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

A family is described in which a mother and three of her five children showed myoclonic epilepsy. The mother and one son were also ataxic; one other son had additional features of Friedreich's ataxia, and a daughter had peroneal muscular atrophy as well as myoclonic epilepsy and ataxia. Although some of these disorders have been associated in previously reported families, the occurrence of all three disorders in members of one family seems to be unique. It is concluded that this family shows the manifestations of one, probably dominant, gene. The differences in age of onset and manifestations may be explained by the action of one or more subsidiary genes.
Brain 1978 Sep
PMID:Familial myoclonic epilepsy with ataxia and neuropathy with additional features of Friedreich's ataxia and peroneal muscular atrophy. 10 Dec 80

The electrocardiogram of Friedrich's disease shows pathological findings in all examined patients, mostly T-wave inversion. On the other hand cases of abortive Friedreich's disease and of cerebellar ataxia Nonne-Marie don't present any substantial alteration of ecg. To a minor extent roentgenological findings might suggest Friedreich's cardiomyopathy discussed as a possible result of a neuro-myo-cardiac process.
Z Kardiol 1976 Sep
PMID:[T inversion in Friedreich's ataxia]. 96 28

Short- and long-latency responses (HR and LLR) from thenar muscles were studied in patients with Friedreich's ataxia and pure cerebellar ataxia with later onset by applying electrical stimuli on the median nerve at the wrist. HR and LLR were examined during two different voluntary activities of the opponens pollicis muscle: isometric ("hold") and isotonic ballistic ("move") conditions. A preliminary conventional study of motor and sensory conduction of the median nerve was also carried out. Patients with Friedreich's ataxia had reduced or absent HR and LLR. Furthermore, those who preserved both responses had prolonged HR-LLR interpeak latency. All patients with Friedreich's ataxia also showed peripheral nerve conduction abnormalities, mainly in sensory fibers. These data can be accounted for by the widespread degeneration of many neural structures in this disorder. No abnormalities in HR were observed in pure cerebellar ataxia with later onset, whereas LLR was grossly enlarged in most patients, notably during "move" condition. Since cerebellar structures (especially the cerebellar cortex) are the only ones involved in this disorder, the cerebellum may play a role in modulating LLR. In particular, this effect could be more evident in isotonic ballistic movements.
Electromyogr Clin Neurophysiol 1992 Sep
PMID:Electrically elicited short and long-latency responses of intrinsic hand muscles in hereditary ataxias. Effects of isometric and ballistic isotonic voluntary contractions. 139 95

All the cases of Friedreich's ataxia (FA) diagnosed between 1945 through 1984 among residents of a defined area of northwestern Italy were ascertained (N = 59). Cases were diagnosed according to the criteria of the "Quebec Cooperative Study on Friedreich's Ataxia (QCSFA)" with minor modifications. We identified 39 families with 47 probands and 12 secondary cases. Therefore ascertainment probability was 80%. Male to female ratio was 1:1. Pedigrees were compatible with autosomal recessive inheritance. Segregation ratio was 0.28 with both Weinberg's method and the "singles" method (under incomplete ascertainment). Point prevalence ratio was 1.2/100,000 population. Birth incidence rate was 1/36,000 live births. Gene frequency was estimated to be 1/191. The ratio of first-cousin marriages observed among parents of FA patients (3%) was lower than expected from Dahlberg's formula (8%). This finding is not compatible with the hypothesis of genetic heterogeneity for FA.
Clin Genet 1990 Sep
PMID:Friedreich's ataxia: a descriptive epidemiological study in an Italian population. 222 25

A pneumobelt with a positive pressure respirator was used for sleep for three patients with chronic respiratory insufficiency secondary to syringomyelia, poliomyelitis, and Friedreich's ataxia respectively. This device was found to be effective in improving and maintaining their daily functioning in the community or institute.
Arch Phys Med Rehabil 1989 Sep
PMID:Pneumobelt for sleep in the ventilator user: clinical experience. 277 92

An autosomal recessive disorder, abetalipoproteinemia or Bassen-Kornzweig disease, concerning two sisters are described. This disorder, clinically similar to Friedreich ataxia, should be examined by electrophysiological and laboratory procedures because of the possibility of treatment by high doses of vitamin A and E. The routine electrophysiological examination of the two sisters revealed a degenerative spinocerebellar and peripheral nervous process which confirmed the damage of large myelinated fibers, as reported in the literature: neurogenic muscular atrophy of distal muscles, polyphasic motor unit potentials, moderately decrease of lower motor and sensory nerve conduction rates, and reduced amplitude of evoked responses in sensory nerves and muscles. We stress out the diagnostic value of the heterogenous conduction decrease in the distal motor fibers, signs of processes of demyelination or distal regeneration.
Neurophysiol Clin 1988 Sep
PMID:[Role of the electrophysiologic examination in the diagnosis of Bassen-Kornzweig syndrome]. 284 98

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.
Am J Cardiol 1986 Sep 01
PMID:Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations. 294 67

This investigation is the first population-based study of survival in Friedreich's disease (FD). All cases of FD diagnosed between 1945 through 1984 among residents of a defined area of northwestern Italy were ascertained (N = 58). These patients were followed to death or to December 31, 1984 (whichever came first) to determine the patterns of survival. The 10-, 20-, and 30-year survival rates were respectively 96%, 80%, and 61%, suggesting a better prognosis than previously reported. Survival of FD patients was poorer than expected from the general population. Survival for males was poorer than for females even after adjustment for expected survival. Age of onset was not a significant prognostic factor. Survival for patients diagnosed in 1960 or later was better than for those diagnosed before 1960; however, the difference was not statistically significant.
Neurology 1988 Sep
PMID:Friedreich's disease: survival analysis in an Italian population. 341 92

Amantadine hydrochloride (AH) was orally administered to 16 patients with Friedreich's ataxia. We evaluated patient response with the functional ataxia scoring scale and calculated a total disability score. The mean percent improvement of the total disability score was 29.5%; for ambulatory patients alone it was 45.5%. No significant side effects were encountered. AH appears to be a safe and effective symptomatic treatment of Friedreich's ataxia.
Neurology 1988 Sep
PMID:The treatment of Friedreich's ataxia with amantadine hydrochloride. 229 76

A study of 82 fatal cases of Friedreich's ataxia showed that over half the patients died of heart failure while nearly three-quarters had evidence of cardiac dysfunction during life. A high incidence of diabetes mellitus (23%) was another finding, and four patients developed diabetic ketosis terminally.
Br Med J 1968 Sep 14
PMID:Study of fatal cases of Friedreich's ataxia. 567 14


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