Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We examined 17 patients with progressive dystonia with diurnal variation, a dominantly inherited, generalized dystonia that begins in childhood. Dystonia was typically least severe in the morning, increased as the day continued, and markedly improved with low doses of carbidopa-levodopa. We also studied the patient's parents, children, and siblings from seven families. We observed a spectrum of neurologic involvement, phenotypic variability among siblings, and incomplete genetic penetrance. Progression of motor impairment over several years, which reaches a plateau during late adolescence, is useful in distinguishing progressive dystonia with diurnal variation from cerebral palsy and degenerative disorders. It is important to recognize the subtle, as well the extreme, manifestations of progressive dystonia with diurnal variation because it is treatable. Genetic counseling must consider that mildly affected parents with little or no disability may have profoundly affected children. Appreciation of the phenotypic variability and degree of genetic penetrance will permit detailed genetic and biochemical analyses.
Arch Neurol 1991 Sep
PMID:Clinical and genetic analysis of progressive dystonia with diurnal variation. 195 13

Trimipramine and clozapine show some similarities in receptor-binding profiles. Both have the same dissociation constant for D2-receptors and marked binding potencies for H1-receptors and muscarinic acetylcholine receptors. Based on these similarities an antipsychotic efficacy of trimipramine might be postulated. To generate hypotheses 15 schizophrenic patients with a BPRS total score of at least 50 were treated with trimipramine up to 400 mg per day. Four patients deteriorated under this treatment and had to be withdrawn from the study between the 4th and the 10th day. One patient stopped participating after the 15th day due to lack of improvement. These drop-outs showed a mean impairment in BPRS total score from 56 at baseline to 66 at endpoint. Ten patients were treated for 4 to 5 weeks successfully and improved on the BPRS from 57 at baseline to 31 at endpoint. High-dose trimipramine was tolerated well. In schizophrenic patients the expected sedative effect was small. One patient developed a modest parkinsonism, no acute dystonia was seen.
Pharmacopsychiatry 1990 Sep
PMID:High-dose trimipramine in acute schizophrenia. Preliminary results of an open trial. 197 73

The effects of dopamine D1 and D2 receptor agonists and antagonists were studied in eight Cebus apella monkeys previously treated with haloperidol for two years. SKF 81297 (specific D1 receptor agonist) induced oral hyperkinesia of variable intensity (P less than 0.01): some of the monkeys developed extreme lip smacking, tonque protrusions and licking movements while others developed only slight lip movements. A combined treatment of SKF 81297 with LY 171555 (full D2 receptor agonist) or SCH 23390 (D1 receptor antagonist) inhibited the oral hyperkinesia induced by SKF 81297 (P less than 0.01, P less than 0.02, respectively). Raclopride (D2 receptor antagonist) did not statistically change oral hyperkinesia (P less than 0.2), although five monkeys showed increased oral movements; most of these monkeys had pre-existing hyperkinesia. Treatment with SCH 23390 or raclopride resulted in an identical dystonic/cataleptic syndrome. SKF 81297 inhibited the dystonia induced by SCH 23390, while it did not significantly affect raclopride dystonia. The investigation indicates that oral dyskinesia may be related to an imbalance in D1 receptor and D2 receptor stimulation in favor of D1 receptors. The question now is whether D1 receptor antagonists, which may have antipsychotic potential, will produce tardive dyskinesia after long-term use.
Eur J Pharmacol 1990 Sep 04
PMID:The effects of dopamine D1 and D2 receptor agonists and antagonists in monkeys withdrawn from long-term neuroleptic treatment. 198 Aug 91

With the aim of evaluating the excitability of the brain stem reflex centers, we studied the side-to-side differences in the EMG activity of the early and late components of the blink reflex, in subjects with unilateral dystonia without demonstrable brain lesions. We observed that both early and late responses of direct blink reflex were significantly higher in the affected side than in the contralateral one.
Boll Soc Ital Biol Sper 1990 Sep
PMID:[Modification of the blink reflex in hemidystonia]. 207 88

Ondansetron, a 5HT3 antagonist, was given to 20 children aged 4 to 18 years who were undergoing treatment with the Australian and New Zealand Childhood Cancer Study Group Acute Lymphocytic Leukaemia (ALL) Study V Protocol. The study was open, dose ranging, and noncomparative, and designed to evaluate safety and efficacy of ondansetron in preventing nausea and vomiting caused by cyclophosphamide intravenous (IV) 1,000 mg/m2 day 1, and cytarabine IV subcutaneously (SC) 75 mg/m2 on days 2 to 5. Ten patients were given ondansetron 5 mg/m2 IV (group A) and subsequently another 10 patients were given ondansetron 3 mg/m2 IV (group B). Oral ondansetron was given for 14 doses, at the same dosage for both groups, commencing simultaneously with the IV infusion and continuing at 8 hourly intervals, ie, until day 5. The oral dose was based on surface area with the following schedule: 0.3 to 0.6 m2, 2 mg; 0.6 to 1 m2, 3 mg; and greater than 1 m2, 4 mg. Vomiting on the first day of chemotherapy was reported in group A by one patient and by one patient in group B. Vomiting during days 2 to 5 was reported by two group-A patients and by three group-B patients. Nausea was recorded on day 1 by one patient in group A, and two in group B, and on days 2 to 5 by three patients in group A, and by seven in group B. All patients were alert during treatment with ondansetron and there was no dystonia. There were no changes in renal function or hematology values that could be ascribed to the study drug. Transient elevations in bilirubin and liver enzymes were observed. We conclude that our results indicate that ondansetron is a safe and extremely effective single-agent antiemetic with minimal side effects, when administered both IV and orally.
J Clin Oncol 1990 Sep
PMID:Prevention of cyclophosphamide/cytarabine-induced emesis with ondansetron in children with leukemia. 214 19

