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ABSTRACT: This study assessed the use of ultrasound in the diagnosis of carpal tunnel syndrome and to determine the best ultrasound criterion for diagnosis. Forty wrists of 27 patients with surgically proven moderate and severe carpal tunnel syndrome and 30 wrists of 15 controls were examined. Measurements of the cross-sectional area and the anteroposterior diameter of the median nerve at the inlet and outlet of the carpal tunnel were obtained. Patients also underwent electrophysiological evaluation. Median nerve ultrasonographic measurements were significantly higher in patients. The cross-sectional area of the median nerve at the tunnel inlet was found to be the most useful diagnostic criterion. The optimal cut-off value was 6.5 mm2 (sensitivity 89.5%, specificity 93%). Ultrasound parameters failed to correlate with the electrophysiological findings. The usefulness of ultrasonography in the diagnosis of carpal tunnel syndrome is discussed.
Journal of Hand Surgery (European Volume) 09/2008; 33(4):435-9. · 1.17 Impact Factor
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Cephalalgia 10/2006; 26(9):1150-2. · 3.43 Impact Factor
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ABSTRACT: Primary biliary cirrhosis (PBC) may associate an axonal neuropathy, a somatic and autonomic neuropathy and a very infrequently sensory neuropathy (with or without xanthomata). The aim of this paper is to describe the case of a 46 year old man diagnosed with PBC in stage I-II and a progressive sensory neuropathy (axonopathy) confined to his upper limbs with distal predominance. It had progressed slowly an began asymmetrically. A complete clinical study excluded other causes of neuropathy. We followed him clinically and electromyographically and he remains stable after two years evolution. The sensory neuropathy in this case, a primary biliary cirrhosis, is compatible with an assymetric sensory neuropathy limited to the upper limbs with assymmetric beginning.
Neurologia (Barcelona, Spain) 01/2003; 17(10):651-3. · 0.79 Impact Factor
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ABSTRACT: Dysfunction of small fibers may appear in isolation or associated with large fiber lesions. In some acute neuropathies, such as pandysautonomia, small-fiber impairment is relatively pure but it may also appear in disorders with prominent somatic damage, such as Guillain-Barré syndrome, in which autonomic failure worsens the prognosis. At the present time, chronic idiopathic distal small-fiber neuropathy is diagnosed more frequently, and in some prevalent disorders, such as diabetic or amyloidotic polyneuropathies, small-fiber dysfunction is very noticeable. In pure autonomic failure, a peripheral autonomic failure exists, distinguishing it from multiple-system atrophy. Complex regional pain syndrome is a severe condition in which small fibers are responsible for disabling signs and symptoms, and only instrumental recordings lead to the proper treatment. Standard neurophysiological techniques evaluate large myelinated fibers exclusively. Small-fiber polyneuropathy has been considered as a type of somatic neuropathy, but thin myelinated and unmyelinated fibers are responsible not only for temperature and pain perception but also autonomic function. For instance, full autonomic evaluation is needed in some clinical situations such as autonomic failure in the elderly or orthostatic intolerance syndrome. To evaluate small-fiber impairment we need a battery of sensitive, reproducible, specific and noninvasive tests covering somatic and autonomic systems. In this review, we describe and analyze a number of neurophysiological techniques used to diagnose and characterize small-fiber dysfunction in humans. These include cardiovascular monitoring, sudomotor testing, pupillary responses and quantitative sensory tests, and also to some extent thermography and laser evoked potentials. The use of such techniques has proven useful not only for diagnosis, but also to guide adequate therapy and optimize follow-up.
Neurophysiologie Clinique/Clinical Neurophysiology 03/2000; 30(1):27-42. · 1.98 Impact Factor
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ABSTRACT: To present the clinical features and DNA analysis of a Spanish SCA6 family.
Four symptomatic members of the family (mean age at onset: 53.75+/-5.21) were examined. SCA6 CAG trinucleotide repeat was analysed in the proband by the polymerase chain reaction (PCR).
Early dysphagia, ophthalmoparesis and neck dystonia in the oldest patient, without the loss of vibratory and proprioceptive sensation supporting the theory of phenotypic variability within families with SCA6. Our results are in accordance with the theory that the size of the repeat pattern correlates with the age at onset of the symptoms. Analysis of the SCA6 CAG trinucleotide repeat at the CACNA1A gene in the patient's DNA demonstrated an expanded allele of 22 CAG repeat units.
This study identifies phenotypic differences in the surviving kindred. The diagnosis of SCA6 in family members or single affected patients can be made by direct molecular analysis. This makes predictive testing possible.
Acta Neurologica Scandinavica 02/1999; 99(1):43-7. · 2.47 Impact Factor
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Medicina Clínica 11/1994; 103(14):534-6. · 1.38 Impact Factor
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ABSTRACT: Standard neurophysiological techniques evaluate thick myelinated fibers. Yet, peripheral nerves are equally composed of thin myelinated and unmyelinated fibers. The latter are responsible for autonomic function as well as temperature and pain perception.
