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)

Lipoamide dehydrogenase (LAD) kinetic values, Km and Vmax, were normal in 11 patients with Friedreich ataxia. Fibroblast activities of the pyruvate and alpha-ketoglutarate dehydrogenase complex, and LAD activities, were also normal. There was no reduction in oxidative decarboxylation of pyruvate, alpha-ketoglutarate, or several other substrates in intact fibroblasts. Methodologic differences may account for differences of opinion about putative abnormalities of the alpha-ketoacid dehydrogenase complexes.
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PMID:Friedreich ataxia. II. Normal kinetics of lipoamide dehydrogenase. 22 57

Two unrelated patients with Friedreich ataxia were deficient in the activity of the enzyme lipoamide dehydrogenase (LAD). The enzymes from the patients' platelets differed significantly from controls in activity, in KM for lipoamide, and in KM for NADH. The data are consistent with a structural mutation of the gene coding for LAD.
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PMID:Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia. 56 87

Twenty-one patients with Friedreich ataxia were examined and found to have a brisk jaw reflex. This previously unreported clinical finding contrasts with the impairment of tendon reflexes in the limbs and should not rule out the diagnosis of Friedreich ataxia.
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PMID:Jaw reflex in Friedreich ataxia. 57 34

A preliminary report is presented of the audiovestibular findings in 16 cases of typical Friedreich ataxia. Many ENG abnormalities of the central type were found, the most frequent being square waves, ocular dysmetria, and disorganized pursuit of the pendulum. The other abnormal findings were less frequent or less specific. Peripheral vestibular and auditory impairment were not the rule. Eventually, the electronystagmogram could become an early paraclinical screening test of Friedreich's disease.
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PMID:[Audiovestibular study in Friedreich's ataxia]. 73 74

Eleven Acadian families with Friedreich ataxia (FA) who were from southwest Louisiana were studied with a series of polymorphic markers spanning 310 kb in the D9S5-D9S15 region previously shown to be tightly linked to the disease locus. In particular, three very informative microsatellites were tested. Evidence for a strong founder effect was found, since a specific extended haplotype spanning 230 kb from 26P (D9S5) to MCT112 (D9S15) was present on 70% of independent FA chromosomes and only once (6%) on the normal ones. There was no evident correlation between haplotypes and clinical expression. The typing of an additional microsatellite (GS4) located 80 kb from MCT112 created a divergence of the main FA-linked haplotype, generating four minor and one major haplotype. A similar split was observed with GS4 in a patient homozygous for a rare 26P-to-MCT112 haplotype. These results suggest that GS4 is flanking marker for the disease locus, although other interpretations are possible.
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PMID:Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes. 134 94

Friedreich ataxia (FA) is a severe autosomal recessive neurodegenerative disease. The defective gene has been previously assigned to chromosome 9q13-q21 by demonstration of tight linkage to the two independent loci D9S15 and D9S5. Linkage data indicate that FRDA is at less than 1 cM from both markers. Previous physical mapping has shown that probes defining D9S15 (MCT112) and D9S5 (26P) are less than 260 kb apart and are surrounded by at least six CpG clusters within 450 kb, which might indicate the presence of "candidate" genes for FA. We isolated and characterized a 530 kb YAC (yeast artificial chromosome) contig that contains five of the CpG clusters. The YACs were used to search for new polymorphic markers needed to map FRDA precisely with respect to the cloned segment. In particular, we found a (CA)n microsatellite polymorphism, GS4, that detects 13 alleles with a PIC value of 0.83 and allows the definition of haplotypes extending over 310 kb when used in combination with polymorphic markers at D9S5 and D9S15.
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PMID:A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite. 135 54

The majority of patients with Friedreich ataxia present with gait ataxia. Congestive heart failure usually is a terminal event. We report a 9-year-old boy who developed congestive heart failure and thrombus formation in the left ventricle at age 5 years and then progressive ataxia as well as other features of Friedreich ataxia; therefore, congestive heart failure and thrombus formation may rarely be the initial findings in Friedreich ataxia.
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PMID:Congestive heart failure and cardiac thrombus as first presentations of Friedreich ataxia. 138 25

Friedreich ataxia is a neurodegenerative disorder with autosomal recessive inheritance. Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning. The two closest DNA markers, D9S5 and D9S15, show very tight linkage to FRDA, making difficult the ordering of the three loci. We present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15. Haplotype data were used to investigate genetic homogeneity of the disease in these geographically related families. A meiotic recombination was found in a nonaffected individual, which excludes a 150-kb segment, including D9S15, as a possible location for the Friedreich ataxia gene and which should orient the search in the D9S5 region.
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PMID:Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus. 146 17

Jaw jerk was studied in 10 subjects with Friedreich ataxia, and 10 normal subjects for comparison. Electromyographic recording from the right masseter muscle showed a reflex response in all cases, in contrast to the absence of tendon reflexes in the four limbs for the ataxics. The mean latency of the jaw jerk was normal. These observations indicate that the jaw reflex arc is preserved, and that no damage to the trigeminal neuromuscular pathway exists for all the patients observed.
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PMID:Electromyographic recording of the jaw reflex in Friedreich ataxia. 149 72

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


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