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)

This review evaluates the theoretical background and experimental data behind a new development: the replacement therapy of deficient central cholinergic systems with the dietary precursors choline or lecithin. Cholinergic deficiency states are possibly present in five neurological entities: Huntington's chorea, Tardive Dyskinesia, Gilles de la Tourette's disease, Friedreich's ataxia and pre-senile dementia. Preliminary data from various laboratories, including our own, in each of these disorders indicate that some clinical improvement can occasionally be seen, and that this approach deserves further investigation.
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PMID:Emerging treatments: replacement therapy with choline or lecithin in neurological diseases. 14 19

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

Developments in the field of Huntington's disease have focused on the potential benefits of predictive testing. Markers have been described for autosomal dominant cerebellar ataxia and for certain subtypes of Friedrich's ataxia. Argentophilic neuronal and glial inclusions appear to be the first specific pathologic hallmark of multiple system atrophy. "Pure" hereditary spastic paraplegia is not a multisystem disorder of the central nervous system, but a monomorphic and stereotyped disease. Advances in Tourette's syndrome are limited because the presumed gene eludes identification. A new type of myoclonus, propiospinal myoclonus, has been described. Clinical and electrophysiologic criteria for defining primary orthostatic tremor have been proposed. Understanding of the neurophysiologic substrate of essential tremor and myoclonus is improving. New neurologic disorders presenting clinically with prominent movement disorder continue to be described.
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PMID:Choreas, hereditary and other ataxias, tics, myoclonus, and other movement disorders. 850 6