Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Electroencephalographic studies have been done in two groups of hereditary ataxia: a group bearing the classical features of Friedreich's ataxia and a group clinically different described as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The qualitative anomalies observed in the two groups were similar and were comparable with the data reported in the literature. However, the main difference between the two groups is the greater incidence of EEG abnormalities in the ARSACS group, which suggests more involvement of the cortical and subcortical structures. This is reinforced by the lower I.Q. performance in the latter patients. Some comments are made about focal EEG findings, behavior and I.Q. In general, EEG was not considered a valuable instrument for diagnosis since no qualitative electric pattern could be identified. With regard to prognosis, EEG cannot be used as a criterion, since there is no relation between the degree of anomalies and the severity of the disease and since EEG does not worsen with the progression of the disease.
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PMID:Electroencephalographic findings in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 48 9

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

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

Among 300 patients affected by hereditary ataxia, 94 received the diagnosis of Friedreich's disease, 12 of Late Onset Friedreich's disease, 27 of Early Onset Cerebellar Ataxia with retained tendon reflexes, 10 of Progressive Myoclonic Ataxia, 4 of Ataxia with hypogonadism and 2 of Ataxia with hearing loss. Only Friedreich's disease appears clinically homogeneous, whereas the others are not specific entities and each of them probably includes different diseases.
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PMID:Early onset hereditary ataxias of unknown etiology. Review of a personal series. 129 85

Based on the hereditary ataxias concepts and a large field survey, the authors analyzed 392 cases of spino-cerebellar degeneration belonging to 188 families. Two main clinical groups were identified: 227 cases of Friedreich ataxia and 74 cases of cerebellar hereditary ataxia of P. Marie type. The association in the same patient of peroneal atrophy of Charcot Marie type with Friedreich ataxia (17 cases) or P. Marie cerebellar hereditary ataxia (13 definite cases and 13 probable) was the most striking finding. "Forme fruste", incomplete form or complex form of Friedreich ataxia were present in some families while in some others there was spastic paraplegia or pure Charcot Marie Tooth disease. This clinical heterogeneity in families of spino-cerebellar degeneration is discussed.
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PMID:[Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias]. 178 Jun 8

The activity of 7 mitochondrial enzymes, fumarase, NAD-malate dehydrogenase (MDH), citrate synthase (CS), valine dehydrogenase (VDH), succinate dehydrogenase (SDH), glutamate dehydrogenase (GDH), pyruvate dehydrogenase complex (PDHC) has been measured in platelet preparations from patients affected by Friedreich's ataxia (FA), dominant and non-dominant olivopontocerebellar atrophy (DOPCA, NDOPCA) and normal individuals. Significant decreases of GDH (P less than 0.01), PDHC (P less than 0.01), VDH (P less than 0.05) and SDH (P less than 0.05) activities were observed in FA patients. Significant decreases of GDH (P less than 0.01), PDHC (P less than 0.01), VDH (P less than 0.05), SDH (P less than 0.05) and CS (P less than 0.05) activities were Observed in ND-OPCA patients, whereas in DOPCA patients only GDH activity was significantly (P less than 0.05) decreased. In 8 of 10 patients with FA and in all patients with NDOPCA the activity of one or more of 4 enzymes, i.e. GDH, VDH, SDH, PDHC, was lower than the lowest of control values. Four of 6 patients with DOPCA had GDH activity lower than the lowest of control values. These results indicate that abnormalities of mitochondrial metabolism is a constant element in hereditary ataxia and suggest that the alteration primary leading to the different types of ataxias should be related to mitochondrial oxidative metabolism, at least at a regulatory level.
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PMID:Abnormalities of mitochondrial enzymes in hereditary ataxias. 281 70

