scholarly journals Electromyography and Nerve Conduction Studies in Friedreich's Ataxia and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

1979 ◽  
Vol 6 (2) ◽  
pp. 185-189 ◽  
Author(s):  
J.P. Bouchard ◽  
A. Barbeau ◽  
R. Bouchard ◽  
R.W. Bouchard
Keyword(s):  
Nerve Conduction ◽  
Autosomal Recessive ◽  
Clinical Signs ◽  
Sensory Nerve ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Nerve Conduction Studies ◽  
Spastic Ataxia ◽  
Group I ◽  
Electrophysiological Studies

SummaryTwenty four ataxie patients were investigated with electromyography and nerve conduction studies. They were divided in two groups according to the area they came from, the evolution of the disease, and the clinical signs. Group I patients from the Rimouski area displayed all the clinical and electrophysiological signs of Friedreich's ataxia. Group II comprised patients who presented with a new syndrome known as the autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Although the clinical evolution was better in the latter, there were more electromyographic signs of denervation and the motor conduction velocities were slower. Both groups showed identical and important abnormalities in sensory nerve conduction.The results of electrophysiological studies in spastic ataxia have not been reported to our knowledge. They underline the place of spastic ataxia as distinct f rom Friedreich's ataxia, spastic paraplegia, and the known familial neuropathies.

scholarly journals PERIPHERAL NEUROPATHY ELECTROPHYSIOLOGICAL SCREENING IN CHILDREN WITH CELIAC DISEASE

2015 ◽  
Vol 52 (2) ◽  
pp. 134-138 ◽  
Author(s):  
Şedat IŞIKAY ◽  
Nurgül IŞIKAY ◽  
Halil KOCAMAZ ◽  
Şamil HIZLI
Keyword(s):  
Nervous System ◽  
Celiac Disease ◽  
Peripheral Neuropathy ◽  
Peripheral Nervous System ◽  
Nerve Conduction ◽  
Sensory Nerve ◽  
Nerve Conduction Studies ◽  
Neurological Symptoms ◽  
Subclinical Neuropathy ◽  
Electrophysiological Studies

Background The involvement of the peripheral nervous system in children with celiac disease is particularly rare. Objective The aim of this study was to assess the need for neurophysiological testing in celiac disease patients without neurological symptoms in order to detect early subclinical neuropathy and its possible correlations with clinical and demographic characteristics. Methods Two hundred and twenty consecutive children with celiac disease were screened for neurological symptoms and signs, and those without symptoms or signs were included. Also, patients with comorbidities associated with peripheral neuropathy or a history of neurological disease were excluded. The remaining 167 asymptomatic patients as well as 100 control cases were tested electro-physiologically for peripheral nervous system diseases. Motor nerve conduction studies, including F-waves, were performed for the median, ulnar, peroneal, and tibial nerves, and sensory nerve conduction studies were performed for the median, ulnar, and sural nerves with H reflex of the soleus muscle unilaterally. All studies were carried out using surface recording electrodes. Normative values established in our laboratory were used. Results Evidence for subclinical neuropathy was not determined with electrophysiological studies in any of the participants. Conclusion In this highly selective celiac disease group without any signs, symptoms as well as the predisposing factors for polyneuropathy, we did not determine any cases with neuropathy. With these results we can conclude that in asymptomatic cases with celiac disease electrophysiological studies are not necessary. However, larger studies with the electrophysiological studies performed at different stages of disease at follow-ups are warranted.

scholarly journals Electroencephalographic Findings in Friedreich's Ataxia and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

1979 ◽  
Vol 6 (2) ◽  
pp. 191-194 ◽  
Author(s):  
R.W. Bouchard ◽  
J.P. Bouchard ◽  
R. Bouchard ◽  
A. Barbeau
Keyword(s):  
Autosomal Recessive ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Hereditary Ataxia ◽  
Subcortical Structures ◽  
Spastic Ataxia ◽  
Eeg Abnormalities ◽  
Severity Of The Disease

SummaryElectroencephalographie studies have heen done in two groups of hereditary ataxia: a group hearing the classical features of Friedreich's ataxia and a group clinically different described as autosomal recessive spastic ataxia of Charlevoix-Saguenay (A RSA CS). The qualitative anomalies observed in the two Ķroups were similar and were comparable with the data reported in the literature. However, the main difference between the two groups is the greater incidence of EEG abnormalities in the A RSA CS group, which suggests more involvement of the cortical and subcortical structures. This is reinforced by the lower I.Q. performance in the latter patients. Some comments are made about focal EEG findings, behavior and I.Q. In general, EEG was not considered a valuable instrument for diagnosis since no qualitative electric pattern could be identified. With regard to prognosis, EEG cannot be used as a criterion, since there is no relation between the degree of anomalies and the severity of the disease and since EEG does not worsen with the progression of the disease.

scholarly journals Electrophysiological Studies in Five Cases of Abetalipoproteinemia

1984 ◽  
Vol 11 (1) ◽  
pp. 60-63 ◽  
Author(s):  
N.J. Lowry ◽  
M.J. Taylor ◽  
W. Belknapp ◽  
W.J. Logan
Keyword(s):  
Nerve Conduction ◽  
Sensory Nerve ◽  
Auditory Brainstem ◽  
Nerve Conduction Studies ◽  
Auditory Brainstem Responses ◽  
Normal Velocity ◽  
Electrophysiological Studies ◽  
Myelinated Fibres ◽  
Peripheral Motor ◽  
Peripheral Sensory

