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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The intraoperative variability of somatosensory cortical evoked potentials (SCEPs) has been measured for 320 consecutive spinal surgeries and found to be a function of patient diagnosis, neuromuscular status, age, and procedural factors. In many cases, it is likely that this variability severely limits the reliability and usefulness of spinal cord monitoring in detecting early cord compromise. Patients with idiopathic scoliosis, spondylolisthesis, and pseudarthrosis have the smallest spontaneous variability and strongest amplitudes, while those with congenital, paralytic scoliosis, stenosis, or tumor have very variable, weak SCEPs. Patients with neurologic disorders, particularly cerebral palsy, myelomeningocele, Friedreich's ataxia, and peripheral deficits, also have high variability and weak amplitudes. A monitoring quality scoring system is proposed that may be useful during surgery in judging how well the SCEPs can discern surgically related changes in cord function from background variations.
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PMID:Variability of somatosensory cortical evoked potential monitoring during spinal surgery. 278 92

The frequency and characteristics of cardiac involvement have been evaluated in 22 patients with Friedreich's ataxia and in 10 patients with non Friedreich's ataxia (Strumpell-Lorraine 5 cases; Pierre Marie 5 cases), classified according to the severity and the lasting of neurological disease. In a high percentage (45%) of patients with Friedreich's ataxia, the results show left ventricular hypertrophy as proved echocardiographically by an increase of the interventricular septum thickness and of the posterior wall thickness. On the contrary, no patient with non Friedreich's ataxia had left ventricular hypertrophy. In the patients with Friedreich's ataxia, left ventricular hypertrophy was of concentric type in 27% of the cases and of asymmetric type in 18% of the cases; left ventricular systolic indexes were not reduced. The left ventricular end-diastolic diameter was normal in all the patients. Furthermore, in 4 patients with Friedreich's ataxia (18% of the cases) without left ventricular hypertrophy, mitral valve prolapse has been found. No correlation exists between the severity and the lasting of neurologic disease and the presence of cardiac hypertrophy. This supports the hypothesis that the cardiac abnormality is a primary expression of a genetic defect and not a secondary manifestation of spinocerebellar degeneration. It is therefore necessary to always consider a patient with Friedreich's ataxia as affected with a cardiac disease even if it is not clinically evident.
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PMID:[Cardiac involvement in Friedreich's heredo-ataxia]. 294 Jan 41

The literature contains few reports of investigations on the mental state of subjects with Friedreich's ataxia. Most are based on clinical findings and lead to differing conclusions. For some authors the neurological disease is associated with mental deficits of varying magnitude, for others the mental state of the patients is accompanied by any deficit. The authors discuss five cases and try to supplement clinical findings with a series of psychometric tests in three areas: intellectual efficiency, higher cortical functions and elements of personality. The clinical and psychometric results are summarized in a grid comprising the main psychopathological symptoms attached to cerebral organic suffering (psycho-organic syndrome). Comparison of the results with medical data confirm that, in Friedreich's ataxia, there are no specific disorders characteristic of a psycho-organic syndrome. Lastly, the authors discuss certain hypotheses (concerning methods used, precocious appearance of symptoms and reactions to the disease) which try to explain the divergence of conclusions reached in the literature for this type of study.
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PMID:[Psychometric studies in Friedreich's ataxia]. 405 Mar 12

One hundred and fifteen patients with carefully defined Friedreich's ataxia were assessed clinically and electrocardiographically for evidence of heart disease. Cardiac symptoms, of which dyspnoea and palpitations were the most frequent, occurred in less than 30 per cent. Abnormalities on clinical examination were present in a similar proportion; harsh systolic murmurs, ventricular hypertrophy and added heart sounds were the commonest of these. Cardiac failure and persistent arrhythmias were rare and occurred late in the evolution of the neurological disease. Two patients presented with heart disease before developing neurological symptoms. Cardiac signs and symptoms were uncommon in patients without electrocardiographic abnormalities. About two-thirds of the cases had definitely abnormal ECG recordings. The characteristic finding was of widespread T-wave inversion with ventricular hypertrophy. Serial ECGs, recorded over periods of up to 32 years, were available in 30 cases and showed that abnormalities may develop in patients with Friedreich's ataxia at any time up until 20 years after the onset of neurological symptoms. In four patients initial ECG abnormalities had either improved or disappeared subsequently.
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PMID:The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases. 622 49

Friedreich's disease is a very rare neurological disorder that causes degeneration of the posterior roots of the spinal nerves and progresses to the anterior roots, even in young adults. Hospital emergency teams face the question of choice of anaesthesia in such patients should general anaesthesia be preferred to regional anaesthesia. We report a 36-year-old patient with spinocerebellar heredoataxia (Friedreich's disease) who underwent a proctological procedure after administration of spinal anaesthesia with 3 mg hyperbaric bupivacaine in a sitting position. Both the intra- and post-operative courses were unremarkable; in particular, with regard to the underlying neurological disease, no complications were observed.
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PMID:[Spinal anesthesia (saddle block) in Friedreich's diseases]. 766 34

