scholarly journals Clinical and Electronystagmographic findings in Friedreich's Ataxia

Author(s):  
L. A. Monday ◽  
B. Lemieux ◽  
H. St-Vincent ◽  
A. Barbeau

SUMMARY:A thorough investigation of vestibular function has been carried out in 16 patients with typical Friedreich's ataxia. Electronystagmography and caloric tests revealed a number of inconstant abnormalities. Most abnormal findings were related to ocular dysmetria, disorganized pursuit and square waves.

2020 ◽  
Vol 29 (2) ◽  
pp. 188-198
Author(s):  
Cynthia G. Fowler ◽  
Margaret Dallapiazza ◽  
Kathleen Talbot Hadsell

Purpose Motion sickness (MS) is a common condition that affects millions of individuals. Although the condition is common and can be debilitating, little research has focused on the vestibular function associated with susceptibility to MS. One causal theory of MS is an asymmetry of vestibular function within or between ears. The purposes of this study, therefore, were (a) to determine if the vestibular system (oculomotor and caloric tests) in videonystagmography (VNG) is associated with susceptibility to MS and (b) to determine if these tests support the theory of an asymmetry between ears associated with MS susceptibility. Method VNG was used to measure oculomotor and caloric responses. Fifty young adults were recruited; 50 completed the oculomotor tests, and 31 completed the four caloric irrigations. MS susceptibility was evaluated with the Motion Sickness Susceptibility Questionnaire–Short Form; in this study, percent susceptibility ranged from 0% to 100% in the participants. Participants were divided into three susceptibility groups (Low, Mid, and High). Repeated-measures analyses of variance and pairwise comparisons determined significance among the groups on the VNG test results. Results Oculomotor test results revealed no significant differences among the MS susceptibility groups. Caloric stimuli elicited responses that were correlated positively with susceptibility to MS. Slow-phase velocity was slowest in the Low MS group compared to the Mid and High groups. There was no significant asymmetry between ears in any of the groups. Conclusions MS susceptibility was significantly and positively correlated with caloric slow-phase velocity. Although asymmetries between ears are purported to be associated with MS, asymmetries were not evident. Susceptibility to MS may contribute to interindividual variability of caloric responses within the normal range.


1986 ◽  
Vol 25 (2) ◽  
pp. 84-91 ◽  
Author(s):  
E. Cassandro ◽  
F. Mosca ◽  
L. Sequino ◽  
F. A. De Falco ◽  
G. Campanella

Author(s):  
H.F. Gattiker ◽  
A. Davignon ◽  
A. Bozio ◽  
J. Batlle-Diaz ◽  
G. Geoffroy ◽  
...  

SUMMARY:Echocardiographic examination of 21 patients with Friedreich's ataxia (age 7 to 28 years) showed cardiac abnormalities in 90% of the cases. They were characterized by varying degrees of septal hypertrophy in 81%, left ventricular free wall hypertrophy in 61%, and a slight reduction of left ventricular internal dimension in 57% of the cases. Asymmetric septal hypertrophy (ASH) with a septal/left ventricular free wall ratio of over 1.3 was found in 29% of the cases, and systolic anterior motion (SAM) of the mitral valve in three patients. Two other patients showed evidence of a different type of cardiomyopathy with marked symmetric left ventricular hypertrophy and marked left ventricular enlargement.


1978 ◽  
Vol 85 (3) ◽  
pp. 400-406 ◽  
Author(s):  
Robert T. Dale ◽  
Albert W. Kirby ◽  
Robert S. Jampel

2021 ◽  
Vol 22 (4) ◽  
pp. 1815 ◽  
Author(s):  
Gabriel Ocana-Santero ◽  
Javier Díaz-Nido ◽  
Saúl Herranz-Martín

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.


2002 ◽  
Vol 17 (6) ◽  
pp. 453-456 ◽  
Author(s):  
Catherine L. Gallagher ◽  
Andrew J. Waclawik ◽  
Brad R. Beinlich ◽  
Cary O. Harding ◽  
Richard M. Pauli ◽  
...  

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