Neuromuscular ultrasound as a marker for inherited sensory neuronopathy

Pelosi, Luciana; Alfen, Nens van

doi:10.1002/mus.27934

Muscle and Nerve

2023

DOI: 10.1002/mus.27934

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Neuromuscular ultrasound as a marker for inherited sensory neuronopathy

Luciana Pelosi

Nens van Alfen²

Abstract: A review and detailed analysis of the literature over the past two decades has revealed a unique ultrasound feature of pathologically “small” nerves in inherited sensory neuronopathies. Although sample sizes were limited, due to the rarity of these diseases, this characteristic ultrasound finding has been consistently reported across a variety of inherited diseases that affect the dorsal root ganglia. Direct comparisons with both acquired and inherited diseases that primarily affect the axons in the peripheral… Show more

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2024

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Cited by 5 publications

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Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions

Calezis,

Bonello‐Palot,

Verschueren

et al. 2024

Muscle and Nerve

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Introduction/AimsCerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is caused by RFC1 expansions. Sensory neuronopathy, polyneuropathy, and involvement of motor, autonomic, and cranial nerves have all been described with RFC1 expansions. We aimed to describe the electrodiagnostic features of patients with RFC1 expansions through multimodal electrophysiological investigations.MethodsThirty‐five patients, with a median age of 70 years, and pathologic biallelic repeat expansions in the RFC1 gene, were tested for motor and sensory nerve conduction, flexor carpi radialis (FCR) and soleus H‐reflexes, blink reflex, electrochemical skin conductance, sympathetic skin response (SSR), and heart rate variability with deep breathing (HRV).ResultsOnly 16 patients (46%) exhibited the full clinical CANVAS spectrum. Distal motor amplitudes were normal in 30 patients and reduced in the legs of five patients. Distal sensory amplitudes were bilaterally reduced in a non‐length dependent manner in 30 patients. Conduction velocities were normal. Soleus H‐reflexes were abnormal in 19/20 patients of whom seven had preserved Achilles reflexes. FCR H‐reflexes were absent or decreased in amplitude in 13/14 patients. Blink reflex was abnormal in 4/19 patients: R1 latencies for two patients and R2 latencies for two others. Fourteen out of 31 patients (45%) had abnormal results in at least one autonomic nervous system test, either for ESC (12/31), SSR (5/14), or HRV (6/19).DiscussionLess than half of the patients with RFC1 expansions exhibited the full clinical CANVAS spectrum, but nearly all exhibited typical sensory neuronopathy and abnormal H‐reflexes. Involvement of small nerve fibers and brainstem neurons was less common.

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Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions

Calezis,

Bonello‐Palot,

Verschueren

et al. 2024

Muscle and Nerve

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Lower limb nerve ultrasound: A four‐way comparison of acquired and inherited axonopathy, inherited neuronopathy and healthy controls

Pelosi,

Coraci,

Mulroy

et al. 2024

Muscle and Nerve

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Introduction/AimsIn a recent study, we showed that nerve ultrasound of the upper limbs could distinguish inherited sensory neuronopathy from inherited axonopathy; surprisingly, no differences were found in the lower limb nerves. In this study, we compared lower limb nerve ultrasound measurements in inherited neuronopathy, inherited axonopathy, and acquired axonopathy.MethodsTibial and sural nerve ultrasound cross‐sectional areas (CSAs) of 34 healthy controls were retrospectively compared with those of three patient groups: 17 with cerebellar ataxia with neuronopathy and vestibular areflexia syndrome (CANVAS), 18 with Charcot‐Marie‐Tooth type 2 (CMT2), and 18 with acquired length‐dependent sensorimotor axonal neuropathy, using ANOVA with post‐hoc Tukey honestly significance difference (HSD) (significance level set at p < .05).ResultsThe nerve CSAs of CANVAS and CMT2 patients were not significantly different. Both the tibial and the sural nerve CSAs were significantly smaller in CANVAS and CMT2 compared with the acquired axonal neuropathy group. Tibial nerve CSAs of CANVAS and CMT2 were significantly smaller than controls. Tibial and sural nerve CSAs of the acquired axonal neuropathy group were also significantly larger than the controls'.DiscussionUltrasound of the lower limb nerves distinguished inherited from acquired axonopathy with the nerve size respectively reduced and increased in these two groups. This has potential implication for the differential diagnosis of these diseases in clinical practice.

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The Role of Neuromuscular Ultrasound in the Diagnosis of Peripheral Neuropathy

Miller,

Meiling,

Cartwright

et al. 2024

Semin Neurol

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The classification of peripheral neuropathies has traditionally been based on etiology, electrodiagnostic findings, or histopathologic features. With the advent of modern imaging, they now can also be characterized based on their varied distribution of imaging findings. We describe the major morphologic patterns of these changes, which include homogeneous enlargement; homogeneous thinning; focal, multifocal, and segmental enlargement; and focal thinning and beading (multifocal thinning). Representative disorders in each of these categories are discussed, along with examples of the more complex imaging manifestations of neuralgic amyotrophy, nerve transection, and hereditary amyloidosis. An appreciation of the diverse morphologic manifestations of neuropathy can help neuromuscular clinicians conduct appropriate imaging studies with ultrasound and, when needed, order suitable investigations with magnetic resonance neurography.

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Neuromuscular ultrasound as a marker for inherited sensory neuronopathy

Cited by 5 publications

References 16 publications

Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions

Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions

Lower limb nerve ultrasound: A four‐way comparison of acquired and inherited axonopathy, inherited neuronopathy and healthy controls

The Role of Neuromuscular Ultrasound in the Diagnosis of Peripheral Neuropathy

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