Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Eye movement abnormalities were quantiatively assessed in four patients with clinically pure cerebellar atrophy (group A), six patients with brainstem plus cerebellar atrophy (group B), and five patients with Friedreich's ataxia (group C). Twelve patients had one or more types of spontaneous nystagmus; eight gaze nystagmus, three rebound nystagmus, wo positional nystagmus, and one vestibular nystagmus. Catoric-induced and rotatory-induced nystagmus was hyperactive in group A and diminished in group C. Group B had mixed responses. All patients demonstrated significant fixation instability and impaired smooth pursuit. There was dysmetria of voluntary saccades, with flutter and "rebound" saccades. Nine of 15 patients had significant slowing of induced saccades, including two patients in group A. It is concluded that quantitative vestibulocular tests can be useful in classifying the cerebellar atrophy syndromes.
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PMID:Vestibulo-ocular function in patients with cerebellar atrophy. 107 21

Several structures, located at different levels in the Central Nervous System (CNS), collaborate to the control and realization of ocular movements (O.M.) Therefore, alterations of oculomotricity, of varying degree and of different kinds, may be found in a lot of diseases of the CNS. The study of O.M., expecially when carried out by means of specific techniques such as electro-oculography, may represent an useful tool in the diagnosis (both from a topographic and an etiological standpoint) and in the follow-up of patients, possibly also allowing a precise evaluation of therapy effectiveness. In this review the Authors briefly examine the role of the supranuclear structures mostly involved in the control and in the execution of oculomotricity and the characteristics of the different types of O.M. (rapid and slow, vergence movements). Successively, they analyze the semeiological features of supra-nuclear disturbances of O.M., describing alterations of saccadic movements (slowing, dysmetria) and of smooth pursuit, fixation instability (square waves, flutter, opsoclonus, nystagmus,...) and other alterations of O.M. (ocular bobbing, see-saw nystagmus, skew deviation,...). Successively, disturbances of O.M. are analyzed in relation to their topodiagnostic significance, describing oculomotor involvements due to focal lesions of different areas of CNS (frontal cortex, parieto-occipital cortex, basal ganglia, cerebellum, brainstem) and particular syndromes (Foville syndromes, locked-in syndrome, Parinaud syndrome, anterior internuclear ophthalmoplegia, "one and a half" syndrome, Balint syndrome,...). Finally, particular attention is drawn to the oculomotor disturbances observed in degenerative cerebellar and multisystemic diseases, and several abnormal "oculomotor patterns", which seem to be specifically related to particular diseases, are described. In particular, the oculomotor patterns of Steele-Richardson-Olszewsky disease (slowing and hypometria of horizontal saccades, loss of upward saccades with preservation of reflex movements) and of Friedreich ataxia (fixation instability mostly due to the occurrence of square waves, saccadic dysmetria, impairment of smooth pursuit) are stressed.
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PMID:[The physiopathology of supranuclear structures in oculomotor disorders]. 219 86

Combined 2-dimensional and M-mode echocardiography was used to assess the cardiac status of 22 patients with Friedreich's ataxia, and the findings were correlated with the clinical and electrocardiographic (ECG) data. Mean age at onset of Friedreich's ataxia was 8 years (range 3 to 18); mean age at echocardiography was 18 years (range 8 to 39). Echocardiographic findings were abnormal in 19 patients (86%). The 3 patients with normal echocardiographic findings did not have cardiac symptoms, but 1 had ECG repolarization abnormalities. Concentric left ventricular (LV) thickening, the most common echocardiographic finding, was found in 15 patients (68%) and in all 15 the papillary muscles were thickened. These 15 patients had ECG repolarization abnormalities and 5 had left-axis deviation; however, only 3 satisfied ECG criteria for LV or right ventricular hypertrophy. Two of the 15 patients (9%) had symptoms of heart failure. Two patients had asymmetric septal thickening without clinical evidence of LV outflow tract obstruction; neither had cardiac symptoms, but both had ECG repolarization abnormalities. Two patients showed a dilated cardiomyopathy pattern; both had heart failure and atrial flutter. One of these patients died, and necropsy revealed 4-chamber cardiac dilatation, biventricular hypertrophy and histologic findings of diffuse interstitial fibrosis, myocellular hypertrophy and necrosis. This study revealed a wide spectrum of cardiac abnormalities in patients with Friedreich's ataxia.
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PMID:Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations. 294 67

