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)

Cranial CT in 39 patients (23 belonged to 8 families) with four different groups of hereditary ataxia (HA) showed mainly three combinations of atrophic findings: (1) cerebellar ataxia (CA, n = 17) had marked atrophy of the cerebellum and/or the brain stem combined with moderate cerebral atrophy; (2) an intermediate group consisting of hereditary spastic paraplegia (HSP, n = 10) and Friedreich's ataxia (FA, n = 7), both with moderate infra- and supratentorial atrophy; (3) atrophy was hardly demonstrated in the group of Charcot-Marie-Tooth disease (CMT, n = 5). HA cases with atrophy could be distinguished from multiple sclerosis (MS) by CT.
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PMID:Computed tomography in hereditary ataxias. 74 5

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.
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PMID:[T inversion in Friedreich's ataxia]. 96 28

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 electrophysiological study, comprehensive of peripheral sensory and motor conduction velocity (SCV, MCV), motor cortical stimulation (CS), median nerve somatosensory evoked potentials (SSEPs), brainstem evoked potentials (BAEPs) and sural nerve biopsy, was performed on 100 hereditary ataxia patients: 48 with Friedreich's ataxia (FA), 18 with Early Onset Cerebellar Ataxia (EOCA) and 34 with Autosomal Dominant Cerebellar Ataxia (ADCA). An early "peripheral" and "central" sensory impairment was observed in FA probably due to axonal loss and not related to disease severity or duration. On the contrary, BAEP and CS findings suggested a progressive involvement of the auditory and motor pathways. The presence of a non progressive sensory neuropathy allowed a distinction of EOCA patients in two groups: with and without peripheral neuropathy. The clinical and genetic heterogeneity was confirmed by the variability of evoked potential results. The ADCA patients showed the mildest degree of electrophysiologic abnormalities with an involvement of the peripheral pathways, both sensory and motor, more frequent than the central ones.
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PMID:[Clinical and electrophysiological findings in various hereditary sensory neuropathies]. 129 78

An electro-oculographic study has been performed in 11 patients affected by hereditary degenerative ataxias (5 Friedreich's ataxias, 4 olivopontocerebellar atrophies and 2 late onset cerebellar ataxias). Electrooculographic records were obtained during saccades, pursuit movements and fixed gaze. Saccadic latency, saccadic speed and morphologic features were studied. In Friedreich's ataxia ocular motility was less accurate than in olivopontocerebellar atrophy and in late onset cerebellar ataxia.
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PMID:[Eye movement disorders in hereditary degenerative ataxia. Electro-oculographic study of 11 cases]. 129 87

The classifications of hereditary ataxias (HA) proposed from 1907 to 1984 are reviewed. An analysis is provided of the possible variables in the classification of HA, including inheritance, known metabolic or other cause, localization of pathological lesions, clinical signs, natural history, epidemiology, diagnostic tools. Harding's classification is assumed to be the best clinical tool to support molecular genetics studies. However, we suggest the inclusion of Late Onset Recessive Cerebellar Ataxias in Harding's classification. Some exceptions must be considered for the diagnostic criteria of Friedreich's disease. Early Onset Cerebellar Ataxia with retained tendon reflexes (EOCA) is probably a heterogeneous entity.
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PMID:Classifications of hereditary ataxias. A critical overview. 129 84

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.
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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

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

An epidemiological survey of hereditary ataxias and paraplegias was conducted in Molise, a region of Italy (335, 211 inhabitants on 1 January 1989). Total prevalence was 7.5 x 10(-5) inhabitants (95% confidence limits 4.8-11.1). There were 7 patients with Friedreich's disease, 5 with early onset cerebellar ataxia with retained tendon reflexes, 4 with ataxia-telangiectasia, 9 with hereditary spastic paraplegias (2 autosomal dominant and 7 autosomal recessive cases). There was no patient with autosomal dominant cerebellar ataxia.
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PMID:Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. 151 13

Electrophysiological findings in 14 patients with non-Friedreich early onset cerebellar ataxia are reported. Nerve conduction studies showed reduction of sensory action potential amplitudes in 7 cases associated in 3 with a decrease of sensory conduction velocities. Six subjects also exhibited a chronic neurogenic pattern to standard needle electromyography. Motor conduction velocities were normal in all cases; only two cases showed an increase in distal motor latencies. Short-latency somatosensory evoked potentials following median nerve stimulation revealed a prolonged central conduction time (N13-N20 interpeak latency) in 7 cases, compatible with supraspinal damage of the somatosensory pathways. These electrophysiological data are compared with those obtained in two reference groups of patients, respectively affected by Friedreich's ataxia and olivo-ponto-cerebellar atrophy.
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PMID:Nerve conduction study, electromyography and somatosensory evoked potentials in non-Friedreich early onset cerebellar ataxia. A comparative study with Friedreich's ataxia and late onset cerebellar ataxia. 160 Aug 84


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