Peripheral Nerve Involvement in Friedreich's Ataxia Characterized by Quantitative Magnetic Resonance Neurography

IF 4.5 2区医学 Q1 CLINICAL NEUROLOGY

European Journal of Neurology Pub Date : 2025-03-25 DOI:10.1111/ene.70121

Heike Jacobi, Markus Weiler, Georges Sam, Sabine Heiland, John M. Hayes, Martin Bendszus, Wolfgang Wick, Jennifer C. Hayes

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引用次数: 0

Abstract

Background

Friedreich'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).

Methods

Sixteen 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 (T2_app), proton spin density (ρ), magnetization transfer ratio (MTR), and cross-sectional area (CSA) were calculated to characterize nerve lesions.

Results

Tibial nerve ρ and T2_app were markedly decreased in FRDA at the thigh (ρ: 368.4 ± 11.0 a.u.; T2_app: 59.5 ± 1.8 ms) and lower leg (ρ: 337.3 ± 12.6 a.u.; T2_app: 53.9 ± 1.4 ms) versus controls (thigh, ρ: 458.9 ± 9.5 a.u., p < 0.0001; T2_app: 66.3 ± 0.8 ms, p = 0.0019; lower leg, ρ: 449.9 ± 12.1 a.u., p < 0.0001; T2_app: 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.

Conclusion

Our study results provide a profound characterization of peripheral nerve involvement in FRDA. The identified good correlation between ρ and T2_app 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.

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来源期刊

European Journal of Neurology 医学-临床神经学

CiteScore

9.70

自引率

2.00%

发文量

418

审稿时长

1 months

期刊介绍： The European Journal of Neurology is the official journal of the European Academy of Neurology and covers all areas of clinical and basic research in neurology, including pre-clinical research of immediate translational value for new potential treatments. Emphasis is placed on major diseases of large clinical and socio-economic importance (dementia, stroke, epilepsy, headache, multiple sclerosis, movement disorders, and infectious diseases).