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)

The authors describe the results of electrophoresis studies of 111 cerebrospinal fluids from 110 patients with various spinocerebellar degenerative diseases (58 cases of Friedreich's disease, 14 of Pierre-Marie's ataxia, 12 of Strumpell-Lorrain paraplegia, 23 cerebellar atrophies, and 4 cases of Roussy-Levy disease). The degenerative profile of the electrophoresis findings were characterized by an overall reduction in CSF proteins, an increase in pre-albumin, and a reduction in gammaglobulin, and this was noted in 82 cases (73.8 p. 100). Low levels (less than or equal to 0.17 g/l) of proteins were observed in 19 cases (17.1 p. 100), and increased pre-albumin in 43 cases (38.7 p. 100). Reduced gammaglobulin was present in 20 cases (18.0 p. 100), and the cerebrospinal fluid was normal in only 29 cases (26.1 p. 100). These modifications could result from a particular type of physiopathological process of cell degeneration in the nervous system.
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PMID:[Degenerative changes in cerebrospinal fluid electrophoresis recordings during spinocerebellar hereditary degenerative disorders. A study of 111 cases (author's transl)]. 615 84

Protein patterns of cultured fibroblast and hair root lysates from healthy controls and patients with genetic diseases (Duchenne muscular dystrophy, Friedreich's ataxia, Marie's ataxia, Lesch-Nyhan syndrome, maple syrup urine disease, and trisomy 13, 18 and 21) were obtained with two-dimensional electrophoresis. The analysis of these patterns in 39 gels by visual comparison revealed differences in the presence and absence of 20 specific protein spots. However, this variability, which has been observed in healthy controls as well as in patients, could not provide a diagnosis for a specific genetic disease. Only in one case - trisomy 18 - was an additional spot observed, which was not present in any of the other gels.
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PMID:High resolution protein mapping in fibroblast cell lines and hair roots from patients with genetic disease. 730 19

We present here 5 patients with hereditary cerebellar ataxia with peripheral neuropathy and mental retardation as determined by clinical, pathological, and molecular studies. The most characteristic features of this disorder, in contrast to Friedreich's ataxia, were early onset of ataxic gait, mental retardation, and a marked atrophy of the cerebellum. Sural nerve biopsy showed a reduction of myelinated fibers. The expansion of a GAA triplet repeat within the first intron of the frataxin gene, which causes Friedreich's ataxia, was not identified in any of the patients. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation represents a specific clinical entity that so far has only been described in Japan.
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PMID:Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation. 1068 65

A retrospective study of Friedreich's ataxia was conducted from january 1960 to december 1997. Eighten cases had been collected. Friedreich's ataxia was the second disorder after Pierre Marie's ataxia among inherited ataxia. Parental consanguinity has been found in 27.77% of cases. The sex-ratio was 2.6 for males. 66,67% of Friedreich's ataxia cases began after 25 years. Clinical signs were: cerebellar ataxia, sensitive disorders in 70%, pyramidal syndrom and cardiomyopathy in 22.22%, bones dysmorphy in 50% of cases. Electromyography indicated severe axonopathy of members with decreased somesthesic potentials in six cases. Glycaemia was normal in all cases. Clinical future presented wide variation between one and fourth years old.
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PMID:[Friedreich's disease in the department of neurology in Dakar]. 1577 73