Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease

Abstract

Although heterozygous, Fabry females show severe enlarged dorsal root ganglia with a concomitant dysfunctional perfusion, even in patients with minor disease progression and in patients who are not considered for enzyme replacement therapy yet. Alterations in dorsal root ganglia volume and perfusion might serve as a very early in vivo marker for involvement of the peripheral nervous system in Fabry disease, even in patients with residual enzyme activity.

T2 mapping of the distal sciatic nerve in healthy subjects and patients suffering from lumbar disc herniation with nerve compression

“…In the right column, the nerve signal decay is shown for the three sequences with the corresponding T2 fit incorporating all available TEs (black dotted line) or matched TEs (green dashed line). When the TEs are matched, a good agreement between magnetic resonance spectroscopy (MRS) and the 3D T2-prepared TSE sequence can be seen, whereas the T2 in the 2D MESE sequence is elevated regardless of TE selection or iatrogenic injury and tumors such as perineuriomas [5][6][7][8], Fabry disease [9][10][11], CMTD [12], or diabetic and other neuropathies [13,14]. Importantly, (semi-)quantitative MRN might be more objective and potentially more robust and reproducible when compared to mere qualitative MRN, with DTI, for instance, being capable of contributing with quantitatively assessable changes by means of diffusion parameters that have already been evaluated among patients with muscular disorders such as myotonic dystrophy [15], radiculopathy [16], CIDP [17], CMTD [18], or different Fig.…”

“…The sciatic nerve has regularly been under investigation by means of MRN. However, until recently, primarily qualitative MRN has been carried out, with the signal of the sciatic nerve or its morphology being altered in the context of different pathologic conditions such as traumatic or iatrogenic injury and tumors such as perineuriomas [ 5 – 8 ], Fabry disease [ 9 – 11 ], CMTD [ 12 ], or diabetic and other neuropathies [ 13 , 14 ]. Importantly, (semi-)quantitative MRN might be more objective and potentially more robust and reproducible when compared to mere qualitative MRN, with DTI, for instance, being capable of contributing with quantitatively assessable changes by means of diffusion parameters that have already been evaluated among patients with muscular disorders such as myotonic dystrophy [ 15 ], radiculopathy [ 16 ], CIDP [ 17 ], CMTD [ 18 ], or different kinds of neuropathies [ 19 – 21 ].…”

“…Using qualitative MRN and structural evaluations, the sciatic nerve has shown to be affected in various pathologies, such as hamstring injury due to different causes [5], injection injury after iatrogenic intramuscular infiltrations [6], injury related to hip replacement surgeries [7], perineuriomas [8], Fabry disease [9][10][11], hereditary motor and sensory neuropathies such as Charcot-Marie-Tooth disease (CMTD) [12], or diabetic and other neuropathies [13,14]. These studies conducted primarily visual inspections of the sciatic nerves to detect changes in signal intensities, discontinuities, or lesion loads, often together with evaluations of morphological nerve sizes and volumes [5][6][7][8][9][10][11][12][13][14].…”

Regional Differences in Tight Junction Protein Expression in the Blood–DRG Barrier and Their Alterations after Nerve Traumatic Injury in Rats

“…Indeed, alterations of DRG volume have been noted in chemotherapy-induced neuropathy, and two genetic diseases, Fabry disease and neurofibromatosis [44][45][46][47][48]. Alterations in the permeability at the blood tissue interface have been observed in long-standing Fabry disease in the NRR, indicating a concomitant dysfunctional DRG perfusion [47,48]. In the case of Fabry disease, this observation could to be the consequence of glycolipid accumulation.…”

<p>Stratification of patients with unclassified pain in the FabryScan database</p>

“…Many studies have demonstrated an impaired small fiber function which was quantified via neurophysiological methods (ie, pain-related evoked potentials), reduced nerve fiber density and Quantitative Sensory Testing 5,6. Recently, an in vivo morphometry and perfusion assessment of dorsal root ganglia indicated an enlargement as well as dysfunctional perfusion 7…”