Electrophysiological recording of deep tendon reflexes: normative data in children and in adults

Péreón, Yann; Fournier, Emmanuel; Genet, Robert; Guihéneuc, P

doi:10.1016/j.neucli.2004.04.005

Cited by 25 publications

(30 citation statements)

References 17 publications

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“…The clinical diagnosis of PEPD was only established later in her affected son. General neurologic examination was normal; motor and sensory nerve conduction studies were normal in the median and ulnar nerves in the index patient, and latency measurement of myoelectric deep tendon (T) reflex responses from soleus and rectus femoris muscles was also normal 22 (the patient did not tolerate electrical shocks in the lower limbs for fear of triggering a painful attack). Carbamazepine was tried in two patients (III.2, IV.1).…”

Section: Clinical and Genealogical Characteristicsmentioning

confidence: 99%

p.L1612P, a Novel Voltage-gated Sodium Channel Nav1.7 Mutation Inducing a Cold Sensitive Paroxysmal Extreme Pain Disorder

et al. 2015

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Background: Mutations in the SCN9A gene cause chronic pain and pain insensitivity syndromes. We aimed to study clinical, genetic, and electrophysiological features of paroxysmal extreme pain disorder (PEPD) caused by a novel SCN9A mutation. Methods: Description of a 4-generation family suffering from PEPD with clinical, genetic and electrophysiological studies including patch clamp experiments assessing response to drug and temperature. Results: The family was clinically comparable to those reported previously with the exception of a favorable effect of cold exposure and a lack of drug efficacy including with carbamazepine, a proposed treatment for PEPD. A novel p.L1612P mutation in the Nav1.7 voltage-gated sodium channel was found in the four affected family members tested. Electrophysiologically the mutation substantially depolarized the steady–state inactivation curve (V1/2 from −61.8 ± 4.5 mV to −30.9 ± 2.2 mV, n = 4 and 7, P < 0.001), significantly increased ramp current (from 1.8% to 3.4%, n = 10 and 12) and shortened recovery from inactivation (from 7.2 ± 5.6 ms to 2.2 ± 1.5 ms, n = 11 and 10). However, there was no persistent current. Cold exposure reduced peak current and prolonged recovery from inactivation in wild-type and mutated channels. Amitriptyline only slightly corrected the steady–state inactivation shift of the mutated channel, which is consistent with the lack of clinical benefit. Conclusions: The novel p.L1612P Nav1.7 mutation expands the PEPD spectrum with a unique combination of clinical symptoms and electrophysiological properties. Symptoms are partially responsive to temperature but not to drug therapy. In vitro trials of sodium channel blockers or temperature dependence might help predict treatment efficacy in PEPD.

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Section: Clinical and Genealogical Characteristicsmentioning

confidence: 99%

p.L1612P, a Novel Voltage-gated Sodium Channel Nav1.7 Mutation Inducing a Cold Sensitive Paroxysmal Extreme Pain Disorder

et al. 2015

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“…Les réflexes T correspondent à l'enregistrement EMG de surface des réponses motrices générées par la percussion tendineuse [29]. Il s'agit donc d'un enregistrement électrophy-siologique des réflexes ostéotendineux qui font partie de l'examen clinique neurologique de base.…”

