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)

Vigabatrin (gamma-vinyl GABA; GVG), an irreversible inhibitor of GABA-transaminase, at a daily dose of 2-4 g, and a placebo were each administered orally for 4 months to 14 patients with cerebellar ataxia (9 with Friedreich's ataxia, 5 with olivopontocerebellar atrophy), in a double-blind, placebo-controlled crossover study. For the group as a whole, there was no significant difference between the GVG and placebo periods in any of the parameters of cerebellar symptomatology measured. Individually, one patient showed some improvement after 3 months of treatment with 2 g/day GVG. Tolerance to 4 g/day GVG was poor, whereas 2 g/day was well tolerated. The results suggest that agents which increase central GABA concentrations are not likely to be of benefit to patients with Friedreich's ataxia or olivopontocerebellar atrophy.
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PMID:A controlled study of oral vigabatrin (gamma-vinyl GABA) in patients with cerebellar ataxia. 346 25

A clinical and polygraphic sleep study was carried out in nine patients affected by heredoataxia (three by sporadic olivopontocerebellar ataxia (SOPCA), three by early onset cerebellar ataxia (EOCA) and three by Friedreich's ataxia). None of the patients complained about subjective sleep complaints. Polysomnographic findings showed a decrease in REM time in all the patients considered and a lower REM density in SOPCA and EOCA. A pattern of obstructive sleep-apnea was found in one case of SOPCA.
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PMID:Polygraphic sleep patterns in heredoataxia: a study of nine cases. 376 34

An intensive search over a two-year period for cases of cerebellar and spinocerebellar degenerations in Benghazi, Libya, made through polyclinics, university hospitals and a centre for the handicapped, revealed a total of 52 patients, among whom 30 were index cases; the remainder were detected on family study. Twenty-five patients lived in Benghazi, giving a crude prevalence of 4.8/100 000 population. There were 24 patients (10 families) with hereditary spastic paraplegia (HSP), 13 (9 families) with early onset cerebellar ataxia with retained tendon reflexes (EOCA), 3 with Friedreich's ataxia (FA), 5 (1 family) with late onset cerebellar ataxia (LOCA) with pigmentary retinal degeneration and autosomal dominant inheritance, 6 single cases of LOCA and 1 with ataxia telangiectasia. There were 14 families with definite autosomal recessive inheritance and only 2 with dominant transmission. The large family size (average of 6.2 children per married woman in the patient group) and the high rate of consanguineous marriages contribute to the high incidence of familial cases, especially those with autosomal recessive inheritance. Nerve conduction studies were normal in HSP and abnormal in EOCA and FA. Computed tomographic scans revealed atrophy of the brainstem and cerebellum in 3 cases of EOCA and 2 with LOCA. No indigenous forms of the disease were observed and the clinical features differed little from the descriptions in literature. However, the relative rarity of patients with FA, in comparison with other types of hereditary ataxias, is striking.
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PMID:Prevalence and pattern of spinocerebellar degenerations in northeastern Libya. 407 75

Pattern-reversal visual, auditory and somatosensory evoked potentials were recorded from 11 patients with hereditary cerebellar ataxia, 13 with familial spastic paraplegia and 7 with Friedreich's ataxia. In all the 31 patients the conduction velocity along the median and tibial nerves to the level of the spinal cord was normal. Five of the 7 patients with Friedreich's ataxia had reduced sural nerve sensory potentials. There was electrophysiological evidence of malfunction along one or several pathways within the CNS in 8 of the 11 patients with cerebellar ataxia, 4 of the 13 with familial spastic paraplegia, and in all 7 cases of Friedreich's ataxia. The increase in latency of visual, auditory and somatosensory evoked cortical potentials is attributed to nerve fibre loss in the central pathways with associated slowing of conduction.
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PMID:Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia. 616 5