Dystonia musculorum deformans (DMD) is an idiopathic movement disorder which usually involves pediatric age group and progresses to the generalized type. On the contrary in adult-onset DMD, dystonia is usually confined to an upper extremity and its clinical course is benign. The authors report seven patients with adult-onset DMD whose initial symptom was confined to the neck. Diagnosis of idiopathic spasmodic torticollis had been made in all of them. Average ages at the onsets of torticollis and extranuchal dystonia were 49 +/- 13 and 54 +/- 9 years (mean +/- SD) respectively. The duration between these onsets was 2-3 years in five patients and 10-17 years in two younger patients. Two patients finally developed generalized dystonia and one patient became hemidystonic type. These findings suggest that some patients diagnosed as idiopathic spasmodic torticollis are in an early stage of DMD and that this particular type progresses more likely to the generalized form than other types of adult-onset DMD.
No To Shinkei 1990 Sep
PMID:[Torticollis as an initial symptom of adult-onset dystonia musculorum deformans]. 224 82

Two siblings of hereditary progressive dystonia with marked diurnal fluctuation are reported in this communication. The case 1 is a 50-year-old woman who developed dystonia in the right lower extremity at the age of 8 which deteriorated in the afternoon. At the age of 13 she became unable to walk in the afternoon because of dystonia, but after the age of 23 her symptoms began to ameliorate and at the age of 29 her daily activities became no longer disturbed by dystonia even in the evening. However, at the age of 42 dystonia in the lower extremities began to worsen again toward the end of the day and after the age of 47 dystonia appeared in the all extremities. Since the age of 49 she had been able to walk only for three hours after awakening. Her 37-year-old half sister, case 2, also developed a slight dystonia in the left upper extremity at the age of 8. At the age of 33 she felt tight in the neck, waist and extremities after hard works in the evening, and the worst of it was in the left arm which would not move. Both cases were well responsive to L-dopa. Their family history revealed that their father had a history of dystonia the course of which was similar to that of the case 1. Dominant inheritance could be considered in this family. These findings would suggest that hereditary progressive dystonia with marked diurnal fluctuation could show not only a diurnal fluctuation but also age-dependent changes of symptoms. Its basic abnormalities might exist in the dopamine storage pool.
Rinsho Shinkeigaku 1990 Sep
PMID:[Hereditary progressive dystonia with marked diurnal fluctuation--a report of two siblings, one of them showing age-dependent changes of symptoms]. 226 6

A mentally-retarded 21-year-old female with narrowing of the visual field was admitted to our hospital because of dystonia in the body and extremities which appeared 6 months before and was gradually exacerbating. On admission, torsion dystonia, pyramidal tract sign, and retinitis pigmentosa with optic atrophy, urinary incontinence, hyperhidrosis and insomnia were noted. On the Wechsler Adult Intelligence Scale, she achieved less than 60 for verbal-IQ. Laboratory tests including serum copper and ceruloplasmin, were all normal. A computed tomography of the brain showed small hyperdense spot in the globus pallidus on the both sides. There was neither cortical atropy nor ventricular dilatation. A Magnetic Resonance Imaging was obtained using both moderate-field (0.5 Tesla) and high-field (1.5 Tesla) superconducting MR systems. T2-weighted spin echo images demonstrated markedly decreased signal intensity area restricted in the globus pallidus and substantia nigra on both system. Moreover, in the center of the globus pallidus, a small high signal spot was seen ("eye-of the-tiger" sign coined by Sethi et al). There was no abnormal signal in the putamen, caudate nucleus, red nucleus, and dentate nucleus. On the other hand, T1-weighted inversion recovery images were not remarkable. These striking low attenuation on T2-weighted findings suggests an increased iron deposition limited to the globus pallidus and substantia nigra which is characteristic of Hallervorden-Spatz disease/syndrome (H-S). Moreover, "eye-of-the-tiger" sign on T2-weighted MR images in the globus pallidus is previously described in H-S.(ABSTRACT TRUNCATED AT 250 WORDS)
Rinsho Shinkeigaku 1990 Sep
PMID:[The role of magnetic resonance imaging in the diagnosis of Hallervorden-Spatz disease]. 226 8

A case of Leigh's disease (subacute necrotizing encephalomyelopathy) is reported with such noteworthy features as early onset, dystonia, paraparesis the presence of low attenuation areas in both basal ganglias on computerized tomography of the brain and the presence of a high signal intensity in both basal ganglias in T2 weighted image by MR. The electron microscopic findings of muscle biopsy are suggestive of pleoconial mitochondrial myopathy.
Yonsei Med J 1990 Sep
PMID:A case of Leigh's disease with initial manifestation of dystonia. 228 87

A total of 230 patients with neurocirculatory dystonia (NCD) were investigated. Different mental disorders associated with the atherogenic nature of dyslipoproteinemia were revealed in the majority of patients using the clinical scale and MMPI test. Psychotropic agents used for a period of 2-4 mos improved the mental status of these patients, increased exercise tolerance, and decreased blood levels of free fatty acids (FFA). A course of exercise training (graded walking) for 4-6 mos. helped to enhance exercise tolerance, to lower the blood levels of cholesterol, triglycerides, FFA, the total fraction of low- and very low-density lipoproteins, to reduce manifestations of hypochondriasis, depression, and neurasthenia . The results obtained can be used for developing programs of NCD patients' rehabilitation.
Klin Med (Mosk) 1990 Sep
PMID:[Possibilities of correction of mental disorders and dyslipoproteinemia in patients with neurocirculatory asthenia]. 229 Mar 25


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>