Microneurographic studies are restricted to investigation laboratories. Since the techniques are complex and invasive, their performance is still poor for clinical purposes and some of the components to be analyzed, such as cardiovagal, cannot be directly recorded. The clinical need to evaluate the functions regulated by the autonomic nervous system (ANS) had led to devising a series of tests which, in most cases, rely on reflex responses evoked by already known standardize stimuli. The battery chosen has to be non invasive, reproducible, specific, providing relevant data to the investigated function, with a readily available technology, which has to be managed being aware of the physiological and pathological factors that might bear an influence on the results. The recent development of heart rate and blood pressure power spectral analysis, provides a new interesting insight for quantification of ANS abnormalities. The study of thermography and thermometry of body surface brings forward evidence on the activity of other thin and unmyelinated fibers components of the peripheral nerve spectrum.
The adequate management of the above mentioned tests gives rise to a more extensive and appropriate knowledge of the whole peripheral nerve fiber spectrum.
Revista de neurologia 28(6):535-43. · 0.65 Impact Factor
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ABSTRACT: Conventional EMG, nerve conduction studies and SFEMG were performed in 18 patients with various phenotypes of MD. 14 cases showed findings consistent with mild myopathy, 2 patients signs of sensory-motor axonal neuropathy and 2 cases a mixture of myopathy and axonal neuropathy. Motor unit fiber density was mild increased in 8 out of 13 tested cases. Jitter was abnormal in 10 out of 18 tested patients. Jitter abnormalities were not related to myopathic or neurogenic features in the EMG study, and may be observed in muscles without clinical weakness. The results suggest the existence of neuromuscular transmission disturbances in patients with MD.
Electromyography and clinical neurophysiology 44(1):35-8.
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ABSTRACT: INTRODUCTION: Disfunction of thin myelinated and unmyelinated fibers may appear isolated or in association with large-myelinated fibers lesion. Small-fiber neuropathy includes autonomic and sensory symptoms, most prominent of them thermo-algesic deficits. DEVELOPMENT AND CONCLUSION: In some acute neuropathies, small-fiber lesion is relatively pure, as in pandysautonomia, but it also appears in disorders with prominent somatic involvement, such as the Guillain-Barre syndrome, in which case autonomic symptoms worsens the prognosis. Small-fiber dysfunction is important in certain diseases that involve different components of the nervous system, like paraneoplastic syndromes and porphyria. Some drugs and toxic substances may damage thin myelinated and unmyelinated fibers. Nowadays, chronic idiopathic small-fiber neuropathy is diagnosed more frequently, because of the recent development of techniques that selectively evaluate this peripheral nerve component. Hereditary sensory and autonomic neuropathies can also be studied. Small-fiber dysfunction is very prominent in some diseases, e.g. diabetes mellitus and amyloidosis. In the pure autonomic failure, only the peripheral component of the autonomic nervous system is affected, and this feature is the key to make diagnosis versus multisystem atrophy. There are situations in which there is no clear deviation from normality, namely old age autonomic failure and orthostatic intolerance syndrome in which autonomic evaluation is mandatory.
Revista de neurologia 28(6):543-54. · 0.65 Impact Factor
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ABSTRACT: We have carried out electrophysiological studies and sural nerve biopsy evaluation in a Spanish family with genetically proven Machado-Joseph disease (SCA3/MJD) phenotype III.
Two symptomatic and other two asymptomatic members of the family were clinically examined. Electrophysiological evaluation included multimodal evoked potentials, quantitative electromyography and nerve conduction studies, and central motor conduction time. We also report neuropathological findings in the sural nerve biopsy in the proband.
Analysis of the SCA3/MJD CAG trinucleotide repeat at the ataxin 3 gene in the DNA of the proband and one of his daughters demonstrated an expanded allele of 63 CAG repeat units. Ataxic pursuit was primary disturbed in MJD, followed by gaze evoked nystagmus, hypermetric saccades and glissades. Limitation of vertical and horizontal gaze, impaired sinusoidal vestibulo-ocular reflex and vestibulo-ocular reflex-fixation-suppression, and active and passive optokinetic nistagmus loss appeared at later stages. Evoked potential studies showed multimodal abnormalities. Electrophysiological and sural nerve biopsy findings correspond well to a pattern of both anterior horn and root ganglion cell distal dominant degeneration. Central motor conduction time was normal in our patients up to advanced stages of the disease.
Electrophysiological and neuropathological studies suggested widespread peripheral and central affection in MJD. Repeated application of electrophysiological techniques may prove useful for monitoring disease progress.
Neurologia (Barcelona, Spain) 15(6):213-21. · 0.79 Impact Factor
