Ross syndrome: a rare or a misknown disorder of thermoregulation? A skin innervation study on 12 subjects

Nolano, Maria; Provitera, Vincenzo; Perretti, A.; Stancanelli, Annamaria; Saltalamacchia, Anna Maria; Donadio, Vincenzo; Manganelli, Fiore; Lanzillo, B.; Santoro, Lucio

doi:10.1093/brain/awl175

Cited by 121 publications

(101 citation statements)

References 28 publications

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“…The latter were asymptomatic subjects with diabetes. Members of the MN Neuropathy Association (79), at interview and by questionnaire, confirmed a previous diagnosis of neuropathy by a neurologist supplemented by EMG (61), nerve conduction study (61), or skin biopsy (6). All Salvatore Maugeri Foundation neuropathy subjects (16) had abnormal neurologic examination, nerve conduction studies, and skin biopsies.…”

Section: Subjectsmentioning

confidence: 99%

“…4 More recently, reduced MC density, distorted MC structure, focal thinning or loss of myelin, and short myelin internodes coupled with decreased sensitivity to touch have been reported. [5][6][7] Functional studies of touch conveyed by cutaneous mechanoreceptors in glabrous skin found that detection of small raised dots (bumps) on a smooth surface using the finger pad was signaled by MCs. 8,9 Based on these studies, we devised a simple device called the Bumps to quantify tactile sensitivity on the finger pads.…”

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confidence: 99%

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A new device to quantify tactile sensation in neuropathy

Kennedy¹,

Selim²,

Brink³

et al. 2011

Neurology

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Objective: To devise a rapid, sensitive method to quantify tactile threshold of finger pads for early detection and staging of peripheral neuropathy and for use in clinical trials.Methods: Subjects were 166 healthy controls and 103 patients with, or at risk for, peripheral neuropathy. Subjects were screened by questionnaire. The test device, the Bumps, is a checkerboard-like smooth surface with 12 squares; each square encloses 5 colored circles. The subject explores the circles of each square with the index finger pad to locate the one circle containing a small bump. Bumps in different squares have different heights. Detection threshold is defined as the smallest bump height detected. In some subjects, a 3-mm skin biopsy from the tested finger pad was taken to compare density of Meissner corpuscles (MCs) to bump detection thresholds. Results:The mean (ϮSEM) bump detection threshold for control subjects was 3.3 Ϯ 0.10 m.Threshold and test time were age related, older subjects having slightly higher thresholds and using more time. Mean detection threshold of patients with neuropathy (6.2 Ϯ 0.35 m) differed from controls (p Ͻ 0.001). A proposed threshold for identifying impaired sensation had a sensitivity of 71% and specificity of 74%. Detection threshold was higher when MC density was decreased. Conclusions:These preliminary studies suggest that the Bumps test is a rapid, sensitive, inexpensive method to quantify tactile sensation of finger pads. It has potential for early diagnosis of tactile deficiency in subjects suspected of having neuropathy, for staging degree of tactile deficit, and for monitoring change over time. Reduced tactile sensation (numbness) is a common symptom of patients with peripheral neuropathy. A need exists for efficient techniques to diagnose and quantify tactile deficiency early, when treatment has the greatest potential of success. Furthermore, evaluation of therapeutic benefits from advances in molecular biology, genetics, pharmacology, and other sciences will require more precise measurements than are currently available.Meissner corpuscles (MCs) are sensitive organs for touch recognition on glabrous skin of the hands and fingers. Early studies showed lower MC density in older persons 1-3 and in neuropathy. 4 More recently, reduced MC density, distorted MC structure, focal thinning or loss of myelin, and short myelin internodes coupled with decreased sensitivity to touch have been reported. [5][6][7] Functional studies of touch conveyed by cutaneous mechanoreceptors in glabrous skin found that detection of small raised dots (bumps) on a smooth surface using the finger pad was signaled by MCs. 8,9 Based on these studies, we devised a simple device called the Bumps to quantify tactile sensitivity on the finger pads. The Bumps test determines the tactile detection threshold by having the subject rub the finger pad over a smooth surface to locate single, coin-shaped bumps of different heights. Using this device, we found a difference in detection thresholds between control subject...

