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)

Abetalipoproteinaemia (Bassen-Kornzweig syndrome), an autosomal recessive inherited disease, up to now has been described in 53 instances in the world literature. Neurological symptoms were reported in 34 of them. Ataxia, loss of proprioceptive sensation, and areflexia characterize this disorder, resembling Friedreich's ataxia. Other signs, which may be inconstantly found, are weakness, diminution of cutaneous sensation, and in the later course an atypical retinitis pigmentosa. Laboratory examinations show acanthocytosis, lowered concentrations of serum cholesterol, triglycerides and phospholipids and as the pathognomonic feature of this disease absence of beta-lipoproteins. Reduced serum concentrations of fat soluble vitamin are secondary effects of this metabolic disorder. In a few cases there are connections to familial hypobeta-lipoproteinaemia, which is autosomal dominantly inherited. Therapeutic trials with a controlled dietary intake of fat may cause an improvement of clinical symptoms, additional doses of fat-soluble vitamin, if given during the early stages of the disease are said to prevent from retinopathy but do not seem to influence the development and course of neuropathy.
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PMID:[Neurological symptoms in a-beta-lipoproteinemia (author's transl)]. 25 73

The mean percentage of linoleate to total fatty acids in phosphatidylcholine and lysophosphatidylcholine fractions of serum phospholipids from neuropathic patients with HMN (hereditary motor neuropathy, also called distal type of progressive muscular atrophy), HMSN-I and HMSN-II (two types of peroneal muscular atrophy), and FA (Friedreich's ataxia) was reduced by approximately 10--20% (P less than 0.001). On the other hand, the mean percentage of nervonic acid in sphingomyelin was elevated by 9--20%. No significant difference was observed in phosphatidylethanolamine between neuropathic patients and control subjects. The mean concentration of phosphatidylcholine and sphingomyelin was also significantly reduced in neuropathic patients (except in HMN and HMSN-III). A significant correlation between endogenous 2-linoleoyl-sn-glycerol-3-phosphocholine and cholesteryl linoleate synthesis in vitro suggests that the decreased activity of phosphatidylcholine acyltransferase (EC 2.3.1.43; LCAT) in neuropathic patients is influenced by the fatty acid composition of their lipoprotein substrate. Furthermore, the reduction of phosphatidylcholine and of cholesteryl linoleate synthesis in vitro in neuropathic patients was affected by age and sex. It is unlikely that the reduced linoleate level in serum phosphatidylcholine for most, possibly all, of the inherited neuropathies studied here reflects a specific biochemical disorder. Possibly it reflects a more generalized biochemical alteration common to inherited neuropathy. One possibility is that biosynthesis of new membrane in axonal regeneration, segmental remyelination and Schwann cell hyperplasia may reduce the serum linoleate pool.
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PMID:Lipid abnormalities in hereditary neuropathy. Part 2. Serum phospholipids. 65 Feb 57

Friedreich's ataxia (FA) was investigated in Western Norway, an area comprising several isolated communities and with a population of 725,000 as at 1 January 1968. The prevalence of FA was estimated to be 1/100,000 in this population. An autosomal recessive mode of transmission appeared likely in all instances. The gene frequency was only 7-9.10 minus 5, but the consanguinity rate was high in the families observed. The mutation rate was relatively high at 1-6.10 minus 5. The clinical features displayed by the 10 examined patients agreed well with those observed by other investigators. Spinal and cerebellar ataxia dominated the clinical picture. In most cases signs of peripheral neuropathy were also observed. Epilepsy was seen in some cases, and also dementia. Unspecific neuropathy, defined according to a scoring system may represent disease manifestation in FA heterozygotes.
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PMID:Friedreich's ataxia in Western Norway. 112 51

