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)

In contrast to the distal sensory response, the somatosensory evoked response (SSER) is detectable in patients with A-alpha sensory fiber diseases such as Friedreich's ataxia. In four patients with this disease a combined histological and electro-physiological investigation of sensory propagation was performed. The sural nerve was analyzed in terms of the various fiber diameters and the distal sensory and somatosensory evoked cortical responses recorded after sural and median nerve (finger) stimulation. A distinct evoked response could be detected with rather low amplitudes and retarded latency times, while in general no distal sensory response was found. The anatomical physiological consequences are discussed.
J Neurol 1978 Dec 22
PMID:Somatosensory evoked response in controlled A-alpha sensory fiber disease. 8 60

The activities of the aminotransferases, GOT and GPT, were determined in the serum and cerebrospinal fluid of patients with Parkinson's disease, Huntington's chorea, Wilson's disease, amyotrophic lateral sclerosis (ALS), Friedreich's ataxia, phenylketonuria, and head injuries. 1. In patients with Huntington's chorea the activity of SGOT was lower than in controls (P = 0.02); in Friedreich's ataxia LGPT activity was decreased (P less than 0.001); in patients suffering from ALS SGOT (P = 0.005), SGPT (P less than 0.001) and LGOT (P less than 0.001) activities were increased. 2. Long-term treatment of Parkinson's disease and Wilson's disease with L-dopa resulted in an increase in SGOT, LGOT, and SGPT activity over approximately 2 months, with subsequent normalization of these enzyme activities in spite of continued therapy. Guanidine treatment led to an increase in aminotransferase activities in patients with ALS. Penicillamine caused a decrease in SGOT and SGPT activities in Wilson's disease. These results illustrate the necessity of taking therapeutic measures into account in the interpretation of data on aminotransferase activities.
Wien Klin Wochenschr 1975 Dec 12
PMID:[The activity of aminotransferases in serum and cerebrospinal fluid in neurological diseases (author's transl)]. 12 63

The authors investigated 10 ambulant patients with myotonic dystrophy, under 40 years of age (mean 22.3 years) and free of subjective heart complaints. Not only Ecg alterations but also kinetocardiographic changes and anomalies of the systolic intervals were rarer and milder than those found in patients with other neuromyopathies, namely Friedreich's disease and Duchenne's disease. This observation suggests that, at least in older patients, not all the cardiac alterations usually attributed to myotonic dystrophy are really imputable to the disease. On the other hand, the observed echocardiographic alterations (reduction of per cent systolic-diastolic variation of internal diameter of the left ventricle and/or the ejection fraction) apparently indicate an early tendency to modification of left ventricular function in patients with myotonic dystrophy. Since other authors have found cardiac anomalies in this disease before the onset of any neurological manifestations, the possibility emerges that some cases of myocardial disease interpreted as "primitive" might in reality be secondary to undetected myopathy.
Z Kardiol 1979 Dec
PMID:On some cardiological aspects of Steinert's disease (myotonic dystrophy). 54 5

Two unrelated patients with Friedreich ataxia were deficient in the activity of the enzyme lipoamide dehydrogenase (LAD). The enzymes from the patients' platelets differed significantly from controls in activity, in KM for lipoamide, and in KM for NADH. The data are consistent with a structural mutation of the gene coding for LAD.
Neurology 1978 Dec
PMID:Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia. 56 87

A patient with Friedreich's disease and chronic progressive external ophthalmoplegia is descirbed. An investigation was performed into the nature of the ocular motor disorders, which appeared clinically to be supranuclear. The EMG of the ocular muscles suggested myopathy. A specimen of ocular muscle was obtained by biopsy and examined with the light microscope and-for the first time-under the electron microscope. Signs of mitochondrial myopathy were found alongside neurogenic features. Postmortem examination of the central nervous system confirmed the diagnosis of Friedreich's disease with lesions of the motor cells in the anterior horn of the spinal cord. No evidence was found for a supranuclear or inernuclear origin of the ocular palsies, but 20-30 per cent of the neutrons in the nuclei III and IV were atrophic. Lesions of the non-medullated motor nerve fibres were also visible under the electron microscope. That the origin of the c. p. e. o. in this heredo-ataxia is neurogenic-nuclear is postulated on the grounds of the neuropathological and electronmicroscopic findings. Resemblances to the microscopic and submicroscopic and submicroscopic appearance of many types of "ocular myopathy" and "ophthalmoplegia-plus" throw doubt upon the myogenic character of these conditions. Possibly chronic, slowly progressive atrophy in the nuclear areas of the ocular motor nerves must in these cases also be held responsible for the c. p. e. o. Perhaps Moebius's Kern-Schwund theory may be revived after 85 years.
Acta Neurol Scand 1977 Dec
PMID:Chronic progressive external ophthalmoplegia in a heredo-ataxia: neurogenic or myogenic? A clinical, neuropathological and submicroscopic study. 60 73

