Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic
Open accessAbstract
OBJECTIVE: High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneuropathy (AMN) by HRUS. METHODS: Thirteen adults with genetically proven AMN were examined using the Ultrasound pattern sum score (UPSS) to evaluate morphological abnormalities of peripheral nerves, vagal nerves, as well as cervical nerve roots. Ultrasound results were correlated with clinical findings and nerve conduction studies. RESULTS: UPSS was increased in six out of 13 patients. Nerve enlargement was mostly inhomogeneous and regional. The median, ulnar, and vagal nerves presented with more prominent alterations than nerves of the lower limbs. The proximal-to-distal ratio was significantly enlarged for the median nerve. HRUS findings matched nerve conduction studies, but identified one patient with enlarged nerves and yet normal conduction velocities. Sonographic findings did not correlate with disease duration or disease severity as assessed by the spastic paraplegia rating scale. CONCLUSION: HRUS reveals significant multifocal regional nerve swellings with reduced echo intensity as the morphological equivalent of electrophysiological peripheral nerve affection in AMN patients. Ultrasound and NCS characteristics in AMN seem to differ from other demyelinating neuropathies like CIDP or CMT1a. TRIAL REGISTRATION: German clinical-trial-register (DRKS) ( DRKS-ID 00005253 ) Registered 15 October 2013.
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Peripheral neuropathy is a common feature of ALD but is rarely the presenting symptom.
“Peripheral neuropathy is a common feature of ALD but is rarely the presenting symptom.7,14-16”
From International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022) · cites this paper as [15]
The Results (page unavailable) say clinical signs of potential peripheral neuropathy were common in the studied AMN patients, supporting that part of the claim for this ALD phenotype. The Background describes AMN in adults with ALD, but neither it nor the retrieved passages say that neuropathy is rarely the presenting symptom of ALD. (LLM, conf=0.85)
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Research works printed but not linked: 22
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Cited by
Sorted by citations
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy
Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., et al. (2022) · Neurology · doi:10.1212/wnl.0000000000201374 · Cited by 156 · see citing works
Rattay, T. W., Rautenberg, M., Söhn, A. S., Hengel, H., Traschütz, A., Röben, B., Hayer, S. N., Schüle, R., Wiethoff, S., Zeltner, L., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-71248-8 · Cited by 61 · see citing works
Self-citation
- Authors
- Rattay, T. W., Just, J., Röben, B., Hengel, H., Schüle, R., Synofzik, M., Söhn, A. S., Winter, N., Dammeier, N., Schöls, L., & Grimm, A.
- Affiliations
- German Center for Neurodegenerative Diseases (DE)
- Universitätsklinikum Tübingen (DE)
- Hertie Institute for Clinical Brain Research (DE)
- Corresponding author
- Schöls, Ludger
- ORCID
- Venue
- Orphanet Journal of Rare Diseases
- Published
- 2018-11-03
- Volume
- 13
- Issue
- 1
- Pages
- 194-194
- ISSN
- 1750-1172 (ISSN-L)
- PMC
- PMC6215661
- OpenAlex
- W2898742613
- Cited by
- 14
- References
- 0
- Citations by year
- 2025: 2 · 2024: 4 · 2022: 1 · 2021: 3 · 2020: 3 · 2019: 1
- FWCI
- 0.80
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DZNE Pub (publishedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Medical Faculty of the University of Tübingen (#386-0, Fortune Program)
- Else Kröner Stiftung (EKMS.018)
- E-Rare Network Neurolipid (01GM1408B)
- NIH (5R01NS072248)
- DZNE (HSP Intersite Project)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Peripheral Nerve Disorders
- Health Sciences › Medicine › Neurology › Peripheral Neuropathies and Disorders
- Keywords
- adrenomyeloneuropathy, high-resolution nerve ultrasound, median nerve, ulnar nerve, vagus nerve, cervical nerve roots, nerve conduction studies, demyelinating neuropathy, spastic paraplegia
- MeSH terms
- Adrenoleukodystrophy, Adult, Humans, Neural Conduction, Peripheral Nerves, Ultrasonography, Genetic Diseases, X-Linked
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