SUMMARYAuditory brainstem responses (ABRs), visual and somatosensory evoked responses (VEPs and SEPs) and nerve conduction studies were conducted in 5 patients with abetaiipoproteinemia. The ABRs were normal in all cases. The VEPs were of normal amplitude but of increased latencies in two patients. The four eldest patients had delayed cortical SEPs but normal peripheral sensory nerve conduction studies. The peripheral motor conduction velocities were normal in all cases. The peripheral sensory studies showed normal velocity when a response was seen; however, the amplitude of the response was often reduced or it was absent. The electrophysiological studies reported here support a model of axonal loss of large myelinated fibres with secondary demyelination in abetaiipoproteinemia.

scholarly journals Nerve Conduction Studies and Electromyography in Friedreich's Ataxia

1976 ◽  
Vol 3 (4) ◽  
pp. 313-317 ◽  
Author(s):  
J.M. Peyronnard ◽  
L. Lapointe ◽  
J.P. Bouchard ◽  
A. Lamontagne ◽  
B. Lemieux ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Nerve Conduction ◽  
Action Potentials ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Nerve Conduction Studies ◽  
Standard Protocol ◽  
Conduction Velocities ◽  
Sensory Action ◽  
Almost All

SUMMARY:Twenty-six of 50 patients were investigated with nerve conduction studies and electromyography using a standard protocol and were compared to the findings in 50 normal control subjects. Almost all cases of typical Friedreich's ataxia had absent sensory action potentials (SAP) in the digital (92%) or sural (96%) nerves. The others had markedly decreased S.A.P's. In these same patients motor conduction auvelocities were either normal or only slightly decreased. In the second, atypical group of 9 patients, the motor conduction velocities were considerably decreased.Because of the absence of sensory action potentials in Friedreich's ataxia, and that the absence was noted in our very mild cases, it is proposed that this measure be used to facilitate early diagnosis.

scholarly journals Future Prospects of Gene Therapy for Friedreich’s Ataxia

2021 ◽  
Vol 22 (4) ◽  
pp. 1815 ◽  
Author(s):  
Gabriel Ocana-Santero ◽  
Javier Díaz-Nido ◽  
Saúl Herranz-Martín
Keyword(s):  
Gene Therapy ◽  
Viral Vectors ◽  
Autosomal Recessive ◽  
State Of The Art ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
First Intron ◽  
Progressive Neurodegeneration ◽  
Feasible Solutions ◽  
Neurogenetic Disease

Friedreich’s ataxia is an autosomal recessive neurogenetic disease that is mainly associated with atrophy of the spinal cord and progressive neurodegeneration in the cerebellum. The disease is caused by a GAA-expansion in the first intron of the frataxin gene leading to a decreased level of frataxin protein, which results in mitochondrial dysfunction. Currently, there is no effective treatment to delay neurodegeneration in Friedreich’s ataxia. A plausible therapeutic approach is gene therapy. Indeed, Friedreich’s ataxia mouse models have been treated with viral vectors en-coding for either FXN or neurotrophins, such as brain-derived neurotrophic factor showing promising results. Thus, gene therapy is increasingly consolidating as one of the most promising therapies. However, several hurdles have to be overcome, including immunotoxicity and pheno-toxicity. We review the state of the art of gene therapy in Friedreich’s ataxia, addressing the main challenges and the most feasible solutions for them.

Reproducibility of sensory nerve conduction studies of the sural nerve using ultrasound-guided needle positioning

2011 ◽  
Vol 44 (6) ◽  
pp. 873-876 ◽  
Author(s):  
Olivier Scheidegger ◽  
Alexander F. Küffer ◽  
Christian P. Kamm ◽  
Kai M. Rösler
Keyword(s):  
Nerve Conduction ◽  
Sural Nerve ◽  
Sensory Nerve ◽  
Nerve Conduction Studies ◽  
Ultrasound Guided

scholarly journals Carpal tunnel syndrome: long-term nerve conduction studies in 261 hands

2009 ◽  
Vol 67 (1) ◽  
pp. 69-73 ◽  
Author(s):  
Dante Guilherme Velasco Hardoim ◽  
Guilherme Bueno de Oliveira ◽  
João Aris Kouyoumdjian
Keyword(s):  
Carpal Tunnel Syndrome ◽  
Carpal Tunnel ◽  
Nerve Conduction ◽  
Sensory Nerve ◽  
Nerve Conduction Studies ◽  
Sensory Nerve Action ◽  
Tunnel Syndrome ◽  
The Mean ◽  
Compound Action

OBJECTIVE: To compare a long-term carpal tunnel syndrome (CTS) on nerve conduction studies (NCS) in hands treated non-surgically. METHOD: We retrospectively selected 261 symptomatic CTS hands (166 patients), all of them confirmed by NCS. In all cases, at least 2 NCS were performed in an interval greater than 12 months. Cases with associated polyneuropathy were excluded. NCS parameters for CTS electrodiagnosis included a sensory conduction velocity (SCV) <46.6 m/s (wrist to index finger, 14 cm) and distal motor latency (DML) >4.25 ms (wrist to APB, 8 cm). RESULTS: 92.8% were women; mean age was 49 years (20-76); the mean interval between NCS was 47 months (12-150). In the first exam, the median sensory nerve action potential (SNAP) and the compound action muscular potential were absent in 9.8% and 1.9%, respectively. In the second/last exam, SCV worsened in 54.2%, remained unchanged in 11.6% and improved in 34.2%. SNAP amplitude worsened in 57.7%, remained unchanged in 13.1% and improved in 29.2%. DML worsened in 52.9%, remained unchanged in 7.6% and improved in 39.5%. Overall, NCS parameters worsened in 54.9%, improved in 34.3% and remained unchanged in 10.8%. CONCLUSION: Long-term changing in NCS of CTS hands apparently were not related to clinical symptomatology and could lead to some difficulty in clinical correlation and prognosis. Aging, male gender and absent SNAP were more related to NCS worsening, regardless the mean interval time between the NCS.

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