•Sensitivity of electrophysiology and ultrasound in ulnar neuropathy was highly dependent on clinical severity.•Ultrasound increased the diagnostic yield in very mild and mild ...neuropathies.•Ultrasound localized all the ulnar neuropathies with abnormal non-localizing electrophysiology.
To assess the diagnostic performance of electrophysiology and nerve ultrasound in ulnar neuropathies of varying clinical severity in 135 consecutive patients.
Clinical severity of ulnar neuropathy was graded on a 4 point scale from very mild (symptoms only) to severe (marked atrophy of intrinsic hand muscles). Sensitivity and localization ability of electrophysiology and nerve ultrasound were assessed for each point of the scale.
Ultrasound had higher sensitivity than electrophysiology in clinically very mild (20% and 3% for ultrasound and electrophysiology, respectively) and mild (62% and 47% for ultrasound and electrophysiology, respectively) neuropathies, had greater localizing ability in axonal ulnar neuropathies, and identified nerve hypermobility.
Ultrasound nerve cross-sectional area had strong positive correlation with both clinical and electrophysiological severity scores, but with significant overlap across the severity groups.
The diagnostic work-up of ulnar neuropathies was improved by using both electrophysiology and ultrasound at all levels of clinical severity. Ultrasound increased the diagnostic yield in very mild and mild neuropathies, localized all the ulnar neuropathies with abnormal non-localizing electrophysiology and identified nerve hypermobility.
This is the first detailed analysis of the diagnostic performance of electrophysiology and ultrasound in ulnar neuropathies of varying severity.
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative disease with onset in mid- to late adulthood. The genetic basis for a ...large proportion of Caucasian patients was recently shown to be the biallelic expansion of a pentanucleotide (AAGGG)n repeat in RFC1. Here, we describe the first instance of CANVAS genetic testing in New Zealand Māori and Cook Island Māori individuals. We show a novel, possibly population-specific CANVAS configuration (AAAGG)10-25(AAGGG)exp, which was the cause of CANVAS in all patients. There were no apparent phenotypic differences compared with European CANVAS patients. Presence of a common disease haplotype among this cohort suggests this novel repeat expansion configuration is a founder effect in this population, which may indicate that CANVAS will be especially prevalent in this group. Haplotype dating estimated the most recent common ancestor at ∼1430 ce. We also show the same core haplotype as previously described, supporting a single origin of the CANVAS mutation.
ABSTRACT
Introduction: After noting inconsistent sonographic median nerve cross‐sectional area (CSA) enlargement at the wrist in very elderly patients with carpal tunnel syndrome (CTS), we ...systematically reviewed ultrasound, electrodiagnostic, and clinical data collected over a 12‐month period in patients from 2 age groups: 80–95 years and 40–65 years old. Methods: Clinical and electrodiagnostic CTS severity, sensitivity of ultrasound CSA (against both electrodiagnostic and clinical reference standards), and correlations between ultrasound CSA and clinical and electrodiagnostic severity were compared in both groups. Results: In very elderly patients, despite a higher prevalence of severe CTS, nerve ultrasound was less sensitive than in the younger group (54% vs. 87%, using clinical reference standard), and did not correlate with clinical (r = 0.28, P = 0.10) or electrodiagnostic (r = 0.09, P = 0.60) severity. Discussion: Median nerve ultrasound CSA at the wrist is not a sensitive marker of CTS in very elderly populations. In this work we detail and discuss potential pathophysiological underpinnings of this unexpected finding. Muscle Nerve, 2019
Introduction
In everyday clinical neurophysiology practice, mononeuropathies are evaluated primarily by traditional electrodiagnostic testing. We sought to assess the additional benefit of ...neuromuscular ultrasound (US) in this scenario.
Methods
All consecutive mononeuropathies undergoing combined US and electrodiagnostic evaluation over a 23‐mo period at a single neurophysiology practice were reviewed. Three independent examiners assessed how often US was: (a) “contributory” ‐ enabling a definite diagnosis not made by electrophysiology alone and/or impacting on the therapeutic decision, (b) “confirmatory” of the electrodiagnostic findings, but not adding further diagnostic or therapeutic information, or (c) “negative” ‐ missed the diagnosis.
Results
There were 385 studies included. US was “contributory” in 36%, “confirmatory” in 61% and “negative” in 3%.
Discussion
In this study of everyday neurophysiology practice, neuromuscular US contributed significant diagnostic or therapeutic information in over 1/3 of the investigations for common mononeuropathies. False negative US studies were uncommon in this setting.
See Editorial on pages 437–438 in this issue.
•Upper limb ultrasound is highly accurate in detecting sensory neuronopathy in cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS).•Diagnostic criteria for CANVAS also diagnosed ...sensory neuronopathy in spinocerebellar ataxia type 2.•Upper limb ultrasound may have a role in diagnosing sensory neuronopathy in spinocerebellar ataxias.
The objective was to assess if nerve ultrasound has a role in diagnosing sensory neuronopathy in spinocerebellar ataxia syndrome (SCA) by examining if proposed diagnostic cut-off criteria of ultrasound in sensory neuronopathy caused by cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS) were also discriminatory for SCA-related sensory neuronopathy.
Optimal diagnostic cut-off criteria for nerve size measured by diagnostic ultrasound were developed in 14 patients with CANVAS and 42 healthy controls using six peripheral nerve sites; and logistic regression and receiver operating characteristic (ROC) curves. These proposed cut-off values were tested in seven patients with spinocerebellar ataxia type 2 (SCA2) patients with sensory neuronopathy.
Ultrasound of upper limb nerves was highly accurate in differentiating between CANVAS and healthy controls with areas under the ROC curves between 0.97 and 0.99. Optimal cut-off measurements from the CANVAS patients also accurately diagnosed sensory neuronopathy in all patients with SCA2.
Upper limb ultrasound is a sensitive tool for detecting sensory neuronopathy in established cases of CANVAS and SCA2.
Ultrasound could aid the diagnosis of sensory neuronopathy in spinocerebellar ataxias.
PDF