Intraoperative electrophysiological monitoring of the spinal cord has traditionally been done by recording somatosensory evoked potentials (SEP). There is a risk that SEPs can be unaltered when significant injury to the anterior spinal cord has occurred. The purpose of this report is to describe a simple technique for intraoperative spinal cord stimulation which monitors descending pathways in the anterior spinal cord. Stimulation occurs through needle electrodes inserted into spinous processes in the rostral surgical wound, and recordings are made from electrodes in the popliteal spaces. We report our experience in monitoring spinal instrumentation in 45 patients with idiopathic scoliosis and 20 with some form of neurological disease causing scoliosis. The neurogenic motor evoked potentials (NMEP) are stable and easily recorded from the popliteal spaces in the majority of patients. We describe the case of 1 patient with Friedreich's ataxia in whom no SEPs could be recorded, but NMEPs were used successfully for monitoring. We have fond that combining traditional SEP monitoring with NMEP recording provides a safe and effective method to monitor the spinal cord during surgical procedures where it is at risk.
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PMID:Direct spinal stimulation for intraoperative monitoring during scoliosis surgery. 765 20

Developments in the field of Huntington's disease have focused on the potential benefits of predictive testing. Markers have been described for autosomal dominant cerebellar ataxia and for certain subtypes of Friedrich's ataxia. Argentophilic neuronal and glial inclusions appear to be the first specific pathologic hallmark of multiple system atrophy. "Pure" hereditary spastic paraplegia is not a multisystem disorder of the central nervous system, but a monomorphic and stereotyped disease. Advances in Tourette's syndrome are limited because the presumed gene eludes identification. A new type of myoclonus, propiospinal myoclonus, has been described. Clinical and electrophysiologic criteria for defining primary orthostatic tremor have been proposed. Understanding of the neurophysiologic substrate of essential tremor and myoclonus is improving. New neurologic disorders presenting clinically with prominent movement disorder continue to be described.
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PMID:Choreas, hereditary and other ataxias, tics, myoclonus, and other movement disorders. 850 6

Infantile onset spinocerebellar ataxia (IOSCA, MIM 271245) is a recessively inherited, progressive neurological disease, which we have described in 19 Finnish patients. The clinical symptoms of IOSCA include ataxia, athetosis, hypotonia, hearing deficit, ophthalmoplegia, sensory neuropathy, female hypogonadism, and epilepsy as a late manifestation. We have mapped the IOSCA locus to 10q24. In our two autopsy cases of IOSCA, the neuropathological findings were almost uniform. The cerebral hemispheres were quite well preserved, but the brain stem and the cerebellum were moderately atrophic. The most severe atrophic changes were seen in the spinal cord: in the dorsal roots, the posterior columns and the posterior spinocerebellar tracts. There was a severe neuronal loss in the dorsal nucleus (Clarke's column) of both cases and slight atrophy of the intermediolateral column in one case. The cerebellar peduncles, the inferior olives, the accessory cuneate nuclei and especially the dentate nuclei were atrophic and gliotic. The eighth cranial nerve and nucleus were atrophic. The ventral pontine nuclei and transverse fibers were slightly affected. Tegmental nuclei and tracts, especially sensory structures, were more severely affected. In mesencephalon, there was atrophy of the oculomotor nuclear complex and periaqueductal gray matter. The cerebellar cortex showed patchy atrophy. Degenerative changes were seen in dorsal root ganglia, and there was a severe axonal loss in the sural nerve. The neuropathological picture of IOSCA thus seems close to that reported in Friedreich's ataxia, another recessively inherited usually childhood-onset ataxia.
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PMID:Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. 987 82

Cardiomyopathy and neuromuscular abnormalities may simultaneously coexist and present with defects in mitochondrial DNA and bioenergetic function. We sought to evaluate the relationship between clinical and mitochondrial phenotypes in 28 young patients with both cardiomyopathy and neurologic disorders including seizures, dystonia, ophthalmoplegia, Kearns-Sayre syndrome, Leigh disease, and Friedreich's ataxia. All tissues examined displayed marked defects in respiratory complex activities. Five patients had abundant large-scale mitochondrial DNA deletions and one patient displayed a pathogenic point mutation previously reported with mitochondrial cytopathy. In this cohort, patients with hypertrophic cardiomyopathy displayed a higher incidence of complex I defects, fewer DNA deletions and mitochondrial structural abnormalities and were less often associated with developmental delay phenotype compared with patients with dilated cardiomyopathy. Although structural abnormalities are present in a subset of patients, evaluation of respiratory enzyme activity appears to be most informative whether tissues examined were derived from heart or skeletal muscle. Defects in mitochondrial DNA and bioenergetics are frequently present in children with cardiomyopathy presenting with a variety of neurologic abnormalities and are amenable to biochemical and molecular analysis.
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PMID:Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype. 1254 31

The concepts of energy dysregulation and oxidative stress and their complicated interdependence have rapidly evolved to assume primary importance in understanding the pathophysiology of numerous neurological disorders. Therefore, neuroprotective strategies addressing specific bioenergetic defects hold particular promise in the treatment of these conditions (i.e., amyotrophic lateral sclerosis, Huntington's disease, Parkinson's disease, Friedreich's ataxia, mitochondrial cytopathies and other neuromuscular diseases), all of which, to some extent, share 'the final common pathway' leading to cell death through either necrosis or apoptosis. Compounds such as creatine monohydrate and coenzyme Q(10) offer substantial neuroprotection against ischaemia, trauma, oxidative damage and neurotoxins. Miscellaneous agents, including alpha-lipoic acid, beta-OH-beta-methylbutyrate, riboflavin and nicotinamide, have also been shown to improve various metabolic parameters in brain and/or muscle. This review will highlight the biological function of each of the above mentioned compounds followed by a discussion of their utility in animal models and human neurological disease. The balance of this work will be comprised of discussions on the therapeutic applications of creatine and coenzyme Q(10).
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PMID:Targeting cellular energy production in neurological disorders. 1451 86


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