The authors performed ambulatory electro-vectorcardiography polycardiography and echocardiography in 18 patients with typical Friedreich's disease, and 6 patients with atypical forms of hereditary spino-cerebellar ataxia classified on e basis of the degree of neurological involvement, without clinical signs of cardiocirculatory failure. The ECG and VCG recording commonly showed appearances suggestive of myocardial "necrosis" and were of little value in the differential diagnosis between typical and atypical forms of Friedreich's ataxia. This limitation also applied to the kinetocardiogramme which was sometimes pathological confirming the echocardiographic diagnosis of symmetric LV hypertrophy and of septal hypokinesia despite normal ECG and VCG. The systolic time intervals and echocardiographic parameters of the interventricular septum were more helpful in the differential diagnosis. Hypertrophic cardiomyopathy, usually symmetric, was observed in about 70 p. 100 of typical and only rarely in atypical forms of Friedreich's disease. The symmetric or asymmetric hypertrophy was associated with reduced left ventricular performance in less than 20 p. 100 of typical Friedreich's disease, systolic anterior motion of the mitral valve and other signs of dynamic left ventricular outflow tract obstruction were not observed in any of these patients. The correlations between the degree of neurological disability and the cardiac abnormalities, were, in general, disappointing compared with other reported series. The cardiac investigation of patients with Friedreich's disease remains valuable from the point of view of recent pathological hypotheses of a metabolic abnormality with eventual therapeutic implications.
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PMID:[Cardiologic aspects of Friedreich type heredoataxia]. 621 30

Autosomal dominant hereditary ataxias are heterogeneous groups of disorders in which cerebellar ataxia and pyramidal, extrapyramidal, and extraocular signs predominate. We studied a family with this type of disorder with evidence supporting a large-fiber sensory neuronopathy. Electrophysiologic, histologic, radiologic, and biochemical features were studied. Neuropathic features of some forms of autosomal dominant spinocerebellar degeneration are, therefore, believed to be due to a ganglioneuropathy similar to that described in Friedreich's ataxia.
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PMID:Large-fiber sensory neuronopathy in autosomal dominant spinocerebellar degeneration. 631 5

Cranial computerized tomography was carried out in 110 patients with cerebellar ataxia [53 with Friedreich's ataxia, 4 with Marie's spastic ataxia, 51 with cerebellar atrophy, and 2 patients with olivopontocerebellar atrophy). In CT scans, cerebellar atrophies are found to be of various localization and partially of characteristic distribution. CT, therefore, greatly helps to distinguish different types of cerebellar and spinocerebellar atrophies and allows the differentiation of cerebellar atrophies of various origins from other diseases, such as multiple sclerosis.
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PMID:Cranial computerized tomography in spinocerebellar atrophies. 695 61

Gamma-Vinyl GABA, an irreversible inhibitor of GABA-transaminase, was administered orally in two daily doses of 250 mg to 10 patients with cerebellar ataxia (9 with Friedreich's ataxia, one with olivo-ponto-cerebellar atrophy) for at least one month in an open study. No significant difference occurred in the disability scores of cerebellar symptomatology for the group as a whole, but seven patients showed some improvement in scores with treatment and two patients claimed marked subjective amelioration. Tolerance to Gamma-Vinyl-GABA treatment was excellent. These preliminary results suggest that further studies with well-tolerated agents which enhance CNS GABA-ergic function are warranted in patients with cerebellar ataxia.
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PMID:Effect of gamma-vinyl GABA in Friedreich's ataxia. 710 82

The use of orally administered choline chloride in the treatment of cerebellar and spinocerebellar ataxia was investigated by a short-term double-blind crossover trial in 20 patients with ataxia. These patients, who include 7 with Friedreich's ataxia, 7 with mixed spinocerebellar ataxia and 6 will primary cerebellar degeneration received placebo and 6g/day or 12g/day of choline with crossover at 6 weeks. Serum choline levels were measured 1 h after the first daily dose. Mild but significant improvement in upper limb co-ordination was noted in 3 patients with Friedreich's ataxia, 3 with mixed ataxia and 4 patients with primary cerebellar degeneration. Improvement in gait and lower limb co-ordination was observed in only 2 patients (one with cerebellar ataxia and 1 with mixed ataxia) There was no correlation between serum choline levels and clinical response to choline. Choline chloride produces a mild but functionally significant improvement in motor co-ordination in some patients with cerebellar and spinocerebellar ataxia.
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PMID:Choline chloride in the treatment of cerebellar and spinocerebellar ataxia. 722 61

Twenty patients are described with a distinctive clinical syndrome characterised by progressive cerebellar ataxia developing within the first two decades. This is associated with dysarthria, pyramidal signs in the limbs, normal or increased knee jerks and upper limb reflexes and in some instances sensory loss. Inheritance is probably autosomal recessive in the majority, if not all, of the cases. The preservation of tendon reflexes distinguishes this disorder from Friedreich's ataxia. Other important differences from Friedreich's ataxia are absence of optic atrophy, cardiomyopathy, diabetes mellitus and severe skeletal deformity. The prognosis was better in the present series than in cases of Friedreich's ataxia; patients remained ambulant, on average, for more than 10 years longer.
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PMID:Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia. 727 63


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