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Section: Subjectsmentioning

confidence: 99%

mentioning

confidence: 99%

A new device to quantify tactile sensation in neuropathy

Kennedy¹,

Selim²,

Brink³

et al. 2011

Neurology

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“…Similarly, degeneration of cholinergic fibres that innervate the sweat glands has been identified in the anhidrotic skin areas of patients with Ross syndrome 140 . This change, along with severe heat intolerance owing to the inability to sweat, could be used to distinguish patients with Ross syndrome from those with Holmes-Adie syndrome, who also exhibit sweating abnormalities 141 . The pathological abnormalities in patients with Ross syndrome were found to also involve the noradrenergic fibres that innervate arrector pilorum muscles and vessels, and, to a lesser extent, somatic unmyelinated and myelinated nerve fibres 141 .…”

Section: Stromamentioning

confidence: 99%

“…This change, along with severe heat intolerance owing to the inability to sweat, could be used to distinguish patients with Ross syndrome from those with Holmes-Adie syndrome, who also exhibit sweating abnormalities 141 . The pathological abnormalities in patients with Ross syndrome were found to also involve the noradrenergic fibres that innervate arrector pilorum muscles and vessels, and, to a lesser extent, somatic unmyelinated and myelinated nerve fibres 141 . Skin biopsies have also been used to examine autonomic innervation in multiple system atrophy.…”

Section: Stromamentioning

confidence: 99%

New technologies for the assessment of neuropathies

et al. 2017

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Peripheral neuropathies are among the most common neurological disorders 1 . In routine clinical practice, diagnosis of peripheral neuropathies is typically based on clinical assessment, nerve conduction studies and needle electromyography, which can determine whether symptoms are caused by primary axonal damage or demyelinating damage. This distinction is often relevant to therapeutic choices and to prognosis, as axonal damage typically reflects an inflammatory (for example, vasculitic) or degenerative (for example, hereditary or idiopathic) process that correlates with disability, whereas demyelinating damage can reflect a hereditary neuro pathy, but more often reflects an acquired immunemediated neuropathy. Besides metabolic, inflammatory or primary degenerative neuropathies, peripheral nerves can also be damaged by compression from adjacent tissue structures, such as tendons, cysts or haematomas. In this case, proper identification of the site, nature and degree of the lesion might be challenging, but is relevant to treatment and prognosis. Moreover, some patients present with symptoms that suggest damage to small nerve fibres, which nerve conduction studies cannot be used to detect.In the past 15 years, several techniques have become available to investigate focal and diffuse peripheral neuropathies, and their reliability has widened the spectrum of diagnostic tools for clinicians and improved assessment of neuropathies. In this Review, we provide an overview of these new and emerging technologies. We first discuss peripheral nerve imaging with MRI and ultrasonography, which can provide information about the precise localization of neuro pathies and the pathological processes involved in large-fibre neuropathies, and can complement clinical and electrophysiological evaluation. We then consider techniques that can provide diagnostic information when the pathological process is restricted to small nerve fibres and is consequently not detectable with nerve conduction studies or neuroimaging. These include skin biopsy, which is established in clinical practice, and the emerging techniques of corneal confocal microscopy, laser-evoked potentials and heat-related and pain-related evoked potentials, and microneurography.Nerve imaging technology Advances in imaging techniques have made it possible to gain great insight into nerve pathology with magnetic resonance and ultrasound. Each approach offers distinct advantages, and can provide different information about damage to large myelinated fibres. Abstract | Technical advances are rapidly changing the clinical and instrumental approach to peripheral nerve diseases. Magnetic resonance neurography, diffusion tensor imaging and nerve ultrasonography are increasingly entering the diagnostic workup of peripheral neuropathies as tools that complement neurophysiology and enable investigation of proximal structures, such as plexuses and roots. Progress in the design of magnetic resonance scanners and sequences, and the development of high-frequency ultrasound probes mean th...

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“…This emphasizes that skin biopsy is a tool to diagnose small fiber damage rather than neuropathic pain per se. Indeed, a profound skin denervation can be found also in hereditary sensory and autonomic neuropathy type IV with insensitivity to pain [27] as well as in Ross syndrome characterized by altered sweating but no pain complaints [28].…”

Section: Analysis Of Skin Nerve Fibersmentioning

confidence: 99%