Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026837 (muscle rigidity)
 1,077 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The neurobiological aspects of human neural transplants are far from being understood. We have approached their study by means of a multidisciplinary working team. Nine patients with Parkinson's disease were subjected to open brain surgery for grafting of autologous adrenal medulla. Not all patients improved. Those patients that did so showed different patterns of improvement. Rigidity was the sign most relieved in this group of patients. Electroencephalographic changes were attributable to surgical manipulation. High-performance liquid chromatographic quantification of catecholaminergic metabolites did not correlate with post-grafting outcome. Biopterin levels showed a significant increment after surgery. More interdisciplinary studies ought to be done on neural transplants.
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PMID:Multidisciplinary analysis of the effectiveness of autologous neural transplant (adrenal medulla) as treatment of Parkinson's disease. 208 Mar 46

We report a case of a 46-year-old Japanese woman with hereditary progressive dystonia with marked diurnal fluctuations and dopa-responsive dystonia (HPD/DRD). She developed difficulty in walking at the age of 44 years due to bradykinesia as well as hand tremors, muscle rigidity, increased tendon reflexes and mild dystonia in the lower extremities, all of which responded remarkably to low doses of levodopa (150 mg/day). Biopterin and neopterin concentrations in the cerebrospinal fluid (CSF) were decreased. Analysis of the guanosine 5'-triphosphate cyclohydrolase I (GCH1) gene revealed a novel mutation (W53X) in one allele. The GCH1 activity that was expressed in mononuclear blood cells was almost half the normal value (usually 2-20% of the normal value (39.0+/-9.2 pmol/ml) in patients with HPD/DRD). The relatively conserved GCH1 activity that is expressed in stimulated peripheral blood mononuclear cells may be related to the late clinical symptoms in this patient.
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PMID:A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene. 1628 69