Urodynamic exploration with cystometry was performed at random on 55 of the 195 patients suffering from hereditary spinocerebellar degeneration (Friedreich's disease 43 cases, Pierre-Marie hereditary ataxia nine cases, Strumpell-Lorrain disease three cases). The authors observed disturbances in continence without urinary disorders, even when the bladder was atonic. In the case of Friedreich's disease, among the 18 patients with urgent urination or with urinary leakage, the bladder was found to be normal in only two cases. Although 25 patients evidenced no urinary disturbances, a through study revealed nine abnormal bladders. In the case of Pierre-Marie disease, six normal bladders and three pathological bladders were found. A single abnormal bladder was found in Strumpell-Lorrain disease. Two types of pathological bladder were observed: the atonic bladder was compared with the traumatic bladder, and was found primarily in conjunction with peripheral sensory disturbances. The hypertonic bladder appears when sensory involvement is not evident. The authors discuss the pathophysiology of these disturbances of continence.
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PMID:[Continence disorders in hereditary spinocerebellar degeneration. Comparison of clinical and urodynamic findings in 55 cases]. 649 33

Pattern-reversal visual evoked potentials (PRVEP) were evaluated in 24 patients from 18 separate families with various forms of hereditary ataxia and spinal degeneration. Abnormally delayed latencies were found in 3 of 5 patients with classic Friedreich's ataxia, 1 patient with dominant spastic paraparesis, and 1 patient with recessive dentatorubrospinal degeneration. Fifteen other patients with several different types of dominant and recessive hereditary ataxias had normal PRVEP latencies, including 1 patient with bilateral optic atrophy. Testing of PRVEP will be useful in the clinical delineation of the genetic ataxias and spinal degenerations, and, when interpreted with caution, should be an additional variable evaluated in the differentiation of these disorders from multiple sclerosis.
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PMID:Pattern-reversal visual evoked potentials in the hereditary ataxias and spinal degenerations. 722 89

Friedreich's ataxia is one of the best defined and most common forms of hereditary ataxia of unknown aetiology. It is transmitted in an autosomal recessive manner, appearing sporadically, usually in childhood or adolescence. The case of an elderly patient with a possible diagnosis of late-onset Friedreich's ataxia is reported; this is thought to be the only such case in the literature. The 91-year-old Anglo female presented with ataxia that had been progressive over the last 5 years. Magnetic resonance imaging scans of the head revealed mild peripheral cerebellar atrophy and moderate cerebral atrophy. The patient's parents were unaffected but two of her six siblings had had Friedreich's ataxia starting in childhood, and four of her grandfather's siblings had had an undiagnosed illness that left them in wheelchairs early in life. Friedreich's ataxia was diagnosed in view of the strong family history and non-revealing magnetic resonance imaging of the brain.
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PMID:Friedreich's ataxia in the elderly. 777 61

Eighty one patients with the clinical diagnosis of non-hereditary or hereditary spinocerebellar degeneration were examined by magnetic resonance imaging (MRI). The MRI findings were subdivided into non-cerebellar atrophy, cerebellar atrophy without and with apparent enlargement of the fourth ventricle as a result of atrophy of the middle or superior cerebellar peduncles. The first pattern of non-cerebellar atrophy included ataxias such as Friedreich's ataxia and Machado-Joseph disease (MJD; type II). In the patients with MJD, atrophy of the brainstem was frequently recognized. The second pattern largely included late cortical cerebellar atrophy and hereditary ataxia of Holmes type. The third pattern was subdivided further into atrophies of the middle and superior cerebellar peduncles. The pattern of the former included olivo-ponto-cerebellar atrophy (OPCA) and hereditary ataxia of Menzel type, and the pattern of the latter included MJD and dentato-rubro-pallido-luysian atrophy (DRPLA). In the patients with OPCA and hereditary ataxia of Menzel type, increased signal intensity on T2-weighted image was always observed in the transverse pontine fibers, middle cerebellar peduncles. In several patients with MJD and DRPLA, atrophy of both cerebellar peduncles was demonstrated, but abnormal signal intensity was not observed in the pontocerebellar areas.
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PMID:[Clinical types of spinocerebellar degeneration and evaluation with MR imaging]. 817 28


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