Section: Réflexes H Et Tunclassified

Bilan électrophysiologique d’un syndrome du canal lombaire étroit

Ahdab

Lefaucheur

2010

Pelv Perineol

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Le syndrome du canal lombaire étroit (ou rétréci) est une pathologie fréquente du sujet âgé. Le diagnostic est basé essentiellement sur l'interrogatoire (troubles sensitifs des membres inférieurs survenant à la marche) et l'examen clinique. L'imagerie lombaire (scanner et imagerie par résonance magnétique) permet de confirmer l'existence du rétrécissement canalaire et d'en déterminer la sévérité et l'étendue, mais n'est pas spécifique de son caractère symptomatique sur le plan clinique. L'exploration électrophysio-logique est complémentaire à l'imagerie, puisqu'elle évalue l'aspect fonctionnel plutôt qu'anatomique de la maladie. L'examen électroneuromyographique comprend l'étude de l'activité électromyographique à l'aiguille et l'étude des conductions nerveuses sensitives et motrices, y compris les ondes tardives H, T, et F. Ces techniques permettent de différencier une atteinte radiculaire, plexique ou tronculaire. L'étude des potentiels évoqués somesthésiques et moteurs permet de mettre en évidence l'existence d'une atteinte des voies longues de la moelle concomitante. L'exploration élec-trophysiologique du périnée permet d'étudier le retentissement de la pathologie sur les dernières racines sacrées. Le fait de combiner ces différentes techniques a pour intérêt d'augmenter la rentabilité diagnostique de l'examen électrophysiologique et de mieux connaître le niveau et les mécanismes lésionnels en cause. Dans ce texte sont discutées l'utilité et les limites des différentes techniques électrophysiologiques applicables dans l'exploration d'un syndrome du canal lombaire étroit.Mots clés Canal lombaire · Conduction nerveuse · Électromyographie · Exploration électrophysiologique périnéale · Onde F · Potentiels évoqués moteurs · Potentiels évoqués somesthésiques · Réflexe H Abstract Lumbar spinal stenosis is a frequent source of morbidity in the elderly. The diagnosis is primarily established on a clinical basis. Spine imaging confirms stenosis and determines its severity and extent, but does not differentiate symptomatic from asymptomatic forms. Clinical neurophysiology is complementary to imaging, addressing the functional rather than structural aspects of the disease. Electrophysiological tests include needle electromyography and nerve conduction studies with H-reflex, T-reflex, and F-wave recordings. These techniques differentiate nerve root from plexus or nerve trunk lesions. Somatosensory and motor evoked potentials can reveal concomitant spinal tract injury, and perineal neurophysiological testing more specifically assesses the involvement of S2 to S4 roots. The application of a battery of techniques is able to increase the diagnostic yield of electrophysiological studies and to better appraise the anatomical level and underlying mechanisms of the lesions. In this text, the value and limitations of these techniques are discussed in addition to the typical findings obtained and their pathophysiological significance.

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“…Electrophysiological examination was performed by standard methods using surface stimulating and recording electrodes. Motor nerve conduction studies, sensory nerve conduction studies, analysis of T reflexes 7 or F waves, as well as needle electromyography were performed on all patients. Data were acquired using a Viking IV electromyographic device (Nicolet, Madison, Wisconsin).…”

Section: Case Reportsmentioning

confidence: 99%

A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression

Magot¹,

Latour

Mussini³

et al. 2008

Muscle and Nerve

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P0 is a transmembrane protein of the immunoglobulin superfamily that plays a role in myelin structure and function. Myelin protein zero gene (MPZ) mutations usually cause a demyelinating variant of Charcot-Marie-Tooth disease type 1B (CMT1B), but there is a wide spectrum of phenotypic manifestation of these mutations. We describe three patients from one family and one separate patient who presented with a demyelinating neuropathy. Some had recurrent lesions at compression sites mimicking hereditary neuropathy with liability to pressure palsies (HNPP). A heterozygous nonsense mutation (Tyr145Stop) corresponding to a T-to-A transition at nucleotide position 435 in exon 3 of the MPZ gene was identified in all patients. This mutation leads to an extracellular truncated protein, which may explain the mild phenotype. Therefore, such MPZ gene mutations should be searched for in cases of demyelinating neuropathy with acute nerve compression as well as in cases of the HNPP phenotype associated with normal the PMP22 gene.

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Electrophysiological recording of deep tendon reflexes: normative data in children and in adults

Cited by 25 publications

References 17 publications

p.L1612P, a Novel Voltage-gated Sodium Channel Nav1.7 Mutation Inducing a Cold Sensitive Paroxysmal Extreme Pain Disorder

p.L1612P, a Novel Voltage-gated Sodium Channel Nav1.7 Mutation Inducing a Cold Sensitive Paroxysmal Extreme Pain Disorder

Bilan électrophysiologique d’un syndrome du canal lombaire étroit

A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression

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