An electrophysiologic and histologic study was performed on 18 patients affected by early onset cerebellar ataxia with retained tendon reflexes (EOCA). Sensory and motor conduction velocity (SCV, MCV) was measured along peripheral nerves in all patients, somatosensory (SSEP) and brainstem auditory evoked potentials (BAEP) were recorded in 13; cortical stimulation (CS) in 12, and sural nerve biopsy in 4 patients were also performed. The results as a whole allow a division of EOCA patients into 2 groups: with (7 patients) and without (11 patients) peripheral neuropathy. Among EOCA patients with neuropathy a differential diagnosis with Friedreich's disease patients was not possible according to BAEPs and CS, while SSEPs could differentiate 2 out 5 patients in whom they were performed.
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PMID:Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile? A comparison with Friedreich's ataxia. 146 54

Fine structural alterations of Schmidt-Lanterman incisures (SLI) were investigated in a series of 242 unselected sural nerve biopsies that had been examined for diagnostic purposes. The series included cases with Friedreich's ataxia, HSAN I, HMSN I-III, HMSN VI, tomaculous neuropathy, metachromatic leukodystrophy, ceroidlipofuscinosis, dysproteinemic neuropathies, and myotonic dystrophy, in addition to several neuropathies less-specifically classified as either of a predominantly demyelinating, axonal, or neuronal type. The following classification of SLI alterations is proposed: (A) abnormal inclusions; (B) changes in shape and dimension; and (C) modes of disintegration. Abnormal inclusions comprised membranous whorls, uniform and pleomorphous lysosome-like bodies, and accumulation of granular substances at the site of the major dense line, or granular deposits at the site of the intraperiod line of the myelin sheath. Variations of incisural shape and dimension included folding, dilatation, and pocket formation (compartmentalization). Disintegration at incisures comprised a fine, vesicular and a gross, vacuolar type. Various combinations of these changes were observed. The most frequent change consisted of membranous whorls, detected in SLI of 89 biopsies. They were most prominent in chloroquine neuropathy where they occurred in SLI as well as in the adaxonal and abaxonal cytoplasm of Schwann cells. Compartmentalization of the myelin sheath at incisures associated with formation of myelin loops was a frequent feature in myotonic dystrophy. It is concluded, that changes of incisural ultrastructure are sensitive indicators of human neuropathies offering clues to the type of the underlying pathomechanism.
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PMID:Fine structural evaluation of altered Schmidt-Lanterman incisures in human sural nerve biopsies. 155 44

To investigate subclinical sensory impairment in spinocerebellar degenerations, median nerve somatosensory evoked potentials (SEPs) were examined in 16 patients with chronic cerebellar ataxia who were originally diagnosed by clinical neurologists as having olivopontocerebellar atrophy (OPCA). Two types of abnormal SEP patterns were found in six patients. Two patients had the SEP pattern of peripheral neuropathy, which was also detected by peripheral sensory nerve conduction studies. Four patients had abnormal SEPs seen in patients with the lesions in the central nervous system (dorsal column, medial lemniscus). Magnetic resonance imaging (MRI) showed multiple sclerosis (MS). It is possible that clinically diagnosed OPCA sometimes includes a similar form of Friedreich's ataxia with subclinical sensory fiber neuropathy detected by SEPs and peripheral sensory conduction studies. In cases of lesions in the central nervous system demonstrated by both SEPs and MRI, there must be a follow-up in order to make a final diagnosis. In those cases, an alternative diagnosis of MS must be considered when the temporal profile of symptoms and signs characteristic of MS is observed.
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PMID:Two types of abnormal somatosensory evoked potentials in chronic cerebellar ataxias. 200 66

