Peripheral Nerve Involvement in Friedreich's Ataxia Characterized by Quantitative Magnetic Resonance Neurography
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2025
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| author | Heike Jacobi Markus Weiler Georges Sam Sabine Heiland John M. Hayes Martin Bendszus Wolfgang Wick Jennifer C. Hayes |
| author_facet | Heike Jacobi Markus Weiler Georges Sam Sabine Heiland John M. Hayes Martin Bendszus Wolfgang Wick Jennifer C. Hayes Heike Jacobi Markus Weiler Georges Sam Sabine Heiland John M. Hayes Martin Bendszus Wolfgang Wick Jennifer C. Hayes |
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| contents | Peripheral Nerve Involvement in Friedreich's Ataxia Characterized by Quantitative Magnetic Resonance Neurography Heike Jacobi Markus Weiler Georges Sam Sabine Heiland John M. Hayes Martin Bendszus Wolfgang Wick Jennifer C. Hayes European Journal of Neurology ABSTRACTBackgroundFriedreich's ataxia (FRDA) affects both the central and peripheral nervous system. Peripheral nerve involvement manifests predominantly as a progressive sensory neuropathy caused by dorsal root ganglionopathy. An additional direct involvement of peripheral nerves leading to abnormal myelination is increasingly discussed. Here, we characterize lower extremity peripheral nerve involvement in FRDA by quantitative magnetic resonance neurography (MRN).MethodsSixteen genetically confirmed FRDA patients and 16 age‐/sex‐matched controls were prospectively enrolled. Patients underwent neurologic examinations and nerve conduction studies (NCS). Large‐coverage MRN of sciatic and tibial nerves was conducted utilizing dual‐echo turbo‐spin‐echo sequences with spectral fat saturation for T2‐relaxometry, and two gradient‐echo sequences with and without off‐resonance saturation rapid frequency pulses for magnetization transfer contrast imaging. Microstructural and morphometric MRN markers including T2‐relaxation time (T2app), proton spin density (ρ), magnetization transfer ratio (MTR), and cross‐sectional area (CSA) were calculated to characterize nerve lesions.ResultsTibial nerve ρ and T2app were markedly decreased in FRDA at the thigh (ρ: 368.4 ± 11.0 a.u.; T2app: 59.5 ± 1.8 ms) and lower leg (ρ: 337.3 ± 12.6 a.u.; T2app: 53.9 ± 1.4 ms) versus controls (thigh, ρ: 458.9 ± 9.5 a.u., p < 0.0001; T2app: 66.3 ± 0.8 ms, p = 0.0019; lower leg, ρ: 449.9 ± 12.1 a.u., p < 0.0001; T2app: 62.4 ± 1.2 ms, p < 0.0001) and correlated well with clinical scores, disease duration, and NCS. MTR and CSA did not differentiate between FRDA and controls.ConclusionOur study results provide a profound characterization of peripheral nerve involvement in FRDA. The identified good correlation between ρ and T2app with clinical symptom scores and NCS suggests that parameters of T2 relaxometry may become relevant biomarkers to monitor disease progression and therapeutic responses in potential future clinical trials. 10.1111/ene.70121 http://creativecommons.org/licenses/by/4.0/ |
| doi_str_mv | 10.1111/ene.70121 |
| format | Artículo Open Access |
| id | wiley_oa_10_1111_ene_70121 |
| institution | Wiley Open Access |
| license_str_mv | http://creativecommons.org/licenses/by/4.0/ |
| publishDate | 2025 |
| publisher | Wiley |
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| spellingShingle | Peripheral Nerve Involvement in Friedreich's Ataxia Characterized by Quantitative Magnetic Resonance Neurography Heike Jacobi Markus Weiler Georges Sam Sabine Heiland John M. Hayes Martin Bendszus Wolfgang Wick Jennifer C. Hayes European Journal of Neurology Peripheral Nerve Involvement in Friedreich's Ataxia Characterized by Quantitative Magnetic Resonance Neurography Heike Jacobi Markus Weiler Georges Sam Sabine Heiland John M. Hayes Martin Bendszus Wolfgang Wick Jennifer C. Hayes European Journal of Neurology ABSTRACTBackgroundFriedreich's ataxia (FRDA) affects both the central and peripheral nervous system. Peripheral nerve involvement manifests predominantly as a progressive sensory neuropathy caused by dorsal root ganglionopathy. An additional direct involvement of peripheral nerves leading to abnormal myelination is increasingly discussed. Here, we characterize lower extremity peripheral nerve involvement in FRDA by quantitative magnetic resonance neurography (MRN).MethodsSixteen genetically confirmed FRDA patients and 16 age‐/sex‐matched controls were prospectively enrolled. Patients underwent neurologic examinations and nerve conduction studies (NCS). Large‐coverage MRN of sciatic and tibial nerves was conducted utilizing dual‐echo turbo‐spin‐echo sequences with spectral fat saturation for T2‐relaxometry, and two gradient‐echo sequences with and without off‐resonance saturation rapid frequency pulses for magnetization transfer contrast imaging. Microstructural and morphometric MRN markers including T2‐relaxation time (T2app), proton spin density (ρ), magnetization transfer ratio (MTR), and cross‐sectional area (CSA) were calculated to characterize nerve lesions.ResultsTibial nerve ρ and T2app were markedly decreased in FRDA at the thigh (ρ: 368.4 ± 11.0 a.u.; T2app: 59.5 ± 1.8 ms) and lower leg (ρ: 337.3 ± 12.6 a.u.; T2app: 53.9 ± 1.4 ms) versus controls (thigh, ρ: 458.9 ± 9.5 a.u., p < 0.0001; T2app: 66.3 ± 0.8 ms, p = 0.0019; lower leg, ρ: 449.9 ± 12.1 a.u., p < 0.0001; T2app: 62.4 ± 1.2 ms, p < 0.0001) and correlated well with clinical scores, disease duration, and NCS. MTR and CSA did not differentiate between FRDA and controls.ConclusionOur study results provide a profound characterization of peripheral nerve involvement in FRDA. The identified good correlation between ρ and T2app with clinical symptom scores and NCS suggests that parameters of T2 relaxometry may become relevant biomarkers to monitor disease progression and therapeutic responses in potential future clinical trials. 10.1111/ene.70121 http://creativecommons.org/licenses/by/4.0/ |
| title | Peripheral Nerve Involvement in Friedreich's Ataxia Characterized by Quantitative Magnetic Resonance Neurography |
| topic | European Journal of Neurology |
| url | https://onlinelibrary.wiley.com/doi/10.1111/ene.70121 |