The cardiac findings in two sibs with Friedreich's ataxia are described. The clinical signs were suggestive of hypertrophic obstructive cardiomyopathy. During left heart catheterization a systolic pressure gradient across the left ventricular outflow tract could be provoked by an infusion of isoprenaline. Left ventricular angiocardiograms and echocardiograms showed gross thickening of the interventricular septum. In one patient a systolic anterior movement of the anterior leaflet of the mitral valve was seen. The importance of serial echocardiographic examination for patients with Friedreich's ataxia is emphasized.
Br Heart J 1976 Dec
PMID:Hypertrophic cardiomyopathy in Friedreich's ataxia. 103 80

Friedreich ataxia is a neurodegenerative disorder with autosomal recessive inheritance. Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning. The two closest DNA markers, D9S5 and D9S15, show very tight linkage to FRDA, making difficult the ordering of the three loci. We present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15. Haplotype data were used to investigate genetic homogeneity of the disease in these geographically related families. A meiotic recombination was found in a nonaffected individual, which excludes a 150-kb segment, including D9S15, as a possible location for the Friedreich ataxia gene and which should orient the search in the D9S5 region.
Am J Hum Genet 1992 Dec
PMID:Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus. 146 17

Jaw jerk was studied in 10 subjects with Friedreich ataxia, and 10 normal subjects for comparison. Electromyographic recording from the right masseter muscle showed a reflex response in all cases, in contrast to the absence of tendon reflexes in the four limbs for the ataxics. The mean latency of the jaw jerk was normal. These observations indicate that the jaw reflex arc is preserved, and that no damage to the trigeminal neuromuscular pathway exists for all the patients observed.
Electromyogr Clin Neurophysiol 1992 Dec
PMID:Electromyographic recording of the jaw reflex in Friedreich ataxia. 149 72

Seven patients, six suffering from amyotrophic lateral sclerosis (ALS) and one from Friedreich ataxia, were treated with a placebo i.v. infusion during the first day and with TRH-T i.v. infusion at a rate of 2 mg/h for 8 h daily (total daily dosage 16 mg) on the 2 consecutive days. Continuous blood pressure (BP) and EKG monitorings were performed during 3 days infusion. Blood samples were collected for endocrinological evaluations. The neurological evaluation after acute TRH-T treatment showed an objective improvement in 3 of the 8. We found significantly higher values of systolic (max. difference of 10.1 mm Hg) and diastolic (max. difference of 8.8 mm Hg) BP than during placebo, beginning from the 5th h of the infusion (p less than 0.05). A trend in progressive increase of the heart rate (HR) reached statistical significance (p less than 0.01) at the 8th h of the second TRH-T infusion. The cardiovascular changes during the i.v. continuous TRH-T infusions were clinically irrelevant and never required the interruption of the treatment.
Acta Neurol Scand 1991 Dec
PMID:Continuous intravenous infusion of TRH-T: clinical, cardiovascular and endocrinological effects. 179 54

Local cerebral metabolic rate for glucose was studied with 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography (PET) in 22 patients with Friedreich's ataxia and 23 age-matched normal control subjects. The diagnosis of Friedreich's ataxia was established by the history and physical findings and by excluding other diseases through laboratory investigations. PET studies revealed a statistically significant widespread increase of local cerebral metabolic rate for glucose in the brains of patients with Friedreich's ataxia who were still ambulatory, in comparison with normal control subjects. Nonambulatory patients with Friedreich's ataxia, in comparison with normal control subjects, had significantly increased local cerebral metabolic rates for glucose in the caudate and lenticular nuclei, but not in the other structures studied. The rate was significantly greater in ambulatory patients with Friedreich's ataxia than in nonambulatory patients in all structures studied except the caudate and lenticular nuclei. The data suggest that early in the course of Friedreich's ataxia, the local cerebral metabolic rate for glucose is increased extensively in the central nervous system, and as the disease progresses, it decreases in a regionally specific manner.
Ann Neurol 1990 Dec
PMID:Cerebral glucose hypermetabolism in Friedreich's ataxia detected with positron emission tomography. 228 62


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