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)

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

Blood thiamine levels in ataxia patients were studied. No significant differences were found between 30 patients with Friedreich's ataxia and 29 patients with olivopontocerebellar atrophy (OPCA) compared with control subjects. Both OPCA and Friedreich's ataxia patients presented significantly lower cerebrospinal fluid thiamine levels than their controls (p less than 0.001 and p less than 0.04 respectively). These results, discussed in terms of the high degree of cerebellar atrophy on CT scans in OPCA v Friedreich's ataxia patients, seem to correlate with cerebellar thiamine turnover and content.
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PMID:Thiamine status in inherited degenerative ataxias. 153 20

Single photon emission computed tomography assessments were conducted in normal controls (n = 25), patients with unilateral cerebellar infarctions (n = 4), patients with olivopontocerebellar atrophy (OPCA; n = 15) and patients with Friedreich's ataxia (FA; n = 6). In subjects with unilateral cerebellar infarctions, crossed cerebellar-cortical diaschisis was observed: reduced cerebellar hexamethylpropyleneamine oxime (HMPAO) uptake was invariably accompanied by a diminution of HMPAO in the contralateral basal ganglia and frontoparietal cortex. OPCA and FA patients had various degrees of decreased HMPAO uptake in both the cerebellum and cerebral hemispheres.
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PMID:Single photon emission computed tomography (SPECT) in cerebellar disease: cerebello-cerebral diaschisis. 175 68

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

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

We gave phosphatidylcholine orally at a daily dosage of 9 grams for 4 years to 20 subjects with Friedreich's ataxia (FA) and 24 with olivopontocerebellar atrophy (OPCA). There was no clinical improvement during the follow-up compared with 12 ataxic patients (six FA and six OPCA) who did not receive any treatment. A 6-month trial at a double dose did not have any significant effect. This study indicates that phosphatidylcholine does not change the natural course of ataxias.
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PMID:Lack of efficacy of phosphatidylcholine in ataxias. 335 29

Employing the clinical signs of diseases the authors compared characteristics of different hereditary ataxias (Friedreich's ataxia, familial spastic paraplegia, Marie's disease, olivopontocerebellar atrophy, Roussy-Levy syndrome, and Charcot-Marie neural amyotrophy). It is emphasized that clinico-genealogical examination is essential for the identification of the nosological form of the disease.
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PMID:[Clinical characteristics of hereditary ataxia]. 338 7

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

Brainstem auditory (BAEP) and somatosensory (SEP) evoked potentials to median and peroneal nerve stimulation were investigated in 25 patients with neurodegenerative system disorders: 9 Friedreich's ataxia, 7 hereditary motor sensory neuropathies, 3 familial spastic paraplegia, 3 olivopontocerebellar atrophy, 1 ataxia telangiectasia and 1 abetalipoproteinemia. BAEPs were abnormal in 39%, SEPs to both upper- and lower-limb stimulation were abnormal in 63%. Serial evoked potential testing paralleled the clinical progression. SEPs were more frequently and severely altered than BAEPs suggesting that SEP testing may be a more sensitive indicator of early involvement of afferent pathways in these disorders.
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PMID:Somatosensory and brainstem auditory evoked potentials in neurodegenerative system disorders. 356 72

Brainstem auditory evoked responses were recorded in 18 patients with spinocerebellar ataxia, seven with Friedreich's ataxia, four with late-onset cerebellar degeneration, and seven with olivopontocerebellar atrophy. All patients had normal hearing. BAERs were abnormal in 10 cases (58%). Five of the seven patients with Friedreich's ataxia (71%) had grossly abnormal BAERs with wave I only being identified. Five of the patients with olivopontocerebellar atrophy (71%) had abnormal BAERs, whereas all patients with cerebellar degeneration had normal BAERs. The results indicate abnormalities of the brainstem auditory pathways in patients with spinocerebellar ataxias and show that the test is of value in the differential diagnosis of this group of disorders.
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PMID:Brainstem auditory evoked responses in hereditary spinocerebellar ataxias. 387 Apr 33


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