Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The patient was 56-year-old female, who suffered from ataxia and then fell into coma on the next day after she had moved from the sea level to an altitude of 4,200 m. After she was brought to lower altitude, consciousness recovered within several hours. For about 2 days thereafter, disorientation was observed, and she was diagnosed as AMS (acute mountain sickness). Only insomnia continued in chronic stage. The results of X-ray computed tomography (CT) on 25th day after the onset of the disease revealed no abnormal finding except the slightly increasing uptake of contrast material. Symmetrical low density regions were seen in bilateral basal ganglia after one year, and the globus pallidus lesions were confirmed by magnetic resonance imaging. In the past, cerebral edema has been reported in most cases of AMS, and the neurotic symptoms of AMS have been attributed to cerebral edema, while the essential condition of this disease is not yet elucidated. In the present case, the globus pallidus lesions could be identified through the following-up of the central nervous system by X-ray CT and MRI as the first attempt for the case of AMS. There has been no report of globus pallidus lesions in the cases of AMS. Whereas low oxygen partial pressure is the primary cause of AMS, and it is highly probable that the disorders in globus pallidus as reported in the cases of carbon monoxide poisoning, anesthetic accident, etc. are related to the occurrence of AMS.
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PMID:[A case of acute mountain sickness with bilateral lesion of pallidum]. 222 57

Today we distinguish cerebral (acute mountain sickness AMS, high altitude cerebral edema HACE) and pulmonal (high altitude pulmonary edema HAPE) altitude disorders. Incidence, predisposition and risk factors of all kinds of altitude sickness vary both individually and geographically. For practical reasons the leading symptoms are essential: altitude headache, ataxia and sudden loss of strength. Depending on the severity of symptoms the main emergency measures are: rest, descent or evacuation, warmth. Additional therapeutical measures can be helpful if a sudden evacuation to lower altitudes is delayed: oxygen, portable hyperbaric chamber, ibuprofen/naproxen, nifedipine, dexamethasone. Acetazolamide should not be used as an emergency therapy any more.
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PMID:[Diagnosis and therapy of acute altitude sickness]. 1096 Sep 57

We describe a novel genetic variant mouse that exhibited ataxia and male sterility, named the AMS mouse. It arose in autoimmune-prone MRL/lpr strain and putative ams mutation showed an autosomal recessive inheritance pattern. Clinical symptoms were first discernible at approximately 21 days of age and consisting of subtle sway of the trunk followed by failure to maintain still posture and appearance of abnormal walk, but no further worsening was noted with advancement of age. The abnormal motor coordination was ascribed to almost complete loss of Purkinje cells of the cerebellum. The cell loss in the Purkinje cell layer began before onset of ataxia and rapidly progressed towards near-complete loss by 6 weeks of age. Another symptom was male sterility due to severe oligozoospermia associated with cellular degeneration during spermatic differentiation in the seminiferous tubules. Thus, the effects of the genetic variation were apparent in two different organs after the development of their basic histological structures, and degeneration and loss of particular cell types in these two tissues produced overt clinical symptoms. Genetic pleiotropism, provided that the nature of genetic variation is of a single gene mutation, is discussed.
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PMID:Ataxia and male sterility (AMS) mouse. A new genetic variant exhibiting degeneration and loss of cerebellar Purkinje cells and spermatic cells. 1278 13