - 2020
Michael Pridmore1, Ryan Castoro2, Megan Simmons McCollum3, Hakmook Kang4, Jun Li5, Richard D. Dortch6,7,1
1Vanderbilt University Institute of Imaging Science, Vanderbilt University Medical Center, Nashville, Tennessee, USA
2Department of Neurology, Division of Neuromuscular Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
3Department of Neurology; Vanderbilt University Medical Center; Nashville, Tennessee, USA
4Department of Biostatistics, Vanderbilt University, Nashville, Tennessee, USA.
5Department of Neurology; Wayne State University School of Medicine; Detroit, Michigan USA.
6Department of Biomedical Engineering, Vanderbilt University, Nashville, Tennessee USA
7Department of Radiology and Radiological Sciences, Vanderbilt University Medical Center, Nashville, Tennessee, USA

Tóm tắt

AbstractObjectiveHereditary neuropathy with liability to pressure palsies (HNPP) is caused by heterozygous deletion of theperipheral myelin protein 22 (PMP22)gene. Patients with HNPP present multifocal, reversible sensory/motor deficits due to increased susceptibility to mechanical pressure. Additionally, age‐dependent axonal degeneration is reported. We hypothesize that length‐dependent axonal loss can be revealed by MRI, irrespective of the multifocal phenotype in HNPP.MethodsNerve and muscle MRI data were acquired in the proximal and distal leg of patients with HNPP (n = 10) and matched controls (n = 7). More specifically, nerve magnetization transfer ratios (MTR) were evaluated to assay proximal‐to‐distal gradients in nerve degeneration, while intramuscular fat percentages (Fper) were evaluated to assay muscle fat replacement following denervation. Neurological disabilities were assessed via the Charcot‐Marie‐Tooth neuropathy score (CMTNS) for correlation with MRI.ResultsFpervalues were elevated in HNPP proximal muscle (9.8 ± 2.2%,P = 0.01) compared to controls (6.9 ± 1.0%). We observed this same elevation of HNPP distal muscles (10.5 ± 2.5%,P < 0.01) relative to controls (6.3 ± 1.1%). Additionally, the amplitude of the proximal‐to‐distal gradient inFperwas more significant in HNPP patients than controls (P < 0.01), suggesting length‐dependent axonal loss. In contrast, nerve MTR values were similar between HNPP subjects (sciatic/tibial nerves = 39.4 ± 2.0/34.2 ± 2.5%) and controls (sciatic/tibial nerves = 37.6 ± 3.8/35.5 ± 1.2%). Proximal muscleFpervalues were related to CMTNS (r = 0.69,P = 0.03), while distal muscleFperand sciatic/tibial nerve MTR values were not related to disability.InterpretationDespite the multifocal nature of the HNPP phenotype, muscleFpermeasurements relate to disability and exhibit a proximal‐to‐distal gradient consistent with length‐dependent axonal loss, suggesting thatFpermay be a viable biomarker of disease progression in HNPP.

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Tài liệu tham khảo

10.1007/s12035-012-8370-x

10.1136/jnnp.68.4.483

10.1212/01.wnl.0000216104.34658.82

10.1093/brain/123.7.1516

BirdTD.Hereditary neuropathy with liability to pressure palsies clinical characteristics clinical description.2019:1–12.

Vinci P, 2008, Perplexity about the use of the Charcot‐Marie‐Tooth neuropathy score in rehabilitation, Eur J Phys Rehabil Med, 44, 473

10.1002/ana.20202

10.1002/mrm.1910290607

10.1016/j.nurt.2007.05.004

10.1212/WNL.0000000000000919

10.1016/S1474-4422(15)00242-2

10.1016/j.mri.2015.03.003

10.1002/nbm.3159

10.1002/mrm.1910370426

10.1212/WNL.58.12.1769

10.1002/ana.24776

MATLAB® statistics and machine learning toolbox release 2017a

MATLAB® curve fitting toolbox release 2017a

SmithDS BerglundJ KullbergJ.Optimization of fat‐water separation algorithm selection and options using image‐based metrics with validation by.21st Annu. Sci. Meet. ISMRM Abstr. #2413.2013.

10.1371/journal.pgen.1006290

10.1034/j.1600-0404.2003.00132.x

10.1001/archneur.64.7.974

10.1385/NMM:8:1-2:3

10.5435/00124635-200407000-00008

10.1007/s10072-009-0202-z

10.1001/jamaneurol.2013.3178

10.1002/jmri.22431

Ortega X, 2016, Variability of muscle fat fraction quantification in MRI using the Dixon technique, Imágenes Pediátricas, 22, 149

10.3389/fendo.2016.00069

10.1007/s40520-016-0556-z

10.1007/s00330-014-3145-6

10.1016/j.nmd.2008.05.012

10.1007/s12603-010-0081-2

10.1002/nbm.951

10.1073/pnas.1801788115

10.1002/nbm.683

Ropele S, 2000, A comparison of magnetization transfer ratio, magnetization transfer rate, and the native relaxation time of water protons related to relapsing‐remitting multiple sclerosis, AJNR Am J Neuroradiol, 21, 1885

Manzanera I, 2018, Quantitative MRI of nerve pathology in mouse models of CMT1A and HNPP (P1.453), Neurology, 90, P1.453, 10.1212/WNL.90.15_supplement.P1.453

Lichtenstein T, 2016, MRI biomarkers of proximal nerve injury in CIDP, Ann Clin Transl Neurol, 5, 1

10.1097/RLI.0000000000000455

10.1002/dneu.22552

10.1002/ana.25068

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Annals of Clinical and Translational Neurology

Tập 7 Số 1

15-25

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