Thirty-four nonambulatory patients with progressive neuromuscular spinal deformity were surgically managed using a 1/4" U-shaped double rod construct with segmental instrumentation from T2 to the pelvis accompanied by posterior spinal fusion. Diagnoses included 17 patients with cerebral palsy, six with spinal bifida, and 11 with other diseases (spinal muscular atrophy, Friedreich's ataxia, polyneuropathy, nemaline myopathy, and polio). Twenty-three patients had single uncompensated thoracolumbar curves, and 11 had a double curve pattern. The mean preoperative major curve was 66 degrees (range, 22-132 degrees), the secondary curve 58 degrees (range, 23-84 degrees). No postoperative spinal support was used. Mean curve correction was 36 degrees or 54.6%. There were four major complications, including two implant failures requiring revision and two patients sustaining excessive intraoperative blood loss necessitating completion of the procedure in a second stage. There were two neurologic complications including one case of postoperative seizures and an L4 monoradicular neuropathy in a spina bifida patient. Four patients had temporary postoperative ileus, one gastroesophageal reflex, and four had urinary tract infections. There were no significant postoperative pulmonary complications. Excluding the patients with rod failure, mean loss of correction at mean follow-up of 21.3 months was 6.5%. The stability and curve correction obtained using this system supports its continued use in patients with progressive neuromuscular scoliosis.
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PMID:Unit rod segmental spinal instrumentation in the management of patients with progressive neuromuscular spinal deformity. 261 59

A case is presented of Dejerine-Sottas disease in a 12-year-old boy in which clinical signs made diagnosis of Friedreich's ataxia seem plausible. Based on marked slowing of motor conduction velocity, the sural nerve biopsy findings of a hypertrophic neuropathy with hypo- and demyelination of the nerve fibres, as well as the clinical history, the diagnosis of Dejerine-Sottas disease was made. ABR examination suggested involvement of brain stem at the roots and/or nuclei of the eighth cranial nerve, without involvement of higher structures.
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PMID:A case of Dejerine-Sottas disease with prominent ataxia and brain stem involvement. A clinical, electrophysiological, otoneurologic, and ultrastructural study. 282 63

Thermal thresholds were determined by a new technique, at wrists and ankles in 143 patients with peripheral neuropathies of diverse aetiologies. Ninety-nine percent of patients (141/143) had abnormalities of one or both thresholds. In only two patients with mild/early Friedreich's ataxia were thermal thresholds normal. Electromyography was performed and fastest motor nerve conduction velocities and sensory nerve action potential parameters were measured in all the patients using conventional techniques in ulnar, median and sural nerves. Eighty-nine percent of patients (127/143) had one or more abnormalities on these electrophysiological studies. However, 39 of 40 patients with completely normal sensory nerve studies had an abnormality of one or more thermal thresholds. Eighty-six percent of 48 patients with normal sural nerve studies had abnormal thermal thresholds at the ankle. Sixty percent of 70 patients with normal sensory median and ulnar nerve studies had abnormal wrist thermal thresholds. This improved technique for the determination of thermal thresholds reveals that disturbances of thermal sensibility are present in the majority of peripheral neuropathies irrespective of aetiology. In some patients disturbances of thermal thresholds antedate the appearance of abnormalities on conventional electrophysiological investigation. The findings suggest that this technique has considerable usefulness in the detection of small nerve fibre dysfunction in the context of generalised neuropathy.
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PMID:An improved automated method for the measurement of thermal thresholds. 2. Patients with peripheral neuropathy. 298 19

The changes in evoked potentials following median and tibial nerve stimulation in nine patients with clinically defined Friedreich's ataxia are reported and discussed. The response originating in the brachial plexus (Erb's point potential) was absent or reduced in amplitude with no prolongation of peak latency, and the response generated in the cauda equina (N18) was absent in all cases. Conduction time from the brachial plexus to cervical spine and medulla oblongata was normal, whereas the central conduction time (N13a/N20, N13b/N20) was delayed. There was moderate to marked attenuation of the primary cortical response to median nerve stimulation. In one patient N20 disappeared during the course of the disease as opposed to the persisting subsequent negative wave, the latter thus simulating a very marked delay in the primary cortical response. Accordingly the cortical response to tibial nerve stimulation, which was only present in two patients and was markedly delayed, might represent a later potential with the primary response absent. The findings are consistent with neuropathological descriptions of a dying back neuropathy with primary axonal degeneration concerning the 1st order sensory neuron. In addition there is evidence either of delayed conduction in 2nd and 3rd order sensory neurones or of abnormal synaptic transmission.
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PMID:Somatosensory evoked potentials following median and tibial nerve stimulation in patients with Friedreich's ataxia. 367 95


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