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)

A study of 7 cases of Charcot-Marie-Tooth disease associated with a dyskinesia resembling benign essential tremor is presented. In 4 patients, the family history strongly suggested an autosomal mode of transmission, 2 cases were sporadic without an established genetic pattern and 1 was probably recessive. The distal parts of the upper and lower limbs showed imparied muscle strength with slight or no atrophy in 4 patients and conspicuous weakness and wasting in another 2. One patient was a chairbound. Although essential tremor and the tremor seen in these patients are clinically (phenotypically) similar it seems possible that they result from two different genotypes. Further, it seems that cases with Charcot-Marie-Tooth disease and "essential tremor" are not the result of the association of two separate dominant characteristics which are generally inherited as mendelian dominant traits. In spite of the diversity of the clinical manifestations of the peripheral neuropathy, the semiologically different types of essential tremor and the electrophysiological data, it is concluded that patients who develop a peripheral neuropathy on a familial basis and who exhibit clinical features of similar character, suffer from a common type of pathological disorder. Stress is laid upon the fact that Friedreich's ataxia and Charcot-Marie-Tooth disease share many clinical features. It is suggested that when Friedreich's ataxia and Charcot-Marie-Tooth disease seem to be present in the same individual and/or alternate in different members of the same family, the process is likely to be one of Charcot-Marie-Tooth disease. The value of the type of inheritance, natural history, clinical examination and electrophysiological data in differentiating Charcot-Marie-Tooth disease (with or without essential tremor) from other degenerative disorders is analyzed.
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PMID:Charcot-Marie-Tooth disease associated with "essential tremor": Report of 7 cases and a review of the literature. 93 72

This report concerns possible adverse health effects and benefits that might result from consumption of large amounts of choline, lecithin, or phosphatidylcholine. Indications from preliminary investigations that administration of choline or lecithin might alleviate some neurological disturbances, prevent hypercholesteremia and atherosclerosis, and restore memory and cognition have resulted in much research and public interest. Symptoms of tardive dyskinesia and Alzheimer's disease have been ameliorated in some patients and varied responses have been observed in the treatment of Gilles de la Tourette's disease, Friedreich's ataxia, levodopa-induced dyskinesia, mania, Huntington's disease, and myasthenic syndrome. Further clinical trials, especially in conjunction with cholinergic drugs, are considered worthwhile but will require sufficient amounts of pure phosphatidylcholine. The public has access to large amounts of commercial lecithin. Because high intakes of lecithin or choline produce acute gastrointestinal distress, sweating, salivation, and anorexia, it is improbable that individuals will incur lasting health hazards from self-administration of either compound. Development of depression or supersensitivity of dopamine receptors and disturbance of the cholinergic-dopaminergic-serotinergic balance is a concern with prolonged, repeated intakes of large amounts of lecithin.
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PMID:Effects of consumption of choline and lecithin on neurological and cardiovascular systems. 675 53