We evaluated the frequency of cerebral infarction in 131 patients with Duchenne's muscular dystrophy, myotonic dystrophy, Becker's muscular dystrophy, or Friedreich's ataxia. Electrocardiographic abnormalities were found in 83% of patients with Duchenne's muscular dystrophy, 56% with myotonic dystrophy, 50% with Becker's muscular dystrophy, and 25% with Friedreich's ataxia. Atrial flutter occurred in 2.3% of the patients, and atrial fibrillation in only 0.9%. Evidence of cerebral infarction was found in only 2 patients (1.5%). Both patients had cardiomyopathy and either atrial fibrillation or flutter. Despite frequent cardiac involvement, cerebral infarction is an uncommon occurrence in patients with inherited neuromuscular diseases.
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PMID:Frequency of cerebral infarction in patients with inherited neuromuscular diseases. 360 8

In this study we compare the results of quantitative oculomotor function testing in patients with Friedreich's ataxia (FA), olivopontocerebellar atrophy (OPCA) and cerebello-olivary atrophy (CA). Common features in all three syndromes included gaze-evoked nystagmus, saccade dysmetria and prolonged saccade reaction times. Patients with FA showed a characteristic combination of frequent saccadic intrusions, especially ocular flutter, relatively preserved optokinetic nystagmus (OKN) and smooth pursuit, and impaired vestibulo-ocular reflex (VOR) responses. In patients with CA saccadic intrusions were infrequent, OKN and smooth pursuit were severely impaired and VOR gain was normal or increased. Results in OPCA were more variable. When present, slowing of saccades or the combined loss of pursuit and vestibular function were characteristic for OPCA. The ability to suppress the VOR with a head fixed target was relatively preserved in FA, normal to moderately impaired in OPCA and always severely impaired in CA. We conclude that oculomotor testing is useful in the differential diagnosis of the progressive ataxia syndromes.
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PMID:Comparison of oculomotor findings in the progressive ataxia syndromes. 814 9

Friedreich ataxia (FRDA), the commonest of the inherited ataxias, is a multisystem neurodegenerative condition that affects ocular motor function. We assessed eye movement abnormalities in 20 individuals with genetically confirmed FRDA and compared these results to clinical measures. All subjects were assessed with infrared oculography. Fifteen individuals underwent a full protocol of eye movement recordings. Ten subjects were analysed using two-dimensional scleral coil equipment and five using three-dimensional scleral coil recording equipment. We also recorded visual quality of life, Sloan low contrast letter acuity and Friedreich Ataxia Rating Scale scores to compare to the visual measures. Whilst saccadic velocity was essentially normal, saccadic latency was prolonged. The latency correlated with clinical measures of disease severity, including the scores for the Friedreich Ataxia Rating Scale and the Sloan low contrast letter acuity tests. Fixation abnormalities consisting of square wave jerks and ocular flutter were common, and included rare examples of vertical square wave jerks. Vestibular abnormalities were also evident in the group, with markedly reduced vestibulo-ocular reflex gain and prolonged latency. The range of eye movement abnormalities suggest that neurological dysfunction in FRDA includes brainstem, cortical and vestibular pathways. Severe vestibulopathy with essentially normal saccadic velocity are hallmarks of FRDA and differentiate it from a number of the dominant spinocerebellar ataxias. The correlation of saccadic latency with FARS score raises the possibility of its use as a biomarker for FRDA clinical trials.
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PMID:Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia. 1823 98