Enlargement of peripheral nerves in Krabbe disease: The diagnostic value of nerve ultrasound

Küpper, Hanna; Kaiser, Nadja; Winter, Natalie; Kehrer, Christiane; Groeschel, Samuel; Bevot, Andrea; Nägele, Thomas; Krägeloh‐Mann, Ingeborg; Grimm, Alexander

doi:10.1002/mus.26822

Cited by 3 publications

(2 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Inflammatory polyneuropathies, such as CIDP and atypical CIDPs, tend to show focal nerve swelling with some predominant fascicles [ 2 , 3 , 6 ]. Hereditary polyneuropathies, such as Charcot–Marie–Tooth Type 1 or storage diseases like leukodystrophies, adrenoleukodystrophies, xantochromatosis, or glucocerebrosidosis [ 15 – 17 , 32 , 43 ], mainly show ubiquitous nerve swelling, as would be expected in ARSACS patients per se. Our knowledge on nerve ultrasound as a biomarker in neurodegenerative diseases still lacks data.…”

Section: Discussionmentioning

confidence: 93%

Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound

Kneer,

Straub,

Wittlinger

et al. 2024

J Neurol

Self Cite

View full text Add to dashboard Cite

Background To specify peripheral nerve affection in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) by correlating high-resolution nerve ultrasound and nerve conduction studies. Methods We assessed a cohort of 11 ARSACS patients with standardized nerve conduction studies and high-resolution ultrasound of peripheral nerves and compared nerve ultrasound findings to a healthy control group matched for age, sex, size and weight. Results Mean age of patients was 39.0 (± 14.1) years and disease duration at assessment 30.6 (± 12.5) years. All patients presented with a spasticity, ataxia and peripheral neuropathy. Neuropathy appeared to be primarily demyelinating in 9/11 cases and was not classifiable in 2/11 cases due to not evocable potentials. Nerve ultrasound revealed a normal ultrasound pattern sum score (UPSS) in each ARSACS patient and no significant nerve enlargement compared to the control group. Conclusions Peripheral neuropathy in ARSACS showed primarily demyelinating rather than axonal characteristics and presented without nerve enlargement. As demyelinating neuropathies do commonly present enlarged nerves we recommend further genetic testing of the SACS gene in patients who present with this combination of demyelinating neuropathy without nerve enlargement. ARSACS cases that initially presented only with neuropathy without spasticity or ataxia and therefore were misdiagnosed as Charcot-Marie-Tooth disease are supporting this suggestion.

show abstract

Section: Discussionmentioning

confidence: 93%

Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound

Kneer,

Straub,

Wittlinger

et al. 2024

J Neurol

Self Cite

View full text Add to dashboard Cite

show abstract

“…A similar picture has been reported on a single patient with adolescent onset. 7 Recent literature identified nerve enlargement on HRUS as a sen- None of the authors has any conflict of interest to disclose.…”

mentioning

confidence: 99%

Peripheral nerve enlargement on nerve ultrasound parallels neuropathological changes in adult‐onset Krabbe disease

et al. 2021

View full text Add to dashboard Cite

show abstract

Nerve Ultrasound as Helpful Tool in Polyneuropathies

et al. 2021

Self Cite

View full text Add to dashboard Cite

Background: Polyneuropathies (PNP) are a broad field of diseases affecting millions of people. While the symptoms presented are mostly similar, underlying causes are abundant. Thus, early identification of treatable causes is often difficult. Besides clinical data and basic laboratory findings, nerve conduction studies are crucial for etiological classification, yet limited. Besides Magnetic Resonance Imaging (MRI), high-resolution nerve ultrasound (HRUS) has become a noninvasive, fast, economic and available tool to help distinguish different types of nerve alterations in neuropathies. Methods: We aim to describe typical ultrasound findings in PNP and patterns of morphological changes in hereditary, immune-mediated, diabetic, metabolic and neurodegenerative PNP. Literature research was performed in PubMed using the terms ‘nerve ultrasound’, neuromuscular ultrasound, high-resolution nerve ultrasound, peripheral nerves, nerve enlargement, demyelinating, hereditary, polyneuropathies, hypertrophy’. Results: Plenty of studies over the past 20 years investigated the value of nerve ultrasound in different neuropathies. Next to nerve enlargement, patterns of nerve enlargement, echointensity, vascularization and elastography have been evaluated for diagnostic terms. Furthermore, different scores have been developed to distinguish different etiologies of PNP. Conclusions: Where morphological alterations of the nerves reflect underlying pathologies, early nerve ultrasound might enable a timely start of available treatment and also facilitate follow up of therapy success.

show abstract

Enlargement of peripheral nerves in Krabbe disease: The diagnostic value of nerve ultrasound

Cited by 3 publications

References 12 publications

Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound

Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound

Peripheral nerve enlargement on nerve ultrasound parallels neuropathological changes in adult‐onset Krabbe disease

Nerve Ultrasound as Helpful Tool in Polyneuropathies

Contact Info

Product

Resources

About