Nerve Conduction Studies in Children with Friedreich's Ataxia and Ataxia-telangiectasia

2008 ◽  
Vol 15 (3) ◽  
pp. 324-337 ◽  
Author(s):  
Henry G. Dunn
Keyword(s):  
Ataxia Telangiectasia ◽  
Nerve Conduction ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Nerve Conduction Studies

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 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 Longitudinal Evoked Potential Studies in Hereditary Ataxias

1985 ◽  
Vol 12 (2) ◽  
pp. 100-105 ◽  
Author(s):  
M.J. Taylor ◽  
W.Y. Chan-Lui ◽  
W.J. Logan
Keyword(s):  
Ataxia Telangiectasia ◽  
Evoked Potential ◽  
Clinical Status ◽  
Friedreich’S Ataxia ◽  
Auditory Brainstem ◽  
Friedreich's Ataxia ◽  
Response To Therapy ◽  
Auditory Brainstem Responses ◽  
Multimodal Evoked Potentials ◽  
Low Amplitude

ABSTRACT:We studied multimodal evoked potentials (EPs) longitudinally in a series of children with Friedreich’s ataxia and ataxia telangiectasia to determine both their diagnostic utility and their correlation with clinical regression.The auditory brainstem responses (ABRs) were abnormal only in the children with Friedreich’s ataxia. The abnormality seen in these patients was a rostral-caudal loss of the ABR waves. The visual EPs (VEPs) were abnormal in many of the patients; those with ataxia telangiectasia had unusually low amplitude or absent VEPs, occasionally with increased latencies, whereas those with Friedreich’s ataxia had normal amplitude VEPs, often at increased latencies. The somatosensory EPs were usually of increased latency or absent in these patients. Unlike the ABR and VEPs, they did not serve to differentiate the groups.Changes in the EPs appeared to reflect clinical deterioration; patients with little change in their EPs over several years were regressing very slowly, whereas others had rapid deterioration in both EPs and clinical status. We suggest that the EPs are diagnostically of value in degenerative ataxias and may be of value in monitoring these patients and their response to therapy.

scholarly journals Multimodal Electrophysiological Assessment of Ataxia Telangiectasia

1983 ◽  
Vol 10 (4) ◽  
pp. 261-265 ◽  
Author(s):  
Margot J. Taylor ◽  
William J. Logan
Keyword(s):  
Ataxia Telangiectasia ◽  
Nerve Conduction ◽  
Older Patients ◽  
Small Amplitude ◽  
Sensory Nerve ◽  
Nerve Conduction Studies ◽  
Evoked Response ◽  
Diagnostic Utility ◽  
Evoked Responses ◽  
Abnormal Motor

SUMMARY:We report multimodal evoked response studies in eleven children with ataxia telangiectasia. The ABRs were normal in all but one patient despite the severity of the disorder. The SERs were abnormal in all of the patients, the waveforms being either absent or of delayed latency, the abnormalities were more marked in the older patients. Abnormal motor and sensory nerve conduction studies were also found in all but the younger few patients. Most notably, the VERs were abnormal in all but 2, the older patients had delayed VERs and most had small amplitude responses. The electrophysiological profile of ataxia telangiectasia patients on the multimodal evoked responses differs from that found in certain other degenerative ataxias studied and may have some diagnostic utility.

Is the sensory neuropathy in ataxia-telangiectasia distinguishable from that in Friedreich's ataxia?

1986 ◽  
Vol 69 (3-4) ◽  
pp. 213-219 ◽  
Author(s):  
F. Barbieri ◽  
L. Santoro ◽  
C. Crisci ◽  
R. Massini ◽  
E. Russo ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Sensory Neuropathy ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia
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